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Macular Dystrophy/Stargardt Disease v0.9 PRDM13 Bryony Thompson edited their review of gene: PRDM13: Changed rating: GREEN
Macular Dystrophy/Stargardt Disease v0.9 PRDM13 Bryony Thompson Deleted their comment
Cerebellar and Pontocerebellar Hypoplasia v0.139 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Marked gene: FKRP as ready
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Classified gene: FKRP as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.137 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Classified gene: POMT2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.136 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Marked gene: ROBO3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Classified gene: ROBO3 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.135 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Marked gene: FKTN as ready
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Added comment: Comment when marking as ready: Agree, structural brain abnormalities are a feature of more severe FKTN-associated disease, though PCH/cerebellar hypoplasia not prominent (more unusual abnormalities like cerebellar polymicrogyria described).
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.134 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from Cardiomyopathy, dilated, 1X 611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Walker-Warburg syndrome
Cerebellar and Pontocerebellar Hypoplasia v0.133 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.133 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Classified gene: GMPPB as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.132 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Classified gene: POMT1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.131 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Marked gene: ISPD as ready
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Classified gene: ISPD as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.130 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.129 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.129 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.129 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome, MIM# 617822
Cerebellar and Pontocerebellar Hypoplasia v0.128 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.127 KIAA1109 Zornitza Stark Mode of inheritance for gene: KIAA1109 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Classified gene: POMGNT2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.126 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Classified gene: POMGNT1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.125 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.124 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.124 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.124 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to PMID: 17878207; 19067344; PMID: 24709677
Cerebellar and Pontocerebellar Hypoplasia v0.123 LARGE1 Zornitza Stark Classified gene: LARGE1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.123 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.122 LARGE1 Zornitza Stark Tag SV/CNV tag was added to gene: LARGE1.
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.122 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.6 TCOF1 Zornitza Stark Marked gene: TCOF1 as ready
Pierre Robin Sequence v0.6 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.6 TCOF1 Zornitza Stark Phenotypes for gene: TCOF1 were changed from to Treacher Collins syndrome 1, MIM# 154500
Pierre Robin Sequence v0.5 TCOF1 Zornitza Stark Publications for gene: TCOF1 were set to
Pierre Robin Sequence v0.4 TCOF1 Zornitza Stark Mode of inheritance for gene: TCOF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pierre Robin Sequence v0.3 TCOF1 Zornitza Stark reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12444270, 15150774, 21951868; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2658 TCOF1 Zornitza Stark Marked gene: TCOF1 as ready
Mendeliome v0.2658 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Mendeliome v0.2658 TCOF1 Zornitza Stark Phenotypes for gene: TCOF1 were changed from to Treacher Collins syndrome 1, MIM# 154500
Mendeliome v0.2657 TCOF1 Zornitza Stark Publications for gene: TCOF1 were set to
Mendeliome v0.2656 TCOF1 Zornitza Stark Mode of inheritance for gene: TCOF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2655 TCOF1 Zornitza Stark reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12444270, 15150774, 21951868; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v0.6 TCOF1 Zornitza Stark Marked gene: TCOF1 as ready
Mandibulofacial Acrofacial dysostosis v0.6 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.6 TCOF1 Zornitza Stark Phenotypes for gene: TCOF1 were changed from to Treacher Collins syndrome 1, MIM# 154500
Mandibulofacial Acrofacial dysostosis v0.5 TCOF1 Zornitza Stark Publications for gene: TCOF1 were set to
Mandibulofacial Acrofacial dysostosis v0.4 TCOF1 Zornitza Stark Mode of inheritance for gene: TCOF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2609 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Intellectual disability syndromic and non-syndromic v0.2609 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Intellectual disability syndromic and non-syndromic v0.2609 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2609 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160
Intellectual disability syndromic and non-syndromic v0.2608 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Intellectual disability syndromic and non-syndromic v0.2607 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2606 EMX2 Zornitza Stark Classified gene: EMX2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2606 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2605 EMX2 Zornitza Stark reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.142 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Callosome v0.142 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Callosome v0.142 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160
Callosome v0.141 EMX2 Zornitza Stark Publications for gene: EMX2 were set to 8528262; 9359037; 9153481; 9153481; 18409201
Callosome v0.140 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Callosome v0.139 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Callosome v0.139 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Callosome v0.139 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Callosome v0.139 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Callosome v0.138 EMX2 Zornitza Stark reviewed gene: EMX2: Rating: RED; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: None
Genetic Epilepsy v0.689 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Genetic Epilepsy v0.689 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.689 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160
Genetic Epilepsy v0.688 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Genetic Epilepsy v0.688 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Genetic Epilepsy v0.687 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.686 EMX2 Zornitza Stark Classified gene: EMX2 as Amber List (moderate evidence)
Genetic Epilepsy v0.686 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2655 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Genetic Epilepsy v0.685 EMX2 Zornitza Stark reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.121 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.121 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.121 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Cerebellar and Pontocerebellar Hypoplasia v0.120 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.119 GPAA1 Zornitza Stark Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.118 PPP1CB Zornitza Stark Marked gene: PPP1CB as ready
Cerebellar and Pontocerebellar Hypoplasia v0.118 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.118 PPP1CB Zornitza Stark Phenotypes for gene: PPP1CB were changed from to Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506)
Cerebellar and Pontocerebellar Hypoplasia v0.117 PPP1CB Zornitza Stark Publications for gene: PPP1CB were set to
Cerebellar and Pontocerebellar Hypoplasia v0.116 PPP1CB Zornitza Stark Mode of inheritance for gene: PPP1CB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.115 PPP1CB Zornitza Stark Classified gene: PPP1CB as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.115 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.114 PPP1CB Zornitza Stark reviewed gene: PPP1CB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Added comment: Comment when marking as ready: Agree, appears a rare manifestation of this syndrome.
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Classified gene: FOXP1 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.114 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Skeletal Ciliopathies v0.11 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mandibulofacial Acrofacial dysostosis v0.3 TCOF1 Melanie Marty changed review comment from: The majority of the variants reported are PTCs that lead to truncation or NMD (PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).; to: The majority of the variants reported are PTCs that lead to truncation or NMD, only a few missense have been reported (ClinVar; PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).
Mandibulofacial Acrofacial dysostosis v0.3 TCOF1 Melanie Marty changed review comment from: The majority of the variants reported are PTCs that lead to truncation or NMD (PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).; to: The majority of the variants reported are PTCs that lead to truncation or NMD (PMID: 21951868). More than 60% cases arise from de novo variants (PMID: 15150774, 21951868). Penetrance of the genetic variants causing TCS is thought to be very high. However, extreme inter- and intra- familial phenotypic variation has been reported (PMID: 15150774).
Mandibulofacial Acrofacial dysostosis v0.3 TCOF1 Melanie Marty reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12444270, 15150774, 21951868; Phenotypes: Treacher Collins syndrome 1 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.113 MACF1 Crystle Lee gene: MACF1 was added
gene: MACF1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation (MIM#618325)
Mode of pathogenicity for gene: MACF1 was set to Other
Review for gene: MACF1 was set to GREEN
Added comment: Pontine/Vermis hypoplasia reported in multiple patients with de novo missense variants within the GAR domain

PMID: 30471716; Dobyns 2018: Reported 3 different missense in 7 patients. All reported with brainsteam/cerebellum hypoplasia (Pontine hypoplasia/ Vermis hypoplasia). Postulated to exert Gain of function or dominant negative mechanism

Green in PanelApp UK list
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 LARGE1 Elena Savva gene: LARGE1 was added
gene: LARGE1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARGE1 were set to PMID: 17878207; 19067344; PMID: 24709677
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Walker Warburg syndrome
Added comment: Gross deletions and rearrangements are commonly reported for this gene (PMID: 24709677)

PMID: 17878207 - single reported patient with WWS had cerebellar hypoplasia, died in infancy. Patient had a heterozygous PTC.

PMID: 19067344 - 2 chet patients (missense/PTC) had congenital muscular dystrophy. Patients were both reported with hypoplastic pontine abnormality, one also had a dysplastic vermis. A third patient is reported but this is the same as ^.

PMID: 24709677 - 4 patients.
1/4 mild pontine hyoplasia and inferior vermis hypoplasia, 1/4 very small pons, hypoplastic brainstem and cerebellar cysts, 1/4 small pons, 1/4 hypoplastic pons.
3/4 were diagnosed with WWS, 1/4 with Fukuyama Congenital Muscular Dystrophy
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMGNT1 Crystle Lee gene: POMGNT1 was added
gene: POMGNT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT1 were set to 19067344
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (MIM#253280)
Review for gene: POMGNT1 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 (OMIM)

PMID: 19067344; Clement 2008: Reported 7 patients, all showed either cerebellar or pontine hypoplasia and cerebellar cysts
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMGNT2 Crystle Lee gene: POMGNT2 was added
gene: POMGNT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT2 were set to 22958903; 27066570
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 (MIM#614830)
Review for gene: POMGNT2 was set to GREEN
Added comment: POMGNT2 (also known as GTDC2). Associated phenotype also referred to as Walker-Warburg syndrome.

PMID: 22958903; Manzini 2012: 3 different hom variants in 3 consang. families, all reported with cerebellar hypoplasia. (2 nonsense and 1 missense). "knockdown in zebrafish showed all WWS features (hydrocephalus, ocular defects, and muscular dystrophy)"

PMID: 27066570; Endo 2015: reported 3 hom/chet missense with no cerebellar hypoplasia. Missense variants showed to reduced activity, which likely explains the milder phenotype.

Green in PanelApp UK list.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 KIAA1109 Elena Savva reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.113 ISPD Elena Savva gene: ISPD was added
gene: ISPD was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISPD were set to PMID: 22522421; 22522420
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Walker–Warburg syndrome
Review for gene: ISPD was set to GREEN
Added comment: PMID: 22522421 - 11 patients with severe WWS, only two survived beyond 2 years of age. "Routine cerebral MRI
showed typical features of cobblestone lissencephaly together with hydrocephalus, cerebellar hypoplasia and a kinked brainstem".
10/11 patients either had chet mutations (missense, PTC) or homozygous PTCs/exon deletions, and diagnosed with either WSS or MEB. A single patient was homozygous for a missense. 10/11 reported specifically with "cerebellar abnormalities", no specific numbers for cerebellar hypoplasia.

PMID: 22522420 - single patient with WWS, chet for exon deletions/PTC. MRI taken at 5 months of age shows hypoplastic brainstem and cerebellar vermis.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.113 GPAA1 Elena Savva reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29100095, 31353022; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMT1 Crystle Lee gene: POMT1 was added
gene: POMT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 24491487; 31311558
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MIM#236670); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 (MIM#613155)
Review for gene: POMT1 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (previously Walker-Warburg syndrome) and type B1 (OMIM)

PMID: 24491487; Wallace 2015: Reports 3 patients and reviews variability of clinical outcomes associated with a single frameshift variant (ie h chet missense/fs associated with less severe phenotype).

PMID: 31311558; Geis 2019: Multiple WWS families reported. Cerebellar hypoplasia is a consistent feature.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 GMPPB Elena Savva reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30257713, 30684953, 23768512; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.113 GMPPB Elena Savva Deleted their review
Cerebellar and Pontocerebellar Hypoplasia v0.113 GMPPB Elena Savva gene: GMPPB was added
gene: GMPPB was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPB were set to PMID: 30257713; 30684953; 23768512
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Added comment: Decipher: Patient: 363842 is described with abnormality of the cerebellar vermis

PMID: 30257713 - 3/6 patients with MRIs has mild cerebellar hypoplasia. Patients were all chet with mostly two missense in trans, or a missense/PTC. All patients with hypoplasia were diagnosed with congenital muscular dystrophy with cerebellar involvement (CRB). Age at examination unknown, patients range from 20 months - 74 years old).

PMID: 30684953 - patient with Limb-girdle muscular dystrophy, MRI was normal. Patient had chet missense.

PMID: 23768512 - 3/7 patients had cerebellar/pontine hypoplasia. Patients were diagnosed with MEB, muscle-eye-brain disease or CRB.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.113 POMT2 Crystle Lee gene: POMT2 was added
gene: POMT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 15894594; 17634419
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 (MIM#613150); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 (MIM#613156)
Review for gene: POMT2 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of Muscular dystrophy-dystroglycanopathy type A2 (previously Walker-Warburg syndrome) and B2 (OMIM). Severity of phenotype likely correlates with amount of residual activity.

PMID: 15894594; van Reeuwijk 2005: Reported LoF type variants in 3 families. Cerebellar hypoplasia reported in 2 patients.

PMID: 17634419; Yanagisawa 2007: Cerebellar vermis hypoplasis was a feature all 4 patients reported. (Hom missense and chet missense/nonsense)
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.113 FOXP1 Elena Savva reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 29090079, 28735298; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.113 PPP1CB Crystle Lee reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27264673, 28211982, 30236064; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.113 FKTN Elena Savva gene: FKTN was added
gene: FKTN was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to PMID: 17878207; 25821721; 19342235; 18177472; 12601708
Phenotypes for gene: FKTN were set to Cardiomyopathy, dilated, 1X 611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Walker-Warburg syndrome
Review for gene: FKTN was set to AMBER
Added comment: PMID: 17878207 - 1/6 unrelated families had cerebellar hypoplasia, patient was homozygous for a PTC, had Walker-Warburg syndrome (WWS)

PMID: 25821721 - 1 patient with muscular dystrophy, had a normal MRI and two chet missense.

PMID: 19342235 - 2 siblings chet for two missense, do not report any cognitive issues. No MRI, were diagnosed with Limb-Girdle Muscular Dystrophy Without Mental Retardation

PMID: 18177472 - Two patients with WWS, one died soon after birth and was chet for a missense and 3' UTR deletion. This patient only had an MRI showing severe brain malformation but no mention of cerebellar hypoplasia. The second patient was homozygous for a PTC.

PMID: 12601708 - 1 patient with WWS and a homozygous PTC. Patient was an infant and tomography showed cortical atrophy

Summary: Cerebellar hypoplasia may be a feature exclusive to severe WWS, which requires two null/near-null alleles. Need more reports to make it GREEN
Sources: Expert Review
Mendeliome v0.2655 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Mendeliome v0.2655 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.113 ROBO3 Crystle Lee gene: ROBO3 was added
gene: ROBO3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROBO3 were set to 15105459
Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313)
Review for gene: ROBO3 was set to GREEN
Added comment: Pontine hypoplasia is a feature of the associated phenotype.

PMID: 15105459; Jen 2004: Reported hom variants in 10 patients.
Sources: Expert Review
Mendeliome v0.2655 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160
Mendeliome v0.2654 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Mendeliome v0.2653 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2652 EMX2 Zornitza Stark Classified gene: EMX2 as Amber List (moderate evidence)
Mendeliome v0.2652 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2651 EMX2 Zornitza Stark reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.113 FKRP Elena Savva gene: FKRP was added
gene: FKRP was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to PMID: 16476814; 21293871; 20236121
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Walker–Warburg syndrome
Review for gene: FKRP was set to GREEN
Added comment: PMID: 16476814 - Pons/cerebellar hypoplasia reported in 3/13 patients with MRI results (aged 22 months - 11 years), additional 4/13 had cerebellar cysts. One patient had MED, the other WWS (Walker-Warburg syndrome)
Describes other papers where patients had vermis hypoplasia.

PMID: 21293871 - 2/9 patients with MRI scan had cerebellar atrophy (aged 65, 69 years old), patients had limb-girdle muscular dystrophy 2I

PMID: 20236121 - 2 homozygous siblings with Walker–Warburg syndrome. Postnatal MRI of one sibling shows cerbellar vermis and cortex hypoplasia

Summary: Uncommon feature but reported in >3 patients, more commonly with Walker-Warburg syndrome patients
Sources: Expert Review
Polymicrogyria and Schizencephaly v0.57 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Polymicrogyria and Schizencephaly v0.57 FIG4 Zornitza Stark Gene: fig4 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.57 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from to Polymicrogyria with epilepsy MIM# 612691
Polymicrogyria and Schizencephaly v0.56 FIG4 Zornitza Stark Publications for gene: FIG4 were set to
Polymicrogyria and Schizencephaly v0.55 FIG4 Zornitza Stark Mode of inheritance for gene: FIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.54 FIG4 Zornitza Stark Classified gene: FIG4 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.54 FIG4 Zornitza Stark Gene: fig4 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.53 FIG4 Lauren Akesson reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18758830, 24598713; Phenotypes: ? Polymicrogyria with epilepsy MIM# 612691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.53 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Polymicrogyria and Schizencephaly v0.53 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.53 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly MIM# 269160
Polymicrogyria and Schizencephaly v0.52 EMX2 Zornitza Stark Publications for gene: EMX2 were set to 8528262; 9359037; 9153481
Polymicrogyria and Schizencephaly v0.51 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Polymicrogyria and Schizencephaly v0.50 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.49 EMX2 Zornitza Stark Classified gene: EMX2 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.49 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.48 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Cobblestone Malformations v0.5 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Cobblestone Malformations v0.5 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.5 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MIM # 618343
Cobblestone Malformations v0.4 COL3A1 Zornitza Stark Publications for gene: COL3A1 were set to
Cobblestone Malformations v0.3 COL3A1 Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.48 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Polymicrogyria and Schizencephaly v0.48 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.48 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1 MIM# 267750
Polymicrogyria and Schizencephaly v0.47 COL18A1 Zornitza Stark Publications for gene: COL18A1 were set to
Polymicrogyria and Schizencephaly v0.46 COL18A1 Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2605 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Intellectual disability syndromic and non-syndromic v0.2604 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 32004445
Intellectual disability syndromic and non-syndromic v0.2603 ATAD3A Zornitza Stark Mode of pathogenicity for gene: ATAD3A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2602 ATAD3A Zornitza Stark edited their review of gene: ATAD3A: Added comment: Note mode of pathogenicity includes:
i) bi-allelic missense and nonsense variants and bi-allelic deletions that create an ATAD3B/ATAD3A fusion gene under the lowly expressed ATAD3B promoter
ii) monoallelic dominant-negative missense variants (either de novo or inherited) and de novo monoallelic duplications creating a dominant negative ATAD3A/ATAD3C fusion gene; Changed publications: 27640307, 32004445, 28549128; Changed phenotypes: Harel-Yoon syndrome, MIM# 617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Classified gene: ATAD3A as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.113 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.112 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
SV/CNV tags were added to gene: ATAD3A.
Mode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 28549128
Phenotypes for gene: ATAD3A were set to Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810
Review for gene: ATAD3A was set to GREEN
Added comment: Four unrelated families reported with deletions that generate chimeric ATAD3B/ATAD3A fusion genes and fatal congenital pontocerebellar hypoplasia. One family with genomic rearrangements affecting the ATAD3C/ATAD3B genes on one allele and ATAD3B/ATAD3A genes on the other displayed later-onset encephalopathy with cerebellar atrophy, ataxia and dystonia.
Sources: Expert Review
Mendeliome v0.2651 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Mendeliome v0.2650 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 32004445
Mendeliome v0.2649 ATAD3A Zornitza Stark edited their review of gene: ATAD3A: Added comment: Mode of pathogenicity includes:
i) bi-allelic missense and nonsense variants and bi-allelic deletions that create an ATAD3B/ATAD3A fusion gene under the lowly expressed ATAD3B promoter
ii) monoallelic dominant-negative missense variants (either de novo or inherited) and de novo monoallelic duplications creating a dominant negative ATAD3A/ATAD3C fusion gene; Changed publications: 27640307, 32004445, 28549128; Changed phenotypes: Harel-Yoon syndrome, MIM# 617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Mitochondrial disease v0.442 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810
Mitochondrial disease v0.441 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 32004445
Mitochondrial disease v0.440 ATAD3A Zornitza Stark Mode of pathogenicity for gene: ATAD3A was changed from to Other
Mitochondrial disease v0.439 GDAP1 Kristin Rigbye reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.439 ATAD3A David Thorburn reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28549128; Phenotypes: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2649 CTSA Zornitza Stark Marked gene: CTSA as ready
Mendeliome v0.2649 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Mendeliome v0.2649 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from to Galactosialidosis, MIM# 256540; Cathepsin A-related arteriopathy with strokes and leukoencephalopathy
Mendeliome v0.2648 CTSA Zornitza Stark Publications for gene: CTSA were set to
Mendeliome v0.2647 CTSA Zornitza Stark Mode of inheritance for gene: CTSA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2646 CTSA Zornitza Stark Deleted their comment
Mendeliome v0.2646 CTSA Zornitza Stark commented on gene: CTSA: Mono-allelic variants cause arteriopathy with strokes and leukodystrophy.
Polymicrogyria and Schizencephaly v0.45 EMX2 Lauren Akesson reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8528262, 9359037, 9153481; Phenotypes: Schizencephaly MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cobblestone Malformations v0.2 COL3A1 Lauren Akesson reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28742248, 19455184, 25205403; Phenotypes: Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.45 COL18A1 Lauren Akesson reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25456301, 19160445, 17546652; Phenotypes: Knobloch syndrome, type 1 MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.111 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.111 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.111 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from to Pontocerebellar hypoplasia, type 9, MIM# 615809
Cerebellar and Pontocerebellar Hypoplasia v0.110 AMPD2 Zornitza Stark Publications for gene: AMPD2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.109 AMPD2 Zornitza Stark Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.108 AMPD2 Zornitza Stark commented on gene: AMPD2: At least six families reported.
Cerebellar and Pontocerebellar Hypoplasia v0.108 AMPD2 Zornitza Stark reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23911318, 27066553; Phenotypes: Pontocerebellar hypoplasia, type 9, MIM# 615809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2646 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from Intellectual disability; dysmophic features; rhombencephalosynapsis to CEBALID syndrome, MIM#618774; Intellectual disability; dysmophic features; rhombencephalosynapsis
Mendeliome v0.2645 MN1 Zornitza Stark edited their review of gene: MN1: Changed phenotypes: CEBALID syndrome, MIM#618774, Intellectual disability, dysmophic features, rhombencephalosynapsis
Intellectual disability syndromic and non-syndromic v0.2602 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from Intellectual disability; dysmophic features; rhombencephalosynapsis to CEBALID syndrome, MIM#618774; Intellectual disability; dysmophic features; rhombencephalosynapsis
Intellectual disability syndromic and non-syndromic v0.2601 MN1 Zornitza Stark Mode of inheritance for gene: MN1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2600 MN1 Zornitza Stark edited their review of gene: MN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Classified gene: PTF1A as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.108 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.107 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTF1A were set to 21749365; 10507728; 15543146; 19650412
Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM# 609069
Review for gene: PTF1A was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.106 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.105 MAST1 Zornitza Stark gene: MAST1 was added
gene: MAST1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM# 618273
Review for gene: MAST1 was set to GREEN
Added comment: Six unrelated individuals with de novo variants in this gene and a mouse model.
Sources: Expert list
Mendeliome v0.2645 PI4KA Zornitza Stark Marked gene: PI4KA as ready
Mendeliome v0.2645 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2645 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Mendeliome v0.2644 PI4KA Zornitza Stark Publications for gene: PI4KA were set to
Mendeliome v0.2643 PI4KA Zornitza Stark Mode of inheritance for gene: PI4KA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2642 PI4KA Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence)
Mendeliome v0.2642 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2641 PI4KA Zornitza Stark reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: None; Publications: 25855803; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.45 PI4KA Zornitza Stark Marked gene: PI4KA as ready
Polymicrogyria and Schizencephaly v0.45 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.45 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Polymicrogyria and Schizencephaly v0.44 PI4KA Zornitza Stark Publications for gene: PI4KA were set to
Polymicrogyria and Schizencephaly v0.43 PI4KA Zornitza Stark Mode of inheritance for gene: PI4KA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.42 PI4KA Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.42 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.41 PI4KA Zornitza Stark reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: None; Publications: 25855803; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Marked gene: PI4KA as ready
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.104 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.103 PI4KA Zornitza Stark gene: PI4KA was added
gene: PI4KA was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 25855803
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Review for gene: PI4KA was set to AMBER
Added comment: Single family reported, aware of at least one other yet to be published family identified internally.
Sources: Expert list
Mendeliome v0.2641 CDK5 Zornitza Stark changed review comment from: Single consanguineous family with multiple affected individuals reported.; to: Single consanguineous family with multiple affected individuals reported.
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark changed review comment from: Single consanguineous family with multiple affected individuals reported, lishencephaly prominent.
Sources: Expert list; to: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.35 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Lissencephaly and Band Heterotopia v0.35 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.35 CDK5 Zornitza Stark gene: CDK5 was added
gene: CDK5 was added to Lissencephaly and Band Heterotopia. Sources: Expert list
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Review for gene: CDK5 was set to RED
Added comment: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent.
Sources: Expert list
Callosome v0.138 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Callosome v0.138 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Callosome v0.138 CDK5 Zornitza Stark Phenotypes for gene: CDK5 were changed from to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Callosome v0.137 CDK5 Zornitza Stark Publications for gene: CDK5 were set to
Callosome v0.136 CDK5 Zornitza Stark Mode of inheritance for gene: CDK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.135 CDK5 Zornitza Stark Classified gene: CDK5 as Red List (low evidence)
Callosome v0.135 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Callosome v0.134 CDK5 Zornitza Stark reviewed gene: CDK5: Rating: RED; Mode of pathogenicity: None; Publications: 25560765; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2641 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Mendeliome v0.2641 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Mendeliome v0.2641 CDK5 Zornitza Stark Phenotypes for gene: CDK5 were changed from to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Mendeliome v0.2640 CDK5 Zornitza Stark Publications for gene: CDK5 were set to
Mendeliome v0.2639 CDK5 Zornitza Stark Mode of inheritance for gene: CDK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2638 CDK5 Zornitza Stark Classified gene: CDK5 as Red List (low evidence)
Mendeliome v0.2638 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Mendeliome v0.2637 CDK5 Zornitza Stark reviewed gene: CDK5: Rating: RED; Mode of pathogenicity: None; Publications: 25560765; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.102 CDK5 Zornitza Stark gene: CDK5 was added
gene: CDK5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Review for gene: CDK5 was set to RED
Added comment: Single consanguineous family with multiple affected individuals reported, lishencephaly prominent.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Marked gene: OXR1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Classified gene: OXR1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.101 OXR1 Zornitza Stark Gene: oxr1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.100 OXR1 Zornitza Stark gene: OXR1 was added
gene: OXR1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000
Review for gene: OXR1 was set to GREEN
Added comment: 5 individuals from 3 unrelated families reported with bi-allelic variants in this gene. Presentation was in early childhood with hypotonia, global developmental delay, delayed walking at about age 3 years, and severely impaired intellectual development with profound speech delay or even absent language. All also developed epilepsy between 7 and 10 years of age, but the seizures were controlled by medication in most. Subtle nonspecific dysmorphic features included poor overall growth, large forehead, tall face, mild hypertelorism, joint hyperlaxity, and long fingers and toes. Brain imaging in all 5 individuals showed cerebellar atrophy and dysplasia. Additional cerebellar features, such as tremor, ataxia, and nystagmus, were not noted in these individuals.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.99 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.99 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.99 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM# 300486
Cerebellar and Pontocerebellar Hypoplasia v0.98 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.97 OPHN1 Zornitza Stark Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v0.96 OPHN1 Zornitza Stark reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM# 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Microcephaly v0.121 VPS51 Zornitza Stark changed review comment from: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list; to: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable. Microcephaly -3/-4SD.
Sources: Expert list
Microcephaly v0.121 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2600 VPS51 Zornitza Stark Marked gene: VPS51 as ready
Intellectual disability syndromic and non-syndromic v0.2600 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2600 VPS51 Zornitza Stark Classified gene: VPS51 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2600 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2599 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list
Mendeliome v0.2637 VPS51 Zornitza Stark Marked gene: VPS51 as ready
Mendeliome v0.2637 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2637 VPS51 Zornitza Stark Classified gene: VPS51 as Amber List (moderate evidence)
Mendeliome v0.2637 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2636 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Marked gene: VPS51 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Classified gene: VPS51 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.96 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.95 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.94 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Cerebellar and Pontocerebellar Hypoplasia v0.94 VLDLR Zornitza Stark Gene: vldlr has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.94 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Cerebellar and Pontocerebellar Hypoplasia v0.93 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Cerebellar and Pontocerebellar Hypoplasia v0.92 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.91 VLDLR Zornitza Stark reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.91 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.91 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.91 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Cerebellar and Pontocerebellar Hypoplasia v0.90 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.89 UFM1 Zornitza Stark Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Marked gene: TERT as ready
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Classified gene: TERT as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.88 TERT Zornitza Stark Gene: tert has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.87 EXOSC9 Zornitza Stark Marked gene: EXOSC9 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.87 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.87 EXOSC9 Zornitza Stark Phenotypes for gene: EXOSC9 were changed from to Pontocerebellar hypoplasia, type 1D 618065
Cerebellar and Pontocerebellar Hypoplasia v0.86 EXOSC9 Zornitza Stark Publications for gene: EXOSC9 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.85 EXOSC9 Zornitza Stark Mode of inheritance for gene: EXOSC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.84 EXOSC9 Zornitza Stark Classified gene: EXOSC9 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.84 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)
Cerebellar and Pontocerebellar Hypoplasia v0.82 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.81 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.80 SETD2 Zornitza Stark Marked gene: SETD2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.80 SETD2 Zornitza Stark Gene: setd2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.80 SETD2 Zornitza Stark Phenotypes for gene: SETD2 were changed from to Luscan-Lumish syndrome (MIM#616831)
Cerebellar and Pontocerebellar Hypoplasia v0.79 SETD2 Zornitza Stark Publications for gene: SETD2 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.78 SETD2 Zornitza Stark Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.77 SETD2 Zornitza Stark Classified gene: SETD2 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.77 SETD2 Zornitza Stark Gene: setd2 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.76 RAB11B Zornitza Stark Marked gene: RAB11B as ready
Cerebellar and Pontocerebellar Hypoplasia v0.76 RAB11B Zornitza Stark Gene: rab11b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.76 RAB11B Zornitza Stark Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807)
Cerebellar and Pontocerebellar Hypoplasia v0.75 RAB11B Zornitza Stark Publications for gene: RAB11B were set to
Cerebellar and Pontocerebellar Hypoplasia v0.74 RAB11B Zornitza Stark Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.73 RAB11B Zornitza Stark Classified gene: RAB11B as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.73 RAB11B Zornitza Stark Gene: rab11b has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Marked gene: PUS3 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Gene: pus3 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.72 PUS3 Zornitza Stark Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55 (MIM#617051)
Cerebellar and Pontocerebellar Hypoplasia v0.71 PUS3 Zornitza Stark Publications for gene: PUS3 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.70 PUS3 Zornitza Stark Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.69 PUS3 Zornitza Stark Classified gene: PUS3 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.69 PUS3 Zornitza Stark Gene: pus3 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Marked gene: LAT as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Classified gene: LAT as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.6 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.5 LAT Zornitza Stark gene: LAT was added
gene: LAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAT were set to 27242165; 27522155
Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514
Review for gene: LAT was set to GREEN
Added comment: Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.4 Zornitza Stark removed gene:SPNS1 from the panel
Cerebellar and Pontocerebellar Hypoplasia v0.68 PUS3 Crystle Lee reviewed gene: PUS3: Rating: RED; Mode of pathogenicity: None; Publications: 27055666, 30308082, 30697592, 31444731; Phenotypes: Mental retardation, autosomal recessive 55 (MIM#617051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.68 RAB11B Crystle Lee reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MIM#617807); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2635 CTSA Zornitza Stark changed review comment from: Bi-allelic variants cause galactosialidosis, and mono-allelic variants cause CARASAL.; to: Bi-allelic variants associated with galactosialidosis, and mono-allelic variants associated with CARASAL.
Mendeliome v0.2635 CTSA Zornitza Stark reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31177426; Phenotypes: Galactosialidosis, MIM# 256540, Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Leukodystrophy v0.62 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Leukodystrophy v0.62 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Leukodystrophy v0.62 CTC1 Zornitza Stark Classified gene: CTC1 as Green List (high evidence)
Leukodystrophy v0.62 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Leukodystrophy v0.61 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTC1 were set to 22267198; 22387016
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Review for gene: CTC1 was set to GREEN
Added comment: Onset typically in infancy/childhood with intracranial calcifications, leukoencephalopathy, and early-onset retinal changes, associated with extra-neurologic manifestations including early-onset bone fractures, gastrointestinal ectasia, and variable hair, nail, and skin changes, and/or anemia.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.68 SETD2 Crystle Lee reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31643139, 31474318, 26084711; Phenotypes: Luscan-Lumish syndrome (MIM#616831); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebellar and Pontocerebellar Hypoplasia v0.68 SLC25A46 Crystle Lee reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543974, 28637197, 28376086, 26168012; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC9 Elena Savva reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29727687, 30690203; Phenotypes: Pontocerebellar hypoplasia, type 1D 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2598 MN1 Chern Lim reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CEBALID syndrome, MIM#618774; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy v0.60 AUH Zornitza Stark Marked gene: AUH as ready
Leukodystrophy v0.60 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Leukodystrophy v0.60 AUH Zornitza Stark Classified gene: AUH as Green List (high evidence)
Leukodystrophy v0.60 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Leukodystrophy v0.59 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, MIM# 250950
Review for gene: AUH was set to GREEN
Added comment: Onset is typically in childhood, though presentation is variable so worth keeping on both paediatric and adult panels.
Sources: Expert list
Leukodystrophy v0.58 APOPT1 Zornitza Stark Marked gene: APOPT1 as ready
Leukodystrophy v0.58 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Green List (High Evidence).
Leukodystrophy v0.58 APOPT1 Zornitza Stark Classified gene: APOPT1 as Green List (high evidence)
Leukodystrophy v0.58 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Green List (High Evidence).
Leukodystrophy v0.57 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APOPT1 were set to 25175347
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, MIM# 220110
Review for gene: APOPT1 was set to GREEN
Added comment: Cavitating leukodystrophy reported as part of this mitochondrial disorder, onset described as late infancy/early childhood.
Sources: Expert list
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Marked gene: EXOSC5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Added comment: Comment when marking as ready: Pre-print
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.68 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from to Developmental delays, short stature, cerebellar hypoplasia and motor weakness
Cerebellar and Pontocerebellar Hypoplasia v0.67 EXOSC5 Zornitza Stark Publications for gene: EXOSC5 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.66 EXOSC5 Zornitza Stark Mode of inheritance for gene: EXOSC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.65 EXOSC5 Zornitza Stark Classified gene: EXOSC5 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.65 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Classified gene: SMPD4 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.64 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Marked gene: DDX3X as ready
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.63 DDX3X Zornitza Stark Phenotypes for gene: DDX3X were changed from to Mental retardation, X-linked 102, MIM# 300958
Cerebellar and Pontocerebellar Hypoplasia v0.62 DDX3X Zornitza Stark Publications for gene: DDX3X were set to
Cerebellar and Pontocerebellar Hypoplasia v0.61 EXOSC5 Elena Savva changed review comment from: No phenotype association in OMIM, emerging gene with a single paper

3 patients reported: one patient with cerebellar hypoplasia, another with reduced cerebellar vermis; to: No phenotype association in OMIM, emerging gene with a single paper

3 patients reported: one patient with cerebellar hypoplasia, another with reduced cerebellar vermis

Summary: 2/3 patients have cerebellar/vermis hypoplasia
Cerebellar and Pontocerebellar Hypoplasia v0.61 EXOSC5 Elena Savva reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: None; Publications: doi: https://doi.org/10.1101/2020.04.01.839274; Phenotypes: Developmental delays, short stature, cerebellar hypoplasia and motor weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.61 DDX3X Zornitza Stark Mode of inheritance for gene: DDX3X was changed from Unknown to Other
Cerebellar and Pontocerebellar Hypoplasia v0.60 DDX3X Zornitza Stark Classified gene: DDX3X as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.60 DDX3X Zornitza Stark Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.59 DDX3X Zornitza Stark reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: None; Publications: 30936465; Phenotypes: Mental retardation, X-linked 102, MIM# 300958; Mode of inheritance: Other
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Classified gene: SNX14 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.59 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Marked gene: TBCK as ready
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Added comment: Comment when marking as ready: Agree, uncertain about whether reported findings truly reflect cerebellar/pontocerebellar hypoplasia.
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Gene: tbck has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Marked gene: TBCK as ready
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Gene: tbck has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.58 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900)
Cerebellar and Pontocerebellar Hypoplasia v0.57 TBCK Zornitza Stark Publications for gene: TBCK were set to
Cerebellar and Pontocerebellar Hypoplasia v0.56 TBCK Zornitza Stark Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.55 TBCK Zornitza Stark Classified gene: TBCK as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.55 TBCK Zornitza Stark Gene: tbck has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Classified gene: DKC1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.54 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.53 DKC1 Elena Savva gene: DKC1 was added
gene: DKC1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DKC1 were set to PMID: 31269755; 26951492; 29081935
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Review for gene: DKC1 was set to GREEN
Added comment: OMIM - Cerebellar ataxia (seen in HHS variant), Cerebellar hypoplasia (seen in HHS variant)
Hoyeraal-Hreidarsson Syndrome is the severe form of Dyskeratosis congenita

PMID: 31269755 - 1 child with cerebellar hypoplasia, a hemizygous missense and Hoyeraal–Hreidarsson Syndrome*

PMID: 26951492 - 1 child with pontocerebellar hypoplasia, a hemizygous missense and Hoyeraal–Hreidarsson Syndrome*

PMID: 29081935 - 1 family (2 first cousins) with the same variant. One has DC, the other HHS and cerebellar hypoplasia*

PMID: 24914498 - 1 baby (3 months old) with a missense in exon 3 and Hoyeraal-Hreidarsson syndrome and cerebellar atrophy.

*All missense found close together in exon 11

Summary: is a common feature of severe Hoyeraal-Hreidarsson syndrome
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.53 SMPD4 Crystle Lee gene: SMPD4 was added
gene: SMPD4 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to 31495489
Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622)
Review for gene: SMPD4 was set to GREEN
Added comment: Cerebellar hypoplasia is a feature of the associated OMIM phenotype.

Magini 2019: Reported 23 patients from 12 unrelated families. Cerebellar hypoplasia was one of the main features.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.53 DDX3X Elena Savva reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26235985, 30936465; Phenotypes: Mental retardation, X-linked 102 300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v0.53 SNX14 Crystle Lee gene: SNX14 was added
gene: SNX14 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX14 were set to 25439728; 24501761; 25848753
Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)
Review for gene: SNX14 was set to AMBER
Added comment: Not sure if cerebellar hypoplasia or atrophy. Appears to be mostly atrophy but early onset.

Green in PanelApp UK: "Unclear if predominantly cerebellar atrophy/hypoplasia. Childhood presentation reported" 2016

Thomas 2014: 7 affected individuals from 3 unrelated consanguineous families. Appears to be predominantly cerebellar atrophy, 4 of which were progressive.

Sousa 2014: Reported cerebellar hypotrophy in 2 sisters (>15 years old). Noted as cerebellar hypoplasia in OMIM.

Akizu 2015: 12 families with cerebellar atrophy. Childhood-onset recessive cerebellar atrophy with ataxia (supp data indicates all <5 years old)
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.53 TBCK Crystle Lee edited their review of gene: TBCK: Changed publications: 27040692, 30103036, 27040691
Cerebellar and Pontocerebellar Hypoplasia v0.53 TBCK Crystle Lee reviewed gene: TBCK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27040692; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (MIM#616900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.53 TERT Crystle Lee gene: TERT was added
gene: TERT was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERT were set to 17785587
Phenotypes for gene: TERT were set to Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989)
Review for gene: TERT was set to AMBER
Added comment: 1 patient reported with cerebellar hypoplasia.

Marrone (2007): Reported hom missense (not in gnomAD) in 1 patient from consang fam with Hoyeraal-Hreidarsson syndrome, which is a severe variant of DKC
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Marked gene: GALT as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Added comment: Comment when marking as ready: Only screened in Victoria as galactosaemia is not part of newborn screening.
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Gene: galt has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Classified gene: GALT as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.3 GALT Zornitza Stark Gene: galt has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease; New South Wales Health Pathology; PathWest
Genetic Epilepsy v0.685 CDK19 Zornitza Stark Marked gene: CDK19 as ready
Genetic Epilepsy v0.685 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.685 CDK19 Zornitza Stark Classified gene: CDK19 as Green List (high evidence)
Genetic Epilepsy v0.685 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.684 CDK19 Zornitza Stark gene: CDK19 was added
gene: CDK19 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK19 were set to 32330417
Phenotypes for gene: CDK19 were set to Intellectual disability; epileptic encephalopathy
Review for gene: CDK19 was set to GREEN
Added comment: Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2598 CDK19 Zornitza Stark Marked gene: CDK19 as ready
Intellectual disability syndromic and non-syndromic v0.2598 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2598 CDK19 Zornitza Stark Classified gene: CDK19 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2598 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2597 CDK19 Zornitza Stark gene: CDK19 was added
gene: CDK19 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK19 were set to 32330417
Phenotypes for gene: CDK19 were set to Intellectual disability; epileptic encephalopathy
Review for gene: CDK19 was set to GREEN
Added comment: Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data.
Sources: Literature
Mendeliome v0.2635 CDK19 Zornitza Stark Marked gene: CDK19 as ready
Mendeliome v0.2635 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Mendeliome v0.2635 CDK19 Zornitza Stark Classified gene: CDK19 as Green List (high evidence)
Mendeliome v0.2635 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Mendeliome v0.2634 CDK19 Zornitza Stark gene: CDK19 was added
gene: CDK19 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK19 were set to 32330417
Phenotypes for gene: CDK19 were set to Intellectual disability; epileptic encephalopathy
Review for gene: CDK19 was set to GREEN
Added comment: Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2596 PTPN23 Zornitza Stark Marked gene: PTPN23 as ready
Intellectual disability syndromic and non-syndromic v0.2596 PTPN23 Zornitza Stark Gene: ptpn23 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2596 PTPN23 Zornitza Stark Mode of inheritance for gene: PTPN23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2595 PTPN23 Zornitza Stark Publications for gene: PTPN23 were set to
Intellectual disability syndromic and non-syndromic v0.2594 PTPN23 Zornitza Stark Phenotypes for gene: PTPN23 were changed from to Intellectual disability; brain abnormalities; seizures; optic atrophy; microcephaly
Intellectual disability syndromic and non-syndromic v0.2593 PTPN23 Zornitza Stark reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947; Phenotypes: Intellectual disability, brain abnormalities, seizures, optic atrophy, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2633 MNS1 Zornitza Stark Marked gene: MNS1 as ready
Mendeliome v0.2633 MNS1 Zornitza Stark Gene: mns1 has been classified as Green List (High Evidence).
Mendeliome v0.2633 MNS1 Zornitza Stark Classified gene: MNS1 as Green List (high evidence)
Mendeliome v0.2633 MNS1 Zornitza Stark Gene: mns1 has been classified as Green List (High Evidence).
Mendeliome v0.2632 MNS1 Zornitza Stark gene: MNS1 was added
gene: MNS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNS1 were set to 31534215; 30148830
Phenotypes for gene: MNS1 were set to Heterotaxy; male infertility
Review for gene: MNS1 was set to GREEN
Added comment: Eight families reported altogether, three LoF variants. Four Amish families share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder variant. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated.
Sources: Literature
Heterotaxy v0.9 MNS1 Zornitza Stark Marked gene: MNS1 as ready
Heterotaxy v0.9 MNS1 Zornitza Stark Added comment: Comment when marking as ready: A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated.
Heterotaxy v0.9 MNS1 Zornitza Stark Gene: mns1 has been classified as Green List (High Evidence).
Heterotaxy v0.9 MNS1 Zornitza Stark Classified gene: MNS1 as Green List (high evidence)
Heterotaxy v0.9 MNS1 Zornitza Stark Gene: mns1 has been classified as Green List (High Evidence).
Heterotaxy v0.8 MNS1 Zornitza Stark gene: MNS1 was added
gene: MNS1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNS1 were set to 31534215; 30148830
Phenotypes for gene: MNS1 were set to Heterotaxy; male infertility
Review for gene: MNS1 was set to GREEN
Added comment: Eight families reported altogether. However, four are Amish and share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder variant.
Sources: Literature
Ataxia v0.213 SCYL1 Zornitza Stark Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, 616719 to Spinocerebellar ataxia, autosomal recessive 21, 616719; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Ataxia v0.212 SCYL1 Zornitza Stark edited their review of gene: SCYL1: Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719, Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Mendeliome v0.2631 DHX37 Zornitza Stark Marked gene: DHX37 as ready
Mendeliome v0.2631 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Mendeliome v0.2631 DHX37 Zornitza Stark Classified gene: DHX37 as Green List (high evidence)
Mendeliome v0.2631 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Mendeliome v0.2630 DHX37 Zornitza Stark gene: DHX37 was added
gene: DHX37 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DHX37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX37 were set to 31337883; 31745530
Phenotypes for gene: DHX37 were set to 46,XY gonadal dysgenesis; testicular regression syndrome (TRS)
Review for gene: DHX37 was set to GREEN
Added comment: Seventeen individuals with 46,XY gonadal dysgenesis reported in two studies.
Sources: Literature
Mendeliome v0.2629 ALPK1 Zornitza Stark Phenotypes for gene: ALPK1 were changed from Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome; ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache
Mendeliome v0.2628 ALPK1 Zornitza Stark Classified gene: ALPK1 as Green List (high evidence)
Mendeliome v0.2628 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.23 DHX37 Zornitza Stark Marked gene: DHX37 as ready
Differences of Sex Development v0.23 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Differences of Sex Development v0.23 DHX37 Zornitza Stark Classified gene: DHX37 as Green List (high evidence)
Differences of Sex Development v0.23 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Differences of Sex Development v0.22 DHX37 Zornitza Stark gene: DHX37 was added
gene: DHX37 was added to Disorders of Sex Differentiation. Sources: Literature
Mode of inheritance for gene: DHX37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX37 were set to 31337883; 31745530
Phenotypes for gene: DHX37 were set to 46,XY gonadal dysgenesis; testicular regression syndrome (TRS)
Review for gene: DHX37 was set to GREEN
Added comment: Seventeen individuals reported in two studies.
Sources: Literature
Vitreoretinopathy v0.7 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Vitreoretinopathy v0.7 JAG1 Zornitza Stark Gene: jag1 has been classified as Amber List (Moderate Evidence).
Vitreoretinopathy v0.7 JAG1 Zornitza Stark Classified gene: JAG1 as Amber List (moderate evidence)
Vitreoretinopathy v0.7 JAG1 Zornitza Stark Gene: jag1 has been classified as Amber List (Moderate Evidence).
Vitreoretinopathy v0.6 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Vitreoretinopathy. Sources: Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 31273345
Phenotypes for gene: JAG1 were set to Familial exudative vitreoretinopathy
Review for gene: JAG1 was set to AMBER
Added comment: Three families reported with rare variants in JAG1: c.413C>T p. (A138V), c.1415G>A p. (R472H), and c.2884A>G p. (T962A. Some functional data.
Sources: Literature
Mendeliome v0.2627 RAMP2 Zornitza Stark Marked gene: RAMP2 as ready
Mendeliome v0.2627 RAMP2 Zornitza Stark Gene: ramp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2627 RAMP2 Zornitza Stark Classified gene: RAMP2 as Amber List (moderate evidence)
Mendeliome v0.2627 RAMP2 Zornitza Stark Gene: ramp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2626 RAMP2 Zornitza Stark gene: RAMP2 was added
gene: RAMP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAMP2 were set to 31000793
Phenotypes for gene: RAMP2 were set to Primary open angle glaucoma
Review for gene: RAMP2 was set to AMBER
Added comment: Six variants identified in 16 of 4763 POAG patients from large cohorts; none identified in 10,953 control individuals. Some functional data.
Sources: Literature
Mendeliome v0.2625 ALPK1 Zornitza Stark changed review comment from: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature; to: Three unrelated families reported with PFAPA phenotype. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature
Mendeliome v0.2625 ALPK1 Zornitza Stark edited their review of gene: ALPK1: Added comment: Six unrelated families reported with same recurrent missense variant c.710C>T, (p.Thr237Met) and ROSAH syndrome phenotype. Pancytopaenia and recurrent infections present in some.; Changed rating: GREEN; Changed publications: 31053777, 30967659, 31939038; Changed phenotypes: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome, ROSAH syndrome, retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache
Mendeliome v0.2625 MEPE Zornitza Stark Classified gene: MEPE as Amber List (moderate evidence)
Mendeliome v0.2625 MEPE Zornitza Stark Gene: mepe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2624 MEPE Zornitza Stark gene: MEPE was added
gene: MEPE was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MEPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPE were set to 30287925
Phenotypes for gene: MEPE were set to hereditary congenital facial paresis; otosclerosis
Review for gene: MEPE was set to AMBER
Added comment: Single four-generation family reported with variant in this gene segregating nonprogressive HCFP and mixed hearing loss (HL). Damaging variants (truncating/frameshift) found to be enriched in otosclerosis cohort (p = 0.0006–0.0060).
Sources: Literature
Mendeliome v0.2623 PAICS Zornitza Stark Marked gene: PAICS as ready
Mendeliome v0.2623 PAICS Zornitza Stark Gene: paics has been classified as Red List (Low Evidence).
Mendeliome v0.2623 PAICS Zornitza Stark gene: PAICS was added
gene: PAICS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAICS were set to 31600779
Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities
Review for gene: PAICS was set to RED
Added comment: Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function.
Sources: Literature
Cholestasis v0.18 GALM Zornitza Stark Marked gene: GALM as ready
Cholestasis v0.18 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cholestasis v0.18 GALM Zornitza Stark Classified gene: GALM as Green List (high evidence)
Cholestasis v0.18 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cholestasis v0.17 GALM Zornitza Stark gene: GALM was added
gene: GALM was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to 30451973; 30910422
Phenotypes for gene: GALM were set to type IV galactosaemia
Review for gene: GALM was set to GREEN
Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)

Note only two individuals were reported as having transient cholestasis.
Sources: Literature
Cataract v0.138 GALM Zornitza Stark Marked gene: GALM as ready
Cataract v0.138 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cataract v0.138 GALM Zornitza Stark Classified gene: GALM as Green List (high evidence)
Cataract v0.138 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cataract v0.137 GALM Zornitza Stark gene: GALM was added
gene: GALM was added to Cataract. Sources: Literature
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to 30451973; 30910422
Phenotypes for gene: GALM were set to galactosaemia; type IV galactosaemia
Review for gene: GALM was set to GREEN
Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)

Note only two of the reported individuals had cataracts.
Sources: Literature
Mendeliome v0.2622 GALM Zornitza Stark Marked gene: GALM as ready
Mendeliome v0.2622 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Mendeliome v0.2622 GALM Zornitza Stark Classified gene: GALM as Green List (high evidence)
Mendeliome v0.2622 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Mendeliome v0.2621 POLR3GL Zornitza Stark Marked gene: POLR3GL as ready
Mendeliome v0.2621 POLR3GL Zornitza Stark Added comment: Comment when marking as ready: Three cases altogether but the phenotypes are very different -- may still represent a spectrum with the more severe phenotypes resulting from truncating variants but further cases needed.
Mendeliome v0.2621 POLR3GL Zornitza Stark Gene: polr3gl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2621 POLR3GL Zornitza Stark Classified gene: POLR3GL as Amber List (moderate evidence)
Mendeliome v0.2621 POLR3GL Zornitza Stark Gene: polr3gl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2620 GALM Hazel Phillimore gene: GALM was added
gene: GALM was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to PMID: 30451973; 30910422
Phenotypes for gene: GALM were set to galactosaemia; type IV galactosaemia
Review for gene: GALM was set to GREEN
Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia.
In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973)
In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)
Sources: Literature
Mendeliome v0.2620 POLR3GL Paul De Fazio gene: POLR3GL was added
gene: POLR3GL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR3GL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3GL were set to 31089205; 31695177
Phenotypes for gene: POLR3GL were set to endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy
Review for gene: POLR3GL was set to AMBER
gene: POLR3GL was marked as current diagnostic
Added comment: Biallelic canonical splice variants were identified in monozygotic twins and another individual with similar phenotypes from 2 unrelated families. Variants were inherited from carrier parents. RNA studies confirmed exon skipping occurs in all affected individuals.

A separate study identified a homozygous nonsense variant in an individual with features of Neonatal progeroid syndrome/Wiedemann–Rautenstrauch syndrome. Quantitative PCR showed reduction in mRNA suggestive of NMD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2593 PHF21A Zornitza Stark Phenotypes for gene: PHF21A were changed from no OMIM number yet. to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725
Intellectual disability syndromic and non-syndromic v0.2592 PHF21A Zornitza Stark edited their review of gene: PHF21A: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2592 PHF21A Zornitza Stark reviewed gene: PHF21A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 618725; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.2592 CYFIP2 Zornitza Stark Phenotypes for gene: CYFIP2 were changed from Epileptic encephalopathy, early infantile, 65, MIM#618008 to Epileptic encephalopathy, early infantile, 65, MIM#618008; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.2591 CYFIP2 Zornitza Stark Publications for gene: CYFIP2 were set to 29534297
Intellectual disability syndromic and non-syndromic v0.2590 CYFIP2 Zornitza Stark edited their review of gene: CYFIP2: Added comment: Further 12 independent patients with a variety of de novo variants in CYFIP2 reported with eight distinct de novo variants and a shared phenotype of intellectual disability, seizures, and muscular hypotonia. Seven different missense variants detected, of which two occurred recurrently (p.(Arg87Cys) and p.(Ile664Met)). Preliminary genotype–phenotype correlation indicates a profound phenotype in p.Arg87 substitutions and a more variable phenotype in other alterations.; Changed publications: 29534297, 30664714; Changed phenotypes: Epileptic encephalopathy, early infantile, 65, MIM#618008, Intellectual disability
Deafness_IsolatedAndComplex v0.344 TSPEAR Zornitza Stark Tag disputed tag was added to gene: TSPEAR.
Mendeliome v0.2620 TSPEAR Zornitza Stark Marked gene: TSPEAR as ready
Mendeliome v0.2620 TSPEAR Zornitza Stark Added comment: Comment when marking as ready: Association with isolated deafness is DISPUTED.
Mendeliome v0.2620 TSPEAR Zornitza Stark Gene: tspear has been classified as Green List (High Evidence).
Mendeliome v0.2620 TSPEAR Zornitza Stark Phenotypes for gene: TSPEAR were changed from to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180
Mendeliome v0.2619 TSPEAR Zornitza Stark Publications for gene: TSPEAR were set to
Mendeliome v0.2618 TSPEAR Zornitza Stark Mode of inheritance for gene: TSPEAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2617 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Mendeliome v0.2617 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Mendeliome v0.2617 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from to Premature aging syndrome, Penttinen type, 601812
Mendeliome v0.2616 PDGFRB Zornitza Stark Mode of pathogenicity for gene: PDGFRB was changed from to Other
Mendeliome v0.2615 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to
Mendeliome v0.2614 PDGFRB Zornitza Stark Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.344 TBL1Y Zornitza Stark Marked gene: TBL1Y as ready
Deafness_IsolatedAndComplex v0.344 TBL1Y Zornitza Stark Gene: tbl1y has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.344 TBL1Y Zornitza Stark gene: TBL1Y was added
gene: TBL1Y was added to Deafness. Sources: Literature
Mode of inheritance for gene: TBL1Y was set to Other
Publications for gene: TBL1Y were set to 30341416
Phenotypes for gene: TBL1Y were set to Hearing loss
Review for gene: TBL1Y was set to RED
Added comment: Y-linked inheritance pattern. Complete segregation of a missense variant demonstrated in 9 affected males in a 5-generation pedigree. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Mendeliome v0.2613 TBL1Y Zornitza Stark Marked gene: TBL1Y as ready
Mendeliome v0.2613 TBL1Y Zornitza Stark Added comment: Comment when marking as ready: Single family, some functional data.
Mendeliome v0.2613 TBL1Y Zornitza Stark Gene: tbl1y has been classified as Red List (Low Evidence).
Mendeliome v0.2613 TBL1Y Zornitza Stark Classified gene: TBL1Y as Red List (low evidence)
Mendeliome v0.2613 TBL1Y Zornitza Stark Gene: tbl1y has been classified as Red List (Low Evidence).
Mendeliome v0.2612 DGCR8 Zornitza Stark Marked gene: DGCR8 as ready
Mendeliome v0.2612 DGCR8 Zornitza Stark Gene: dgcr8 has been classified as Red List (Low Evidence).
Mendeliome v0.2612 DGCR8 Zornitza Stark Classified gene: DGCR8 as Red List (low evidence)
Mendeliome v0.2612 DGCR8 Zornitza Stark Gene: dgcr8 has been classified as Red List (Low Evidence).
Mendeliome v0.2611 TSPEAR Chern Lim changed review comment from: Still a rare disease gene for ectodermal dysplasia but has been reported in at least 3 unrelated families. Functional study supported LoF. (PMIDs: 27736875, 30046887); to: Still a rare disease gene for ectodermal dysplasia but has been reported in at least 3 unrelated families in 2 papers. Functional study supported LoF. (PMIDs: 27736875, 30046887)
Mendeliome v0.2611 TSPEAR Chern Lim reviewed gene: TSPEAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27736875, 30046887; Phenotypes: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2611 PDGFRB Ee Ming Wong changed review comment from: - > 3 unrelated families
- Functional studies on patient fibroblasts, HeLa and HEK293 cells harbouring mutant constructs demonstrate constitutive tyrosine kinase activation (gain of function) compared with WT constructs; to: - > 3 unrelated individuals diagnosed with Penttinen syndrome
- Functional studies on patient fibroblasts, HeLa and HEK293 cells harbouring mutant constructs demonstrate constitutive tyrosine kinase activation (gain of function) compared with WT constructs
Mendeliome v0.2611 PDGFRB Ee Ming Wong reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30573803, 26279204; Phenotypes: Premature aging syndrome, Penttinen type, 601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2611 TBL1Y Paul De Fazio changed review comment from: 9 affected males in a single 5-generation pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature; to: Y-linked inheritance pattern. Complete segregation of a missense variant demonstrated in 9 affected males in a 5-generation pedigree. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Mendeliome v0.2611 TBL1Y Paul De Fazio changed review comment from: 9 affected males in a single pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature; to: 9 affected males in a single 5-generation pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Mendeliome v0.2611 TBL1Y Paul De Fazio gene: TBL1Y was added
gene: TBL1Y was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TBL1Y was set to Other
Publications for gene: TBL1Y were set to 30341416
Phenotypes for gene: TBL1Y were set to Hearing loss
Review for gene: TBL1Y was set to RED
gene: TBL1Y was marked as current diagnostic
Added comment: 9 affected males in a single pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Marked gene: FOXF2 as ready
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Classified gene: FOXF2 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.343 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.342 FOXF2 Zornitza Stark gene: FOXF2 was added
gene: FOXF2 was added to Deafness. Sources: Literature
Mode of inheritance for gene: FOXF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXF2 were set to 30561639; 22022403
Phenotypes for gene: FOXF2 were set to profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea
Review for gene: FOXF2 was set to AMBER
Added comment: Single family: variant has functional data to demonstrate effect on protein, plus mouse model supports gene-disease association.
Sources: Literature
Cataract v0.136 TDRD7 Zornitza Stark Marked gene: TDRD7 as ready
Cataract v0.136 TDRD7 Zornitza Stark Gene: tdrd7 has been classified as Green List (High Evidence).
Mendeliome v0.2611 FOXF2 Zornitza Stark Marked gene: FOXF2 as ready
Mendeliome v0.2611 FOXF2 Zornitza Stark Added comment: Comment when marking as ready: Single family: variant has functional data to demonstrate effect on protein, plus mouse model supports gene-disease association.
Mendeliome v0.2611 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2611 FOXF2 Zornitza Stark Classified gene: FOXF2 as Amber List (moderate evidence)
Mendeliome v0.2611 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2610 DGCR8 Chern Lim gene: DGCR8 was added
gene: DGCR8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DGCR8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DGCR8 were set to 31805011
Phenotypes for gene: DGCR8 were set to Early-onset multinodular goiter and schwannomatosis
Review for gene: DGCR8 was set to RED
Added comment: A germline missense variant segregates in one family with autosomal dominant mendelian tumor susceptibility syndrome: familial multinodular goiter (MNG) with schwannomatosis. The missense is also a recurrent somatic missense variant in Wilms tumour. (PMID:31805011)
Sources: Literature
Cataract v0.136 TDRD7 Zornitza Stark Phenotypes for gene: TDRD7 were changed from to Cataract 36 613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis
Cataract v0.135 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to
Cataract v0.134 TDRD7 Zornitza Stark Mode of inheritance for gene: TDRD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.133 TDRD7 Zornitza Stark reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 28837160, 21436445; Phenotypes: Cataract 36 613887, glaucoma, nonobstructive azoospermia, arrested spermatogenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2610 TDRD7 Zornitza Stark Phenotypes for gene: TDRD7 were changed from to Cataract 36 613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis
Mendeliome v0.2609 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to
Mendeliome v0.2608 TDRD7 Zornitza Stark Mode of inheritance for gene: TDRD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2607 TDRD7 Ee Ming Wong reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28837160, 21436445; Phenotypes: cataract, glaucoma, nonobstructive azoospermia, arrested spermatogenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2607 FOXF2 Hazel Phillimore changed review comment from: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).
This gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403).
Sources: Literature; to: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).
This gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403).
Previous names for FOXF2 include FKHL6 and FREAC2.
Sources: Literature
Mendeliome v0.2607 FOXF2 Hazel Phillimore gene: FOXF2 was added
gene: FOXF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOXF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXF2 were set to PMID: 30561639; 22022403
Phenotypes for gene: FOXF2 were set to profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea
Review for gene: FOXF2 was set to AMBER
Added comment: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).
This gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403).
Sources: Literature
Congenital Myasthenia v0.21 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Congenital Myasthenia v0.21 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Congenital Myasthenia v0.21 COL13A1 Zornitza Stark Publications for gene: COL13A1 were set to
Congenital Myasthenia v0.20 COL13A1 Zornitza Stark reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2607 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Mendeliome v0.2607 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Mendeliome v0.2607 COL13A1 Zornitza Stark Phenotypes for gene: COL13A1 were changed from to Myasthenic syndrome, congenital, 19 (OMIM #616720)
Mendeliome v0.2606 COL13A1 Zornitza Stark Publications for gene: COL13A1 were set to
Mendeliome v0.2605 COL13A1 Zornitza Stark Mode of inheritance for gene: COL13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2604 KIAA1161 Zornitza Stark Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317 to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317; primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome
Mendeliome v0.2603 KIAA1161 Zornitza Stark Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000
Mendeliome v0.2602 COL13A1 Hazel Phillimore reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2602 KIAA1161 Hazel Phillimore reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29910000, 31009047; Phenotypes: Basal ganglia calcification, idiopathic, 7, autosomal recessive (OMIM #618317), primary familial brain calcifications (PFBC), ataxia, dysarthria, cerebellar atrophy, akinetic-hypertonic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.212 CACNA1A Bryony Thompson Classified gene: CACNA1A as Green List (high evidence)
Ataxia v0.212 CACNA1A Bryony Thompson Added comment: Comment on list classification: Ataxia can be caused by a triplet repeat expansion in this gene, which is not detectable with current WES/WGS technologies. However, SNVs have also been reported as disease-causing.
Ataxia v0.212 CACNA1A Bryony Thompson Gene: cacna1a has been classified as Green List (High Evidence).
Ataxia v0.211 CACNA1A Bryony Thompson Tag STR tag was added to gene: CACNA1A.
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark edited their review of gene: SPEF2: Changed phenotypes: Spermatogenic failure 43, MIM#618751, Primary ciliary dyskinesia-like phenotype
Mitochondrial disease v0.438 GMPR Zornitza Stark Marked gene: GMPR as ready
Mitochondrial disease v0.438 GMPR Zornitza Stark Gene: gmpr has been classified as Red List (Low Evidence).
Mendeliome v0.2602 CACNB4 Zornitza Stark changed review comment from: One multigenerational family and supportive animal model data.; to: One multigenerational family with ataxia and supportive animal model data.
Mendeliome v0.2602 CACNB4 Zornitza Stark edited their review of gene: CACNB4: Added comment: PMID 32176688: A homozygous missense variant (Leu126Pro) reported in two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy. Some functional data.; Changed publications: 10762541, 9628818, 27003325, 32176688; Changed phenotypes: Episodic ataxia, type 5, MIM#613855, Intellectual disability, Epilepsy, Movement disorder
Intellectual disability syndromic and non-syndromic v0.2590 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Intellectual disability syndromic and non-syndromic v0.2590 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2590 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2590 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2589 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 32100459
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500; Microcephaly; Intellectual disability
Review for gene: CEP55 was set to GREEN
Added comment: Homozygous nonsense variants in CEP55 are associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel-like syndrome. New report of seven living individuals from five families with biallelic CEP55 variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all had a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants. Three siblings were homozygous for a consensus splice site variant near the end of the gene. These affected girls all had severely delayed development, microcephaly, and varying degrees of lissencephaly/pachygyria. This series suggests that individuals with compound heterozygosity for nonsense and missense variants in CEP55 have a different viable phenotype.
Sources: Literature
Microcephaly v0.120 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Microcephaly v0.120 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Microcephaly v0.120 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Microcephaly v0.120 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Microcephaly v0.119 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 32100459
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500; Microcephaly; Intellectual disability
Review for gene: CEP55 was set to GREEN
Added comment: Homozygous nonsense variants in CEP55 are associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel-like syndrome. New report of seven living individuals from five families with biallelic CEP55 variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all had a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants. Three siblings were homozygous for a consensus splice site variant near the end of the gene. These affected girls all had severely delayed development, microcephaly, and varying degrees of lissencephaly/pachygyria. This series suggests that individuals with compound heterozygosity for nonsense and missense variants in CEP55 have a different viable phenotype.
Sources: Literature
Cholestasis v0.16 WDR83OS Zornitza Stark Marked gene: WDR83OS as ready
Cholestasis v0.16 WDR83OS Zornitza Stark Gene: wdr83os has been classified as Red List (Low Evidence).
Cholestasis v0.16 WDR83OS Zornitza Stark gene: WDR83OS was added
gene: WDR83OS was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR83OS were set to 30250217
Phenotypes for gene: WDR83OS were set to Cholestasis
Review for gene: WDR83OS was set to RED
Added comment: - 1 consanguineous family with 3 affected individuals found to carry a homozygous splice site variant in WDR83OS - The variant results in an aberrant truncated RNA transcript as demonstrated by RT-PCR
Sources: Literature
Mendeliome v0.2602 WDR83OS Zornitza Stark Marked gene: WDR83OS as ready
Mendeliome v0.2602 WDR83OS Zornitza Stark Gene: wdr83os has been classified as Red List (Low Evidence).
Mendeliome v0.2602 WDR83OS Zornitza Stark Publications for gene: WDR83OS were set to PMID: 30250217
Mendeliome v0.2601 WDR83OS Zornitza Stark Classified gene: WDR83OS as Red List (low evidence)
Mendeliome v0.2601 WDR83OS Zornitza Stark Gene: wdr83os has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.8 Bryony Thompson Panel name changed from Fatty Oxidation Defects to Fatty Acid Oxidation Defects
Fatty Acid Oxidation Defects v0.7 ACADSB Bryony Thompson gene: ACADSB was added
gene: ACADSB was added to Fatty Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADSB were set to 11013134; 17945527; 30730842
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria MIM#610006
Review for gene: ACADSB was set to GREEN
Added comment: The enzyme catalyses the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. SBCAD deficiency is symptomatic in about 10% of reported patients.
Sources: Expert list
Fatty Acid Oxidation Defects v0.6 OXCT1 Bryony Thompson Classified gene: OXCT1 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.6 OXCT1 Bryony Thompson Gene: oxct1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.5 OXCT1 Bryony Thompson gene: OXCT1 was added
gene: OXCT1 was added to Fatty Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXCT1 were set to 8751852; 10964512; 28178565
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Review for gene: OXCT1 was set to GREEN
Added comment: The enzyme catalyses the first step of ketone body utilization, ketone bodies are produced predominantly in the liver from fatty acid oxidation-derived acetyl-coenzyme A (CoA), and they are transported to extrahepatic tissues for terminal oxidation. At least 4 cases reported with the condition.
Sources: Expert list
Fatty Acid Oxidation Defects v0.4 ACAT1 Bryony Thompson Classified gene: ACAT1 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.4 ACAT1 Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.3 ACAT1 Bryony Thompson gene: ACAT1 was added
gene: ACAT1 was added to Fatty Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 17236799; 1715688
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria MIM#203750; Deficiency of acetyl-CoA acetyltransferase
Review for gene: ACAT1 was set to GREEN
Added comment: Is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA. Biallelic variants have been identified in at least 7 families.
Sources: Expert list
Cholestasis v0.15 LSR Zornitza Stark Marked gene: LSR as ready
Cholestasis v0.15 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.15 LSR Zornitza Stark Classified gene: LSR as Amber List (moderate evidence)
Cholestasis v0.15 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.14 LSR Zornitza Stark gene: LSR was added
gene: LSR was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: LSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSR were set to 32303357; 30250217
Phenotypes for gene: LSR were set to transient neonatal cholestasis; intellectual disability; short stature
Review for gene: LSR was set to AMBER
Added comment: Two families reported.
Sources: Literature
Mendeliome v0.2600 LSR Zornitza Stark Marked gene: LSR as ready
Mendeliome v0.2600 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2600 LSR Zornitza Stark Publications for gene: LSR were set to PMID: 30250217
Mendeliome v0.2599 LSR Zornitza Stark Classified gene: LSR as Amber List (moderate evidence)
Mendeliome v0.2599 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2598 WDR83OS Ee Ming Wong gene: WDR83OS was added
gene: WDR83OS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR83OS were set to PMID: 30250217
Phenotypes for gene: WDR83OS were set to Cholestasis
Review for gene: WDR83OS was set to RED
Added comment: - 1 consanguineous family with 3 affected individuals found to carry a homozygous splice site variant in WDR83OS
- The variant results in an aberrant truncated RNA transcript as demonstrated by RT-PCR
Sources: Literature
Mendeliome v0.2598 LSR Zornitza Stark reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 32303357, 30250217; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2598 LSR Zornitza Stark Deleted their review
Mendeliome v0.2598 LSR Zornitza Stark Classified gene: LSR as Green List (high evidence)
Mendeliome v0.2598 LSR Zornitza Stark Gene: lsr has been classified as Green List (High Evidence).
Mendeliome v0.2597 LSR Zornitza Stark reviewed gene: LSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 32303357; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2597 LSR Zornitza Stark Classified gene: LSR as Amber List (moderate evidence)
Mendeliome v0.2597 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.13 USP53 Zornitza Stark Marked gene: USP53 as ready
Cholestasis v0.13 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Cholestasis v0.13 USP53 Zornitza Stark Classified gene: USP53 as Green List (high evidence)
Cholestasis v0.13 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Cholestasis v0.12 USP53 Zornitza Stark gene: USP53 was added
gene: USP53 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP53 were set to 30250217; 32124521
Phenotypes for gene: USP53 were set to Cholestasis; deafness
Review for gene: USP53 was set to GREEN
Added comment: 8 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness.
Sources: Literature
Mendeliome v0.2596 USP53 Zornitza Stark Publications for gene: USP53 were set to PMID: 30250217
Mendeliome v0.2595 LSR Ee Ming Wong reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32303357, 30250217; Phenotypes: Intrahepatic cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2595 USP53 Zornitza Stark Marked gene: USP53 as ready
Mendeliome v0.2595 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Mendeliome v0.2595 USP53 Zornitza Stark Phenotypes for gene: USP53 were changed from Deafness to Cholestasis; deafness
Mendeliome v0.2594 USP53 Zornitza Stark Classified gene: USP53 as Green List (high evidence)
Mendeliome v0.2594 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Mendeliome v0.2593 USP53 Zornitza Stark reviewed gene: USP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 32124521; Phenotypes: Cholestasis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2593 LSR Ee Ming Wong Deleted their review
Mendeliome v0.2593 USP53 Zornitza Stark Classified gene: USP53 as Red List (low evidence)
Mendeliome v0.2593 USP53 Zornitza Stark Gene: usp53 has been classified as Red List (Low Evidence).
Mendeliome v0.2592 LSR Ee Ming Wong gene: LSR was added
gene: LSR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSR were set to PMID: 30250217
Phenotypes for gene: LSR were set to transient neonatal cholestasis; intellectual disability; short stature
Review for gene: LSR was set to RED
Added comment: 1 individual from 1 consanguineous family carrying a homozygous missense variant in LSR
Sources: Literature
Cholestasis v0.11 PPM1F Zornitza Stark Marked gene: PPM1F as ready
Cholestasis v0.11 PPM1F Zornitza Stark Gene: ppm1f has been classified as Red List (Low Evidence).
Cholestasis v0.11 PPM1F Zornitza Stark gene: PPM1F was added
gene: PPM1F was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: PPM1F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1F were set to 30250217
Phenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentatio
Review for gene: PPM1F was set to RED
Added comment: One consanguineous family reported.
Sources: Literature
Mendeliome v0.2592 PPM1F Zornitza Stark Marked gene: PPM1F as ready
Mendeliome v0.2592 PPM1F Zornitza Stark Gene: ppm1f has been classified as Red List (Low Evidence).
Mendeliome v0.2592 PPM1F Zornitza Stark Classified gene: PPM1F as Red List (low evidence)
Mendeliome v0.2592 PPM1F Zornitza Stark Gene: ppm1f has been classified as Red List (Low Evidence).
Mendeliome v0.2591 USP53 Ee Ming Wong gene: USP53 was added
gene: USP53 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP53 were set to PMID: 30250217
Phenotypes for gene: USP53 were set to Deafness
Review for gene: USP53 was set to RED
Added comment: 1 consanguineous family carrying a homozygous truncating variant in USP53
Sources: Literature
Mendeliome v0.2591 PPM1F Ee Ming Wong gene: PPM1F was added
gene: PPM1F was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPM1F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1F were set to PMID: 30250217
Phenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentation
Review for gene: PPM1F was set to RED
Added comment: 1 consanguineous family found to carry a homozygous missense variant in PPM1F
Sources: Literature
Fatty Acid Oxidation Defects v0.2 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Aortopathy_Connective Tissue Disorders v0.24 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Glycogen Storage Diseases v0.4 RBCK1 Bryony Thompson Classified gene: RBCK1 as Green List (high evidence)
Glycogen Storage Diseases v0.4 RBCK1 Bryony Thompson Gene: rbck1 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.3 RBCK1 Bryony Thompson gene: RBCK1 was added
gene: RBCK1 was added to Glycogen Storage Diseases. Sources: Expert list
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBCK1 were set to 23798481; 23104095
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895
Review for gene: RBCK1 was set to GREEN
Added comment: Biallelic variants cause polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy, which is characterised as a glycogen storage disorder. At least 9 families reported.
Sources: Expert list
Glycogen Storage Diseases v0.2 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Stroke v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Stroke v0.0 NOS3 Bryony Thompson gene: NOS3 was added
gene: NOS3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NOS3 was set to Unknown
Stroke v0.0 MYH11 Bryony Thompson gene: MYH11 was added
gene: MYH11 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4
Stroke v0.0 MUT Bryony Thompson gene: MUT was added
gene: MUT was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Stroke v0.0 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease
Stroke v0.0 FLNA Bryony Thompson gene: FLNA was added
gene: FLNA was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FLNA were set to Periventricular nodular heterotopia 1
Stroke v0.0 WFS1 Bryony Thompson gene: WFS1 was added
gene: WFS1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Diabetes mellitus AND insipidus with optic atrophy AND deafness
Stroke v0.0 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to Amyloidogenic transthyretin amyloidosis
Stroke v0.0 TREX1 Bryony Thompson gene: TREX1 was added
gene: TREX1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TREX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TREX1 were set to Vasculopathy, retinal, with cerebral leukodystrophy
Stroke v0.0 STIM1 Bryony Thompson gene: STIM1 was added
gene: STIM1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STIM1 were set to Stormorken syndrome
Stroke v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Stroke v0.0 SLC2A10 Bryony Thompson gene: SLC2A10 was added
gene: SLC2A10 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to 208050; Moyamoya disease; Arterial tortuosity syndrome
Stroke v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stroke v0.0 OTC Bryony Thompson gene: OTC was added
gene: OTC was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine carbamoyltransferase deficiency
Stroke v0.0 NOTCH3 Bryony Thompson gene: NOTCH3 was added
gene: NOTCH3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH3 were set to Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Stroke v0.0 HTRA1 Bryony Thompson gene: HTRA1 was added
gene: HTRA1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were set to Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
Stroke v0.0 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300
Stroke v0.0 CST3 Bryony Thompson gene: CST3 was added
gene: CST3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CST3 were set to Hereditary cerebral amyloid angiopathy, Icelandic type
Stroke v0.0 COL4A1 Bryony Thompson gene: COL4A1 was added
gene: COL4A1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A1 were set to Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage
Stroke v0.0 ASS1 Bryony Thompson gene: ASS1 was added
gene: ASS1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia type
Stroke v0.0 APP Bryony Thompson gene: APP was added
gene: APP was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APP were set to Cerebral amyloid angiopathy, APP-related
Stroke v0.0 ADA2 Bryony Thompson gene: ADA2 was added
gene: ADA2 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Polyarteritis nodosa; Sneddon syndrome 182410
Stroke v0.0 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376
Stroke v0.0 ACAD9 Bryony Thompson gene: ACAD9 was added
gene: ACAD9 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Acyl-CoA dehydrogenase family, member 9, deficiency of
Stroke v0.0 ABCC6 Bryony Thompson gene: ABCC6 was added
gene: ABCC6 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum, forme fruste
Stroke v0.0 Bryony Thompson Added panel Stroke
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark Marked gene: SPEF2 as ready
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark Gene: spef2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.32 SPEF2 Zornitza Stark Phenotypes for gene: SPEF2 were changed from Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Ciliary Dyskinesia v0.31 SPEF2 Zornitza Stark Classified gene: SPEF2 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.31 SPEF2 Zornitza Stark Gene: spef2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.30 SPEF2 Zornitza Stark gene: SPEF2 was added
gene: SPEF2 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Review for gene: SPEF2 was set to AMBER
Added comment: 4 families reported with bi-allelic variants and sperm morphological abnormalities plus recurrent sinopulmonary infections and bronchiectasis, consistent with a PCD-like phenotype. Morphological abnormalities of the respiratory cilia were not observed. Mouse model recapitulated the infertility phenotype but also had hydrocephalus and sinusitis, again arguing for broader impact on ciliary function. Note other reports of individuals with bi-allelic variants and no respiratory phenotype reported. Given respiratory phenotype is milder and currently it is unclear in what proportion of individuals it is present, Amber rating on this panel for now.
Sources: Literature
Mendeliome v0.2591 SPEF2 Zornitza Stark Phenotypes for gene: SPEF2 were changed from Spermatogenic failure 43, MIM#618751 to Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Mendeliome v0.2590 SPEF2 Zornitza Stark Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344
Mendeliome v0.2589 SPEF2 Zornitza Stark reviewed gene: SPEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942643; Phenotypes: Spermatogenic failure 43, MIM#618751, Primary ciliary dyskinesia-like phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.58 KLC2 Zornitza Stark Marked gene: KLC2 as ready
Hereditary Neuropathy v0.58 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.58 KLC2 Zornitza Stark Classified gene: KLC2 as Green List (high evidence)
Hereditary Neuropathy v0.58 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.57 KLC2 Zornitza Stark reviewed gene: KLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia, optic atrophy, and neuropathy MIM#609541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.82 KLC2 Zornitza Stark Classified gene: KLC2 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.82 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.81 KLC2 Zornitza Stark reviewed gene: KLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2589 KLC2 Zornitza Stark Marked gene: KLC2 as ready
Mendeliome v0.2589 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Mendeliome v0.2589 KLC2 Zornitza Stark Tag SV/CNV tag was added to gene: KLC2.
Mendeliome v0.2589 KLC2 Zornitza Stark Classified gene: KLC2 as Green List (high evidence)
Mendeliome v0.2589 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Mendeliome v0.2588 KLC2 Zornitza Stark gene: KLC2 was added
gene: KLC2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Review for gene: KLC2 was set to GREEN
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Only reported cause of condition is the upstream large deletion, which is not detected by whole-exome sequencing.
Sources: Expert Review
Cholestasis v0.10 KIF12 Zornitza Stark Marked gene: KIF12 as ready
Cholestasis v0.10 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Cholestasis v0.10 KIF12 Zornitza Stark Classified gene: KIF12 as Green List (high evidence)
Cholestasis v0.10 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Cholestasis v0.9 KIF12 Zornitza Stark gene: KIF12 was added
gene: KIF12 was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: KIF12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF12 were set to 30250217; 30976738
Phenotypes for gene: KIF12 were set to Cholestasis; High Gamma-Glutamyltransferase (GGT)
Review for gene: KIF12 was set to GREEN
Added comment: Five unrelated consanguineous families, with four different homozygous variants identified, some truncating, others missense.
Sources: Expert list
Mendeliome v0.2587 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Prenatal cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis; High Gamma-Glutamyltransferase (GGT)
Mendeliome v0.2586 KIF12 Zornitza Stark Marked gene: KIF12 as ready
Mendeliome v0.2586 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Mendeliome v0.2586 KIF12 Zornitza Stark Publications for gene: KIF12 were set to PMID: 30250217; 30976738
Mendeliome v0.2585 KIF12 Zornitza Stark Classified gene: KIF12 as Green List (high evidence)
Mendeliome v0.2585 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Mendeliome v0.2584 KIF12 Zornitza Stark reviewed gene: KIF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250217, 30976738; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.27 GCH1 Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dopa-responsive dystonia, exercise-induced dystonia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.27 PNKD Zornitza Stark Marked gene: PNKD as ready
Paroxysmal Dyskinesia v0.27 PNKD Zornitza Stark Gene: pnkd has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.27 PNKD Zornitza Stark Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
Paroxysmal Dyskinesia v0.26 PNKD Zornitza Stark Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.25 PNKD Zornitza Stark reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.25 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Paroxysmal Dyskinesia v0.25 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.25 ECHS1 Zornitza Stark Phenotypes for gene: ECHS1 were changed from early onset Leigh syndrome; later onset Leigh-like syndrome; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease) to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)
Paroxysmal Dyskinesia v0.24 ECHS1 Zornitza Stark Publications for gene: ECHS1 were set to Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31:1041–8 (PMID: 2709; 0768); Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264:185–7. (PMID: 2803; 9521)
Paroxysmal Dyskinesia v0.23 ECHS1 Zornitza Stark reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27090768, 28039521; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277, paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.23 ECHS1 Zornitza Stark Classified gene: ECHS1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.23 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.22 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Paroxysmal Dyskinesia v0.22 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.22 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy. to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170; Paroxysmal dyskinesia (exercise induced or without clear trigger
Paroxysmal Dyskinesia v0.21 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to Barnerias C et al. 2010 Dev Med Child Neurol. 52:e1-e9 (PMID: 2000; 2125); Patel et al. 2012 Mol Genet Metab 105(1):34-43 (PMID: 2207; 9328)
Paroxysmal Dyskinesia v0.20 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20002125, 22079328; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170, Paroxysmal dyskinesia (exercise induced or without clear trigger; Mode of inheritance: Other
Paroxysmal Dyskinesia v0.20 PDHA1 Zornitza Stark Classified gene: PDHA1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.20 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.19 PDHX Zornitza Stark Marked gene: PDHX as ready
Paroxysmal Dyskinesia v0.19 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.19 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from to Lactic acidemia due to PDX1 deficiency, MIM# 245349; episodic dystonia; Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features)
Paroxysmal Dyskinesia v0.18 PDHX Zornitza Stark Publications for gene: PDHX were set to
Paroxysmal Dyskinesia v0.17 PDHX Zornitza Stark Mode of inheritance for gene: PDHX was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.16 PDHX Zornitza Stark Classified gene: PDHX as Green List (high evidence)
Paroxysmal Dyskinesia v0.16 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.15 PDHX Zornitza Stark commented on gene: PDHX: Paroxysmal dystonia secondary to basal ganglia lesions
Paroxysmal Dyskinesia v0.15 PDHX Zornitza Stark edited their review of gene: PDHX: Changed publications: 16566017, 20002125
Paroxysmal Dyskinesia v0.15 PDHX Zornitza Stark reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: 16566017; Phenotypes: Lactic acidemia due to PDX1 deficiency, MIM# 245349, episodic dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.15 DLAT Zornitza Stark Marked gene: DLAT as ready
Paroxysmal Dyskinesia v0.15 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.15 DLAT Zornitza Stark Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency, MIM# 245348; Episodic dystonia (Exercise induced or without clear trigger)
Paroxysmal Dyskinesia v0.14 DLAT Zornitza Stark Publications for gene: DLAT were set to
Paroxysmal Dyskinesia v0.13 DLAT Zornitza Stark Classified gene: DLAT as Green List (high evidence)
Paroxysmal Dyskinesia v0.13 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.12 DLAT Zornitza Stark reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20022530, 29093066; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM# 245348, Episodic dystonia (Exercise induced or without clear trigger); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.12 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Paroxysmal Dyskinesia v0.12 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.12 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from Dopa-responsive dystonia; exercise-induced dystonia to Dopa-responsive dystonia; exercise-induced dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
Paroxysmal Dyskinesia v0.11 GCH1 Zornitza Stark Classified gene: GCH1 as Green List (high evidence)
Paroxysmal Dyskinesia v0.11 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Marked gene: ALPK1 as ready
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Classified gene: ALPK1 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.68 ALPK1 Zornitza Stark gene: ALPK1 was added
gene: ALPK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to 31053777
Phenotypes for gene: ALPK1 were set to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
Review for gene: ALPK1 was set to AMBER
Added comment: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Marked gene: CSGALNACT1 as ready
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Mendeliome v0.2584 ALPK1 Zornitza Stark Marked gene: ALPK1 as ready
Mendeliome v0.2584 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2584 ALPK1 Zornitza Stark Classified gene: ALPK1 as Amber List (moderate evidence)
Mendeliome v0.2584 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2583 ALPK1 Zornitza Stark gene: ALPK1 was added
gene: ALPK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to 31053777
Phenotypes for gene: ALPK1 were set to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
Review for gene: ALPK1 was set to AMBER
Added comment: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature
Paroxysmal Dyskinesia v0.10 GCH1 Eunice Chan edited their review of gene: GCH1: Changed phenotypes: Dopa-responsive dystonia, exercise-induced dystonia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2588 LRRC32 Zornitza Stark Marked gene: LRRC32 as ready
Intellectual disability syndromic and non-syndromic v0.2588 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2588 LRRC32 Zornitza Stark Classified gene: LRRC32 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2588 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2587 LRRC32 Zornitza Stark gene: LRRC32 was added
gene: LRRC32 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC32 were set to 30976112
Phenotypes for gene: LRRC32 were set to Intellectual disability; cleft palate; proliferative retinopathy
Review for gene: LRRC32 was set to AMBER
Added comment: Three individuals from two consanguineous families segregated the same homozygous bi-allelic variant, c.1630C>T; p.(Arg544Ter), shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Literature
Mendeliome v0.2582 LRRC32 Zornitza Stark Marked gene: LRRC32 as ready
Mendeliome v0.2582 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2582 LRRC32 Zornitza Stark Classified gene: LRRC32 as Amber List (moderate evidence)
Mendeliome v0.2582 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2581 LRRC32 Zornitza Stark gene: LRRC32 was added
gene: LRRC32 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC32 were set to 30976112
Phenotypes for gene: LRRC32 were set to Intellectual disability; cleft palate; proliferative retinopathy
Review for gene: LRRC32 was set to AMBER
Added comment: Three individuals from two consanguineous families segregated the same homozygous bi-allelic variant, c.1630C>T; p.(Arg544Ter), shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Literature
Mendeliome v0.2580 KIF12 Ee Ming Wong gene: KIF12 was added
gene: KIF12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF12 were set to PMID: 30250217; 30976738
Phenotypes for gene: KIF12 were set to Prenatal cholestasis; High Gamma-Glutamyltransferase (GGT)
Review for gene: KIF12 was set to AMBER
gene: KIF12 was marked as current diagnostic
Added comment: > 3 unrelated families,but they are all consanguineous families
Sources: Literature
Paroxysmal Dyskinesia v0.10 GCH1 Eunice Chan commented on gene: GCH1
Paroxysmal Dyskinesia v0.10 GCH1 Eunice Chan gene: GCH1 was added
gene: GCH1 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dopa-responsive dystonia; exercise-induced dystonia
Aortopathy_Connective Tissue Disorders v0.23 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Aortopathy_Connective Tissue Disorders v0.23 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.23 SMAD4 Zornitza Stark Classified gene: SMAD4 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v0.23 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.22 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD4 were set to 30809044
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Thoracic aortic aneurysm
Review for gene: SMAD4 was set to GREEN
Added comment: SMAD4 pathogenic variants cause juvenile polyposis (JPS) and hereditary hemorrhagic telangiectasia (HHT), and 40% of affected individuals also have thoracic aortic disease. Three individuals recently reported with rare/novel missense and isolated thoracic aortic aneurysm.
Sources: Literature
Paroxysmal Dyskinesia v0.10 DLAT Eunice Chan edited their review of gene: DLAT: Changed publications: McWilliam et al. 2010. Eur J Paediatr Neurol 14(4):349-53 (PMID: 2002, 2530), Friedman J et al. 2017. Neurology 89: 2297-2298 (PMID:; Changed phenotypes: Episodic dystonia (Exercise induced or without clear trigger)
Paroxysmal Dyskinesia v0.10 PDHX Eunice Chan commented on gene: PDHX: PDX1 deficiency
Paroxysmal Dyskinesia v0.10 DLAT Eunice Chan gene: DLAT was added
gene: DLAT was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Also known as pyruvate dehydrogenase E2 deficiency
Sources: Literature
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.10 PDHX Eunice Chan reviewed gene: PDHX: Rating: ; Mode of pathogenicity: None; Publications: Schiff et al 2006 Ann Neurol 59(4):709-14 (PMID: 1656, 6017); Phenotypes: Paroxysmal dyskinesia (exercise induced or without clear trigger, isolated or with additional features), mitochondrial disorder (Leigh syndrome, ataxia), neurodevelopmental disability, epilepsy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.25 SCAPER Zornitza Stark gene: SCAPER was added
gene: SCAPER was added to Bardet Biedl syndrome. Sources: Literature
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 30723319; 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome
Review for gene: SCAPER was set to GREEN
Added comment: Two distantly related consanguineous families reported plus note some of the individuals in the preceding papers had a BBS phenotype. Functional data to associate SCAPER with ciliary dynamics and disassembly.
Sources: Literature
Paroxysmal Dyskinesia v0.10 PDHX Eunice Chan gene: PDHX was added
gene: PDHX was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: PDHX was set to Other
Paroxysmal Dyskinesia v0.10 PDHA1 Eunice Chan gene: PDHA1 was added
gene: PDHA1 was added to Paroxysmal Dyskinesia. Sources: Expert Review
Mode of inheritance for gene: PDHA1 was set to Other
Publications for gene: PDHA1 were set to Barnerias C et al. 2010 Dev Med Child Neurol. 52:e1-e9 (PMID: 2000; 2125); Patel et al. 2012 Mol Genet Metab 105(1):34-43 (PMID: 2207; 9328)
Phenotypes for gene: PDHA1 were set to Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy.
Added comment: Phenotype can be quite broad
XLR inheritance - phenotype in females dependent on X-chromosome inactivation patterns

May respond to thiamine supplementation
Sources: Expert Review
Mendeliome v0.2580 CSGALNACT1 Zornitza Stark Publications for gene: CSGALNACT1 were set to
Mendeliome v0.2579 CSGALNACT1 Zornitza Stark reviewed gene: CSGALNACT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31705726, 31325655; Phenotypes: Congenital disorder of glycosylation, skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Classified gene: CSGALNACT1 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.45 CSGALNACT1 Zornitza Stark gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSGALNACT1 were set to 31705726; 31325655
Phenotypes for gene: CSGALNACT1 were set to Congenital disorder of glycosylation; skeletal dysplasia
Review for gene: CSGALNACT1 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.2579 UBAP1 Zornitza Stark Phenotypes for gene: UBAP1 were changed from Spastic paraplegia 80, autosomal dominant 618418 to Childhood-onset hereditary spastic paraplegia; Spastic paraplegia 80, autosomal dominant 618418
Mendeliome v0.2578 UBAP1 Zornitza Stark Publications for gene: UBAP1 were set to 31203368
Mendeliome v0.2577 UBAP1 Zornitza Stark reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31696996; Phenotypes: Childhood-onset hereditary spastic paraplegia, Spastic paraplegia 80, autosomal dominant 618418; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.10 ECHS1 Eunice Chan gene: ECHS1 was added
gene: ECHS1 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31:1041–8 (PMID: 2709; 0768); Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264:185–7. (PMID: 2803; 9521)
Phenotypes for gene: ECHS1 were set to early onset Leigh syndrome; later onset Leigh-like syndrome; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)
Added comment: PxD phenotype
- intermittent episodes of long-duration dystonia or episodes of dystonia induced by sustained exercise
Sources: Literature
Hereditary Spastic Paraplegia v0.81 UBAP1 Zornitza Stark Marked gene: UBAP1 as ready
Hereditary Spastic Paraplegia v0.81 UBAP1 Zornitza Stark Gene: ubap1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.81 UBAP1 Zornitza Stark Classified gene: UBAP1 as Green List (high evidence)
Hereditary Spastic Paraplegia v0.81 UBAP1 Zornitza Stark Gene: ubap1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.80 UBAP1 Zornitza Stark gene: UBAP1 was added
gene: UBAP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBAP1 were set to 31696996
Phenotypes for gene: UBAP1 were set to Childhood-onset hereditary spastic paraplegia; Spastic paraplegia 80, autosomal dominant 618418
Mode of pathogenicity for gene: UBAP1 was set to Other
Review for gene: UBAP1 was set to GREEN
Added comment: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex.
Sources: Literature
Paroxysmal Dyskinesia v0.10 PNKD Eunice Chan commented on gene: PNKD
Mendeliome v0.2577 RHOA Zornitza Stark Phenotypes for gene: RHOA were changed from normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia; dental anomalies; body asymmetry; limb length discrepancy
Mendeliome v0.2576 RHOA Zornitza Stark Publications for gene: RHOA were set to 31570889
Mendeliome v0.2575 RHOA Zornitza Stark reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31821646; Phenotypes: hypopigmented areas of the skin, dental anomalies, body asymmetry, limb length discrepancy, MRI abnormalities; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.2586 NTNG2 Zornitza Stark edited their review of gene: NTNG2: Changed phenotypes: Intellectual disability, autism, dysmorphic features, Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Intellectual disability syndromic and non-syndromic v0.2586 NTNG2 Zornitza Stark Publications for gene: NTNG2 were set to 31668703
Intellectual disability syndromic and non-syndromic v0.2585 NTNG2 Zornitza Stark edited their review of gene: NTNG2: Added comment: Two more families reported, phenotype described as Rett-like. Both families had same homozygous frameshift mutation (chr9:135073515, c.376dupT, p.(Ser126PhefsTer241).; Changed publications: 31668703, 31692205
Intellectual disability syndromic and non-syndromic v0.2585 TAF1 Zornitza Stark Marked gene: TAF1 as ready
Intellectual disability syndromic and non-syndromic v0.2585 TAF1 Zornitza Stark Gene: taf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2585 TAF1 Zornitza Stark Phenotypes for gene: TAF1 were changed from to Mental retardation, X-linked, syndromic 33, MIM# 300966
Intellectual disability syndromic and non-syndromic v0.2584 TAF1 Zornitza Stark Publications for gene: TAF1 were set to
Intellectual disability syndromic and non-syndromic v0.2583 TAF1 Zornitza Stark Mode of inheritance for gene: TAF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2582 TAF1 Zornitza Stark reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31646703; Phenotypes: Mental retardation, X-linked, syndromic 33, MIM# 300966; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.683 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Genetic Epilepsy v0.683 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.683 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from to Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Febrile seizures, familial, 3A 604403
Genetic Epilepsy v0.682 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.681 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 2 604403, Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208, Febrile seizures, familial, 3A 604403; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2575 IQCE Zornitza Stark Marked gene: IQCE as ready
Mendeliome v0.2575 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Mendeliome v0.2575 IQCE Zornitza Stark Classified gene: IQCE as Green List (high evidence)
Mendeliome v0.2575 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Mendeliome v0.2574 IQCE Zornitza Stark gene: IQCE was added
gene: IQCE was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 31549751; 28488682
Phenotypes for gene: IQCE were set to Postaxial polydactyly
Review for gene: IQCE was set to GREEN
Added comment: Four families reported with bi-allelic variants in this gene. The c.895_904del (p.Val301Serfs*8) was found in three of the families without sharing a common haplotype, suggesting a recurrent mechanism. RNA expression analysis on patients’ fibroblasts showed that the dysfunction of IQCE leads to the dysregulation of genes associated with the hedgehog‐signaling pathway, and zebrafish experiments demonstrated a full spectrum of phenotypes linked to defective cilia: Body curvature, kidney cysts, left–right asymmetry, misdirected cilia in the pronephric duct, and retinal defects.
Sources: Literature
Polydactyly v0.21 IQCE Zornitza Stark Marked gene: IQCE as ready
Polydactyly v0.21 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Polydactyly v0.21 IQCE Zornitza Stark Classified gene: IQCE as Green List (high evidence)
Polydactyly v0.21 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Polydactyly v0.20 IQCE Zornitza Stark gene: IQCE was added
gene: IQCE was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 31549751; 28488682
Phenotypes for gene: IQCE were set to Postaxial polydactyly
Review for gene: IQCE was set to GREEN
Added comment: Four families reported with bi-allelic variants in this gene. The c.895_904del (p.Val301Serfs*8) was found in three of the families without sharing a common haplotype, suggesting a recurrent mechanism. RNA expression analysis on patients’ fibroblasts showed that the dysfunction of IQCE leads to the dysregulation of genes associated with the hedgehog‐signaling pathway, and zebrafish experiments demonstrated a full spectrum of phenotypes linked to defective cilia: Body curvature, kidney cysts, left–right asymmetry, misdirected cilia in the pronephric duct, and retinal defects.
Sources: Literature
Mendeliome v0.2573 NKX2-3 Zornitza Stark Marked gene: NKX2-3 as ready
Mendeliome v0.2573 NKX2-3 Zornitza Stark Gene: nkx2-3 has been classified as Red List (Low Evidence).
Mendeliome v0.2573 NKX2-3 Zornitza Stark gene: NKX2-3 was added
gene: NKX2-3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NKX2-3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-3 were set to 31498527
Phenotypes for gene: NKX2-3 were set to Intestinal varicosities
Review for gene: NKX2-3 was set to RED
Added comment: Single multiplex family where truncating variant in this gene segregated with intestinal varicosities with a LOD score of 3.3. NKX2‐3 is a component of a molecular pathway underlying spleen and gut vasculature development in mice.
Sources: Literature
Mendeliome v0.2572 RPSA Zornitza Stark changed review comment from: Four families reported with mono allelic variants and idiopathic intestinal varies.; to: Four families reported with mono allelic variants and idiopathic intestinal varies, often in combination with asplenia.
Mendeliome v0.2572 RPSA Zornitza Stark Marked gene: RPSA as ready
Mendeliome v0.2572 RPSA Zornitza Stark Gene: rpsa has been classified as Green List (High Evidence).
Mendeliome v0.2572 RPSA Zornitza Stark Phenotypes for gene: RPSA were changed from to Asplenia, isolated congenital 271400; Idiopathic intestinal varices
Mendeliome v0.2571 RPSA Zornitza Stark Publications for gene: RPSA were set to
Mendeliome v0.2570 RPSA Zornitza Stark Mode of inheritance for gene: RPSA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2569 RPSA Zornitza Stark reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23579497, 31498527; Phenotypes: Asplenia, isolated congenital 271400, Idiopathic intestinal varices; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2569 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from to Skeletal dysplasia; spondylocostal dysostosis; congenital scoliosis
Mendeliome v0.2568 TBX6 Zornitza Stark Publications for gene: TBX6 were set to
Mitochondrial disease v0.438 CRAT Zornitza Stark Marked gene: CRAT as ready
Mitochondrial disease v0.438 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.438 CRAT Zornitza Stark Classified gene: CRAT as Amber List (moderate evidence)
Mitochondrial disease v0.438 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.437 CRAT Zornitza Stark gene: CRAT was added
gene: CRAT was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRAT were set to 29395073; 31448845
Phenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Review for gene: CRAT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.
Sources: Literature
Regression v0.116 CRAT Zornitza Stark Marked gene: CRAT as ready
Regression v0.116 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Regression v0.116 CRAT Zornitza Stark Classified gene: CRAT as Amber List (moderate evidence)
Regression v0.116 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Regression v0.115 CRAT Zornitza Stark gene: CRAT was added
gene: CRAT was added to Regression. Sources: Literature
Mode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRAT were set to 29395073; 31448845
Phenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Review for gene: CRAT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.
Sources: Literature
Mendeliome v0.2567 CRAT Zornitza Stark Marked gene: CRAT as ready
Mendeliome v0.2567 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2567 CRAT Zornitza Stark Classified gene: CRAT as Amber List (moderate evidence)
Mendeliome v0.2567 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2566 CRAT Zornitza Stark gene: CRAT was added
gene: CRAT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRAT were set to 29395073; 31448845
Phenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Review for gene: CRAT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.
Sources: Literature
Genetic Epilepsy v0.681 KCNB1 Zornitza Stark Marked gene: KCNB1 as ready
Genetic Epilepsy v0.681 KCNB1 Zornitza Stark Gene: kcnb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.681 KCNB1 Zornitza Stark Phenotypes for gene: KCNB1 were changed from to Epileptic encephalopathy, early infantile, 26, MIM# 616056
Genetic Epilepsy v0.680 KCNB1 Zornitza Stark Publications for gene: KCNB1 were set to
Genetic Epilepsy v0.679 KCNB1 Zornitza Stark Mode of inheritance for gene: KCNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.678 KCNB1 Zornitza Stark reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600826, 31513310; Phenotypes: Epileptic encephalopathy, early infantile, 26, MIM# 616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2582 KCNB1 Zornitza Stark Marked gene: KCNB1 as ready
Intellectual disability syndromic and non-syndromic v0.2582 KCNB1 Zornitza Stark Gene: kcnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2582 KCNB1 Zornitza Stark Phenotypes for gene: KCNB1 were changed from to Epileptic encephalopathy, early infantile, 26, MIM# 616056
Intellectual disability syndromic and non-syndromic v0.2581 KCNB1 Zornitza Stark Publications for gene: KCNB1 were set to
Intellectual disability syndromic and non-syndromic v0.2580 KCNB1 Zornitza Stark Mode of inheritance for gene: KCNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2579 KCNB1 Zornitza Stark reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600826, 31513310; Phenotypes: Epileptic encephalopathy, early infantile, 26, MIM# 616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.105 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Optic Atrophy v0.104 KLC2 Bryony Thompson Marked gene: KLC2 as ready
Optic Atrophy v0.104 KLC2 Bryony Thompson Gene: klc2 has been classified as Green List (High Evidence).
Optic Atrophy v0.104 KLC2 Bryony Thompson Classified gene: KLC2 as Green List (high evidence)
Optic Atrophy v0.104 KLC2 Bryony Thompson Added comment: Comment on list classification: Only reported cause of condition is the upstream large deletion, which is not detected by whole-exome sequencing.
Optic Atrophy v0.104 KLC2 Bryony Thompson Gene: klc2 has been classified as Green List (High Evidence).
Optic Atrophy v0.103 KLC2 Bryony Thompson gene: KLC2 was added
gene: KLC2 was added to Optic Atrophy. Sources: Literature
SV/CNV tags were added to gene: KLC2.
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Review for gene: KLC2 was set to GREEN
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Optic atrophy is a feature of the condition.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.53 BCL11A Zornitza Stark Marked gene: BCL11A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.53 BCL11A Zornitza Stark Gene: bcl11a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.53 BCL11A Zornitza Stark Phenotypes for gene: BCL11A were changed from to Dias-Logan syndrome, MIM# 617101
Cerebellar and Pontocerebellar Hypoplasia v0.52 BCL11A Zornitza Stark Publications for gene: BCL11A were set to
Cerebellar and Pontocerebellar Hypoplasia v0.51 BCL11A Zornitza Stark Mode of inheritance for gene: BCL11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Marked gene: TUBB as ready
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Gene: tubb has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Classified gene: TUBB as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.50 TUBB Zornitza Stark Gene: tubb has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Classified gene: CACNA1G as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.49 CACNA1G Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.48 TRAPPC6B Zornitza Stark Marked gene: TRAPPC6B as ready
Cerebellar and Pontocerebellar Hypoplasia v0.48 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.48 TRAPPC6B Zornitza Stark Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862)
Cerebellar and Pontocerebellar Hypoplasia v0.47 TRAPPC6B Zornitza Stark Publications for gene: TRAPPC6B were set to
Cerebellar and Pontocerebellar Hypoplasia v0.46 TRAPPC6B Zornitza Stark Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.45 TRAPPC6B Zornitza Stark Classified gene: TRAPPC6B as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.45 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.44 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.44 CEP55 Zornitza Stark Gene: cep55 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.44 CEP55 Zornitza Stark Phenotypes for gene: CEP55 were changed from to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500
Cerebellar and Pontocerebellar Hypoplasia v0.43 CEP55 Zornitza Stark Publications for gene: CEP55 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.42 CEP55 Zornitza Stark Mode of inheritance for gene: CEP55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.41 CEP55 Zornitza Stark Classified gene: CEP55 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.41 CEP55 Zornitza Stark Gene: cep55 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Marked gene: TMEM5 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Classified gene: TMEM5 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.40 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Classified gene: TINF2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.39 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Mendeliome v0.2565 CWF19L1 Zornitza Stark Marked gene: CWF19L1 as ready
Mendeliome v0.2565 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Mendeliome v0.2565 CWF19L1 Zornitza Stark Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, MIM#616127; intellectual disability, developmental delay
Mendeliome v0.2564 CWF19L1 Zornitza Stark Publications for gene: CWF19L1 were set to
Mendeliome v0.2563 CWF19L1 Zornitza Stark Mode of inheritance for gene: CWF19L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2562 CWF19L1 Zornitza Stark reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361784, 15981765, 26197978, 27016154, 30167849; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, MIM#616127, intellectual disability, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Marked gene: CWF19L1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Classified gene: CWF19L1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.38 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.41 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Polymicrogyria and Schizencephaly v0.41 AHI1 Zornitza Stark Gene: ahi1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.41 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM# 608629
Polymicrogyria and Schizencephaly v0.40 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Polymicrogyria and Schizencephaly v0.39 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.38 AHI1 Zornitza Stark Classified gene: AHI1 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.38 AHI1 Zornitza Stark Gene: ahi1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.37 ASTN1 Zornitza Stark Marked gene: ASTN1 as ready
Polymicrogyria and Schizencephaly v0.37 ASTN1 Zornitza Stark Gene: astn1 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.37 ASTN1 Zornitza Stark Phenotypes for gene: ASTN1 were changed from to Polymicrogyria; hypoplastic corpus callosum
Polymicrogyria and Schizencephaly v0.36 ASTN1 Zornitza Stark Publications for gene: ASTN1 were set to
Polymicrogyria and Schizencephaly v0.35 ASTN1 Zornitza Stark Mode of inheritance for gene: ASTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.34 ASTN1 Zornitza Stark Classified gene: ASTN1 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.34 ASTN1 Zornitza Stark Gene: astn1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.11 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.11 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families reported and two animal models.
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN; Changed publications: 23359570, 23877401, 23359570, 23217742
Mendeliome v0.2562 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Mendeliome v0.2562 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Mendeliome v0.2561 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families reported and two animal models.
Mendeliome v0.2561 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN; Changed publications: 23359570, 23877401, 23359570, 23217742
Callosome v0.134 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN
Callosome v0.134 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families reported and two animal models.
Callosome v0.134 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401; 23359570; 23217742
Arthrogryposis v0.46 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401
Arthrogryposis v0.45 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Arthrogryposis v0.45 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Arthrogryposis v0.44 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families and two animal models.
Callosome v0.133 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401; 23359570; 23217742
Arthrogryposis v0.44 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN; Changed publications: 23359570, 23877401, 23359570, 23217742
Callosome v0.132 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Callosome v0.132 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Callosome v0.132 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.34 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.33 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359570, 23877401, 23359570, 23217742; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.131 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Callosome v0.131 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Callosome v0.131 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Callosome v0.130 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Callosome v0.129 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.128 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Callosome v0.128 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Callosome v0.127 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.10 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Arthrogryposis v0.44 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Arthrogryposis v0.44 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.9 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Muscular dystrophy and myopathy_Paediatric v0.8 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.7 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.7 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.44 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Muscular dystrophy and myopathy_Paediatric v0.6 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2561 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Mendeliome v0.2561 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2561 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Mendeliome v0.2560 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Mendeliome v0.2559 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2558 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Mendeliome v0.2558 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2557 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.43 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Arthrogryposis v0.42 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.41 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Arthrogryposis v0.41 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.40 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.33 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Lissencephaly and Band Heterotopia v0.32 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Lissencephaly and Band Heterotopia v0.31 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.30 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v0.30 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.7 BRAF Zornitza Stark Marked gene: BRAF as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.7 BRAF Zornitza Stark Gene: braf has been classified as Amber List (Moderate Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.7 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from to RASopathies; Focal cortical dysplasia
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.6 BRAF Zornitza Stark Publications for gene: BRAF were set to
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.5 BRAF Zornitza Stark Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.4 BRAF Zornitza Stark Classified gene: BRAF as Amber List (moderate evidence)
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.4 BRAF Zornitza Stark Gene: braf has been classified as Amber List (Moderate Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.3 BRAF Zornitza Stark Tag somatic tag was added to gene: BRAF.
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.3 BRAF Zornitza Stark reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: None; Publications: 25356392; Phenotypes: Focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2557 RSRC1 Zornitza Stark Classified gene: RSRC1 as Green List (high evidence)
Mendeliome v0.2557 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.3 BRAF Lauren Akesson reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18039946, 18039235; Phenotypes: RASopathies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2556 THG1L Zornitza Stark changed review comment from: Five individuals from two Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA.
Sources: Literature; to: Four Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA. A carrier rate of 0.8%, but no THG1L V55A homozygotes, was found in a cohort of 3,232 unrelated Ashkenazi Jewish individuals, and no homozygotes found in Exac or gnomAD.
Sources: Literature
Mendeliome v0.2556 THG1L Zornitza Stark edited their review of gene: THG1L: Changed rating: GREEN; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800
Mendeliome v0.2556 THG1L Zornitza Stark Marked gene: THG1L as ready
Mendeliome v0.2556 THG1L Zornitza Stark Gene: thg1l has been classified as Green List (High Evidence).
Mendeliome v0.2556 THG1L Zornitza Stark Classified gene: THG1L as Green List (high evidence)
Mendeliome v0.2556 THG1L Zornitza Stark Gene: thg1l has been classified as Green List (High Evidence).
Mendeliome v0.2555 THG1L Zornitza Stark Classified gene: THG1L as Amber List (moderate evidence)
Mendeliome v0.2555 THG1L Zornitza Stark Gene: thg1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2554 THG1L Zornitza Stark gene: THG1L was added
gene: THG1L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THG1L were set to 27307223; 31168944; 30214071
Phenotypes for gene: THG1L were set to Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800
Review for gene: THG1L was set to AMBER
Added comment: Five individuals from two Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA.
Sources: Literature
Mendeliome v0.2553 TRPV1 Zornitza Stark Marked gene: TRPV1 as ready
Mendeliome v0.2553 TRPV1 Zornitza Stark Gene: trpv1 has been classified as Red List (Low Evidence).
Mendeliome v0.2553 TRPV1 Zornitza Stark gene: TRPV1 was added
gene: TRPV1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRPV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV1 were set to 29930394
Phenotypes for gene: TRPV1 were set to Susceptibility to malignant hyperthermia
Review for gene: TRPV1 was set to RED
Added comment: Two individuals reported with rare/novel missense variants in this gene, some functional data.
Sources: Literature
Mendeliome v0.2552 ZP2 Zornitza Stark Marked gene: ZP2 as ready
Mendeliome v0.2552 ZP2 Zornitza Stark Gene: zp2 has been classified as Green List (High Evidence).
Mendeliome v0.2552 ZP2 Zornitza Stark Classified gene: ZP2 as Green List (high evidence)
Mendeliome v0.2552 ZP2 Zornitza Stark Gene: zp2 has been classified as Green List (High Evidence).
Mendeliome v0.2551 ZP2 Zornitza Stark gene: ZP2 was added
gene: ZP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZP2 were set to 30810869; 29895852
Phenotypes for gene: ZP2 were set to Female infertility
Review for gene: ZP2 was set to GREEN
Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida.
Sources: Literature
Mendeliome v0.2550 RSRC1 Zornitza Stark edited their review of gene: RSRC1: Added comment: 17 additional individuals reported.; Changed rating: GREEN; Changed publications: 28640246, 29522154, 32227164; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Intellectual disability syndromic and non-syndromic v0.2579 RSRC1 Zornitza Stark Classified gene: RSRC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2579 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2578 RSRC1 Zornitza Stark edited their review of gene: RSRC1: Added comment: 2020: 17 additional individuals reported.; Changed rating: GREEN; Changed publications: 28640246, 29522154, 32227164; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Marked gene: GAD1 as ready
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Genetic Epilepsy v0.678 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Mendeliome v0.2550 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Mendeliome v0.2550 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.677 GAD1 Zornitza Stark gene: GAD1 was added
gene: GAD1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAD1 were set to 32282878
Phenotypes for gene: GAD1 were set to Developmental and epileptic encephalopathy
Review for gene: GAD1 was set to GREEN
Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.
Sources: Literature
Mendeliome v0.2549 GAD1 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.; to: Single family reported with bi-allelic variants and CP phenotype. Association studies linking with neuropsychiatric issues.
Mendeliome v0.2549 GAD1 Zornitza Stark edited their review of gene: GAD1: Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.; Changed rating: GREEN; Changed publications: 15571623, 32282878; Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy
Intellectual disability syndromic and non-syndromic v0.2578 GAD1 Zornitza Stark Publications for gene: GAD1 were set to 15571623
Intellectual disability syndromic and non-syndromic v0.2577 GAD1 Zornitza Stark Phenotypes for gene: GAD1 were changed from Cerebral palsy, spastic quadriplegic, 1, MIM#603513 to Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Developmental and epileptic encephalopathy
Intellectual disability syndromic and non-syndromic v0.2576 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2576 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.; to: Single family reported with bi-allelic variants and CP phenotype. Association studies linking with neuropsychiatric issues.
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark edited their review of gene: GAD1: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.2575 GAD1 Zornitza Stark edited their review of gene: GAD1: Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.; Changed publications: 15571623, 32282878; Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Genetic Epilepsy v0.676 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2575 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.675 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2574 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Congenital Disorders of Glycosylation v0.43 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Mendeliome v0.2549 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Mendeliome v0.2549 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2573 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Intellectual disability syndromic and non-syndromic v0.2573 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Mendeliome v0.2548 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Early-onset Dementia v0.48 CYLD Zornitza Stark Marked gene: CYLD as ready
Early-onset Dementia v0.48 CYLD Zornitza Stark Gene: cyld has been classified as Red List (Low Evidence).
Early-onset Dementia v0.48 CYLD Zornitza Stark gene: CYLD was added
gene: CYLD was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYLD were set to 32185393
Phenotypes for gene: CYLD were set to Frontotemporal dementia; Amyotrophic lateral sclerosis
Review for gene: CYLD was set to RED
Added comment: Recent report of a missense variant segregating in 1 family with frontotemporal dementia and amyotrophic lateral sclerosis. Functional studies showed that the variant resulted in a gain of ubiquitinase function, opposite from the mechanism causing the well-documented cutaneous phenotypes
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2573 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290
Microcephaly v0.118 C7orf43 Zornitza Stark Marked gene: C7orf43 as ready
Microcephaly v0.118 C7orf43 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: MAP11
Microcephaly v0.118 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.118 C7orf43 Zornitza Stark Classified gene: C7orf43 as Amber List (moderate evidence)
Microcephaly v0.118 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2547 C7orf43 Zornitza Stark Marked gene: C7orf43 as ready
Mendeliome v0.2547 C7orf43 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: MAP11
Mendeliome v0.2547 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.117 C7orf43 Zornitza Stark gene: C7orf43 was added
gene: C7orf43 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C7orf43 were set to 30715179
Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351
Review for gene: C7orf43 was set to AMBER
Added comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model.
Sources: Literature
Mendeliome v0.2547 C7orf43 Zornitza Stark Classified gene: C7orf43 as Amber List (moderate evidence)
Mendeliome v0.2547 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2546 C7orf43 Zornitza Stark gene: C7orf43 was added
gene: C7orf43 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C7orf43 were set to 30715179
Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351
Review for gene: C7orf43 was set to AMBER
Added comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2572 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Intellectual disability syndromic and non-syndromic v0.2571 PLPBP Zornitza Stark Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2545 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from Epilepsy, early-onset, vitamin B6-dependent, 617290 to Epilepsy, early-onset, vitamin B6-dependent, MIM#617290
Mendeliome v0.2544 PLPBP Zornitza Stark Publications for gene: PLPBP were set to 29689137; 27912044
Mendeliome v0.2543 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2570 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.674 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Genetic Epilepsy v0.674 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.674 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290
Genetic Epilepsy v0.673 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Genetic Epilepsy v0.672 PLPBP Zornitza Stark Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.671 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.671 GRIN2A Zornitza Stark Marked gene: GRIN2A as ready
Genetic Epilepsy v0.671 GRIN2A Zornitza Stark Gene: grin2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.671 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Genetic Epilepsy v0.670 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Genetic Epilepsy v0.669 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Mendeliome v0.2543 GRIN2A Zornitza Stark Marked gene: GRIN2A as ready
Mendeliome v0.2543 GRIN2A Zornitza Stark Gene: grin2a has been classified as Green List (High Evidence).
Mendeliome v0.2543 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Mendeliome v0.2542 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Mendeliome v0.2541 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Genetic Epilepsy v0.668 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2540 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.668 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.667 GRIN2A Zornitza Stark reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2539 GRIN2A Zornitza Stark reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2570 GRIN2A Zornitza Stark Marked gene: GRIN2A as ready
Intellectual disability syndromic and non-syndromic v0.2570 GRIN2A Zornitza Stark Gene: grin2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2570 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Intellectual disability syndromic and non-syndromic v0.2569 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Intellectual disability syndromic and non-syndromic v0.2568 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2567 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2566 GRIN2A Zornitza Stark reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.114 NAXD Zornitza Stark Marked gene: NAXD as ready
Regression v0.114 NAXD Zornitza Stark Gene: naxd has been classified as Green List (High Evidence).
Regression v0.114 NAXD Zornitza Stark Phenotypes for gene: NAXD were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Regression v0.113 NAXD Zornitza Stark Publications for gene: NAXD were set to
Regression v0.112 NAXD Zornitza Stark Mode of inheritance for gene: NAXD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.111 NAXD Zornitza Stark reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30576410; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.111 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Regression v0.111 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Regression v0.111 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Intellectual disability syndromic and non-syndromic v0.2566 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Intellectual disability syndromic and non-syndromic v0.2566 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2566 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Regression v0.110 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Intellectual disability syndromic and non-syndromic v0.2565 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Regression v0.109 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2564 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.108 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Regression v0.108 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2563 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.2563 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2562 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.107 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.127 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Callosome v0.127 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Callosome v0.127 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Callosome v0.126 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Callosome v0.125 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.124 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Callosome v0.124 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Callosome v0.123 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.116 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Microcephaly v0.116 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Microcephaly v0.116 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Microcephaly v0.115 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Microcephaly v0.114 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.113 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Microcephaly v0.113 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Microcephaly v0.112 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.37 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Cerebellar and Pontocerebellar Hypoplasia v0.36 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.35 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.34 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.34 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.33 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2539 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Mendeliome v0.2539 TSEN34 Zornitza Stark Added comment: Comment when marking as ready: Reviewed ClinVar: all variants submitted are VOUS or LB, except for one LP, but no further details provided.
Mendeliome v0.2539 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Mendeliome v0.2539 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Mendeliome v0.2538 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2537 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Mendeliome v0.2536 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Mendeliome v0.2536 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson changed review comment from: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient evidence to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.
Mendeliome v0.2535 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson changed review comment from: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected siblings from a consanguineous family (two arms). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual was tested with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient information to be green:

PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested.

PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.
Lissencephaly and Band Heterotopia v0.29 B4GAT1 Lauren Akesson reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: None
Mendeliome v0.2535 TSEN34 Zornitza Stark Deleted their review
Mendeliome v0.2535 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Mendeliome v0.2535 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence).
Mendeliome v0.2535 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A 277470; Pontocerebellar hypoplasia type 4 225753; Ataxia
Mendeliome v0.2534 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
Mendeliome v0.2533 TSEN54 Zornitza Stark Mode of inheritance for gene: TSEN54 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2532 TSEN54 Zornitza Stark reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2A 277470, Pontocerebellar hypoplasia type 4 225753, Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2532 TSEN54 Zornitza Stark Deleted their review
Mendeliome v0.2532 TSEN54 Zornitza Stark Deleted their comment
Mendeliome v0.2532 Zornitza Stark removed gene:FUS from the panel
Mendeliome v0.2531 Zornitza Stark removed gene:C9orf72 from the panel
Mendeliome v0.2530 TMPRSS9 Zornitza Stark Marked gene: TMPRSS9 as ready
Mendeliome v0.2530 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Mendeliome v0.2530 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Mendeliome v0.2530 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.667 GABRB2 Zornitza Stark Marked gene: GABRB2 as ready
Genetic Epilepsy v0.667 GABRB2 Zornitza Stark Gene: gabrb2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.667 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829
Genetic Epilepsy v0.666 GABRB2 Zornitza Stark Publications for gene: GABRB2 were set to
Genetic Epilepsy v0.665 GABRB2 Zornitza Stark Mode of inheritance for gene: GABRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.664 GABRB2 Zornitza Stark reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27789573, 29100083; Phenotypes: Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2530 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829 to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829
Mendeliome v0.2529 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829
Mendeliome v0.2528 GABRB2 Zornitza Stark Mode of pathogenicity for gene: GABRB2 was changed from to Other
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Mendeliome v0.2527 GABRB2 Zornitza Stark Mode of inheritance for gene: GABRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.29 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019
Lissencephaly and Band Heterotopia v0.28 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Lissencephaly and Band Heterotopia v0.27 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.26 NDE1 Zornitza Stark reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30637988; Phenotypes: Microhydranencephaly 605013, Lissencephaly 4 (with microcephaly) 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.33 ASTN1 Lauren Akesson reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 29706646; Phenotypes: Polymicrogyria, hypoplastic corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2526 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Mendeliome v0.2526 NDE1 Zornitza Stark Added comment: Comment when marking as ready: The two OMIM phenotypes likely represent a spectrum of brain abnormalities associated with this gene.
Mendeliome v0.2526 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Mendeliome v0.2526 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019
Mendeliome v0.2525 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Mendeliome v0.2524 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2523 CDC45 Zornitza Stark Marked gene: CDC45 as ready
Mendeliome v0.2523 CDC45 Zornitza Stark Gene: cdc45 has been classified as Green List (High Evidence).
Mendeliome v0.2523 CDC45 Zornitza Stark Phenotypes for gene: CDC45 were changed from to Meier-Gorlin syndrome 7, MIM 617063
Mendeliome v0.2522 CDC45 Zornitza Stark Publications for gene: CDC45 were set to
Mendeliome v0.2521 CDC45 Zornitza Stark Mode of inheritance for gene: CDC45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2520 CPSF1 Zornitza Stark Phenotypes for gene: CPSF1 were changed from Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia to Myopia 27, 618827; high myopia; early-onset high myopia
Mendeliome v0.2519 CPSF1 Zornitza Stark Marked gene: CPSF1 as ready
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Mendeliome v0.2519 CPSF1 Zornitza Stark Classified gene: CPSF1 as Green List (high evidence)
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Marked gene: ADAMTS19 as ready
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Classified gene: ADAMTS19 as Amber List (moderate evidence)
Congenital Heart Defect v0.29 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.28 ADAMTS19 Zornitza Stark gene: ADAMTS19 was added
gene: ADAMTS19 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 31844321
Phenotypes for gene: ADAMTS19 were set to Non-syndromic heart valve disease
Review for gene: ADAMTS19 was set to AMBER
Added comment: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2562 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM 617159
Intellectual disability syndromic and non-syndromic v0.2561 CHD4 Zornitza Stark Publications for gene: CHD4 were set to 31388190
Intellectual disability syndromic and non-syndromic v0.2560 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Intellectual disability syndromic and non-syndromic v0.2559 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2518 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Mendeliome v0.2518 CHD4 Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2558 CHD4 Zornitza Stark reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388190; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2518 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM 617159
Mendeliome v0.2517 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Mendeliome v0.2516 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.83 RASA1 Zornitza Stark Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation 608354 to Capillary malformation-arteriovenous malformation, MIM# 608354
Vascular Malformations_Germline v0.82 RASA1 Zornitza Stark Publications for gene: RASA1 were set to
Vascular Malformations_Germline v0.81 RASA1 Zornitza Stark reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14639529, 29891884, 24038909, 31300548; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2515 RASA1 Zornitza Stark Phenotypes for gene: RASA1 were changed from to Capillary malformation-arteriovenous malformation 1, MIM#608354
Mendeliome v0.2514 RASA1 Zornitza Stark Publications for gene: RASA1 were set to
Mendeliome v0.2513 RASA1 Zornitza Stark Mode of inheritance for gene: RASA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2512 CFAP69 Zornitza Stark Marked gene: CFAP69 as ready
Mendeliome v0.2512 CFAP69 Zornitza Stark Gene: cfap69 has been classified as Green List (High Evidence).
Mendeliome v0.2512 CFAP69 Zornitza Stark Phenotypes for gene: CFAP69 were changed from to Asthenoteratospermia (Impaired sperm motility; severe flagellar abnormalities (short, coiled, absent or irregular calibre))
Mendeliome v0.2511 CFAP69 Zornitza Stark Publications for gene: CFAP69 were set to
Mendeliome v0.2510 CFAP69 Zornitza Stark Mode of inheritance for gene: CFAP69 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.9 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Macular Dystrophy/Stargardt Disease v0.8 ABCA4 Zornitza Stark reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.19 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Retinitis pigmentosa v0.19 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.19 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Retinitis pigmentosa v0.18 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Retinitis pigmentosa v0.18 ABCA4 Zornitza Stark reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2509 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Mendeliome v0.2509 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Mendeliome v0.2509 ABCA4 Zornitza Stark Phenotypes for gene: ABCA4 were changed from to Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200
Mendeliome v0.2508 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Mendeliome v0.2507 ABCA4 Zornitza Stark Mode of inheritance for gene: ABCA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2506 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Intellectual disability syndromic and non-syndromic v0.2558 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Intellectual disability syndromic and non-syndromic v0.2558 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2558 TLK2 Zornitza Stark Phenotypes for gene: TLK2 were changed from to Intellectual disability, MIM 618050; Neurodevelopmental disease
Intellectual disability syndromic and non-syndromic v0.2557 TLK2 Zornitza Stark Publications for gene: TLK2 were set to
Intellectual disability syndromic and non-syndromic v0.2556 TLK2 Zornitza Stark Mode of inheritance for gene: TLK2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2555 TLK2 Zornitza Stark reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861108, 29942082, 27479843, 23911319, 30559488, 29942082, 31558842; Phenotypes: Intellectual disability, MIM 618050, Neurodevelopmental disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2506 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Mendeliome v0.2506 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Mendeliome v0.2506 TLK2 Zornitza Stark Phenotypes for gene: TLK2 were changed from to Intellectual disability, MIM 618050; Neurodevelopmental disease
Mendeliome v0.2505 TLK2 Zornitza Stark Publications for gene: TLK2 were set to
Mendeliome v0.2504 TLK2 Zornitza Stark Mode of inheritance for gene: TLK2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.65 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.65 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.65 DYRK1A Zornitza Stark Classified gene: DYRK1A as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.65 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.64 DYRK1A Zornitza Stark gene: DYRK1A was added
gene: DYRK1A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYRK1A were set to 25707398; 31263215
Phenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7 (MIM#614104)
Review for gene: DYRK1A was set to GREEN
Added comment: Review of 15 patients with pathogenic DYRK1A variants revealed 11 of whom presented with CAKUT/genital defects. Studies in Xenopus embryos supported findings (Blackburn 2019; PMID: 31263215)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2555 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Intellectual disability syndromic and non-syndromic v0.2555 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2555 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7 (MIM#614104)
Intellectual disability syndromic and non-syndromic v0.2554 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Intellectual disability syndromic and non-syndromic v0.2553 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2552 DYRK1A Zornitza Stark Deleted their review
Intellectual disability syndromic and non-syndromic v0.2552 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 31263215; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2503 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Mendeliome v0.2503 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Mendeliome v0.2503 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7 (MIM#614104)
Polymicrogyria and Schizencephaly v0.33 AHI1 Lauren Akesson reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15467982; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2502 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Mendeliome v0.2501 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2500 WARS Zornitza Stark Marked gene: WARS as ready
Mendeliome v0.2500 WARS Zornitza Stark Gene: wars has been classified as Green List (High Evidence).
Mendeliome v0.2500 WARS Zornitza Stark Classified gene: WARS as Green List (high evidence)
Mendeliome v0.2500 WARS Zornitza Stark Gene: wars has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Skeletal dysplasia v0.19 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.18 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Pierre Robin Sequence v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.2 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Pierre Robin Sequence. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Mandibulofacial Acrofacial dysostosis v0.3 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v0.2 POLR1B Zornitza Stark gene: POLR1B was added
gene: POLR1B was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4
Review for gene: POLR1B was set to GREEN
Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Mendeliome v0.2499 POLR1B Zornitza Stark Phenotypes for gene: POLR1B were changed from Treacher-Collins syndrome to Treacher-Collins syndrome type 4
Mendeliome v0.2498 POLR1B Zornitza Stark Marked gene: POLR1B as ready
Mendeliome v0.2498 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mendeliome v0.2498 POLR1B Zornitza Stark Phenotypes for gene: POLR1B were changed from bilateral malar and mandibular hypoplasia; microtia; coloboma; downslanting palpebral fissures; conductive deafness; cleft palate; heart malformations to Treacher-Collins syndrome
Mendeliome v0.2497 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Mendeliome v0.2497 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mendeliome v0.2496 POLR1B Zornitza Stark changed review comment from: Five unrelated families and a zebrafish model.; to: Five unrelated families and a zebrafish model. Note four of the families had missense variants affecting same residue, p.Arg1003
Mendeliome v0.2496 POLR1B Zornitza Stark changed review comment from: Six unrelated families and a zebrafish model.; to: Five unrelated families and a zebrafish model.
Mendeliome v0.2496 POLR1B Zornitza Stark reviewed gene: POLR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31649276; Phenotypes: Treacher-Collins syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2496 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Mendeliome v0.2496 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Green List (High Evidence).
Mendeliome v0.2496 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from to Schneckenbecken dysplasia, MIM 269250
Mendeliome v0.2495 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to
Mendeliome v0.2494 SLC35D1 Zornitza Stark Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2493 C1orf194 Zornitza Stark Marked gene: C1orf194 as ready
Mendeliome v0.2493 C1orf194 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families with missense variants, one with intermediate CMT, the other with demyelinating CMT. Different phenotypic manifestations may relate to different mechanism, but this remains to be fully elucidated. Supportive mouse model.
Mendeliome v0.2493 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2493 C1orf194 Zornitza Stark Mode of pathogenicity for gene: C1orf194 was changed from None to Other
Mendeliome v0.2492 C1orf194 Zornitza Stark Classified gene: C1orf194 as Amber List (moderate evidence)
Mendeliome v0.2492 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2491 REC114 Zornitza Stark Marked gene: REC114 as ready
Mendeliome v0.2491 REC114 Zornitza Stark Gene: rec114 has been classified as Green List (High Evidence).
Mendeliome v0.2491 REC114 Zornitza Stark Classified gene: REC114 as Green List (high evidence)
Mendeliome v0.2491 REC114 Zornitza Stark Gene: rec114 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Marked gene: UBA2 as ready
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Classified gene: UBA2 as Amber List (moderate evidence)
Skeletal dysplasia v0.17 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.16 UBA2 Zornitza Stark gene: UBA2 was added
gene: UBA2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBA2 were set to 31332306; 31587267
Phenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Review for gene: UBA2 was set to AMBER
Added comment: PMID: 31332306 - a single individual with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in individuals with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC.
Sources: Literature
Mendeliome v0.2490 UBA2 Zornitza Stark Marked gene: UBA2 as ready
Mendeliome v0.2490 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2490 UBA2 Zornitza Stark Classified gene: UBA2 as Amber List (moderate evidence)
Mendeliome v0.2490 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.40 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Arthrogryposis v0.40 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Arthrogryposis v0.40 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Myopathy, tubular aggregate, 1 160565; Stormorken syndrome 185070
Arthrogryposis v0.39 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Arthrogryposis v0.38 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.37 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332920, 31448844; Phenotypes: Myopathy, tubular aggregate, 1 160565, Stormorken syndrome 185070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.158 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Immunodeficiency 10, MIM# 612783
Combined Immunodeficiency v0.157 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Combined Immunodeficiency v0.156 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.155 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 10, MIM# 612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2489 NDE1 Elena Savva reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30637988; Phenotypes: ?Microhydranencephaly 605013, Lissencephaly 4 (with microcephaly) 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2489 GABRB2 Elena Savva reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27789573, 29100083; Phenotypes: Epileptic encephalopathy, infantile or early childhood, 2 617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2489 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Mendeliome v0.2489 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Mendeliome v0.2489 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Immunodeficiency 10 612783; Myopathy, tubular aggregate, 1 160565; Stormorken syndrome 185070
Mendeliome v0.2488 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Mendeliome v0.2487 STIM1 Zornitza Stark Mode of pathogenicity for gene: STIM1 was changed from to Other
Mendeliome v0.2486 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.155 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from to Immunodeficiency 9, MIM# 612782
Combined Immunodeficiency v0.154 ORAI1 Zornitza Stark Publications for gene: ORAI1 were set to
Combined Immunodeficiency v0.153 ORAI1 Zornitza Stark Mode of inheritance for gene: ORAI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.152 ORAI1 Zornitza Stark reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844; Phenotypes: Immunodeficiency 9, MIM# 612782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2485 MDM2 Belinda Chong reviewed gene: MDM2: Rating: RED; Mode of pathogenicity: None; Publications: 28846075; Phenotypes: ?Lessel-Kubisch syndrome 618681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2485 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Mendeliome v0.2485 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Mendeliome v0.2485 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from to Immunodeficiency 9, MIM# 612782; Myopathy, tubular aggregate, 2, MIM# 615883
Mendeliome v0.2484 ORAI1 Zornitza Stark Publications for gene: ORAI1 were set to
Mendeliome v0.2483 ORAI1 Zornitza Stark Mode of pathogenicity for gene: ORAI1 was changed from to Other
Mendeliome v0.2482 ORAI1 Zornitza Stark Mode of inheritance for gene: ORAI1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2481 RTTN Zornitza Stark Marked gene: RTTN as ready
Mendeliome v0.2481 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Mendeliome v0.2481 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from to Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Intellectual disability; cerebral polymicrogyria; primary microcephaly; growth defects; congenital anomalies
Mendeliome v0.2480 RTTN Zornitza Stark Publications for gene: RTTN were set to
Mendeliome v0.2479 RTTN Zornitza Stark Mode of inheritance for gene: RTTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2478 UBAP1 Zornitza Stark Marked gene: UBAP1 as ready
Mendeliome v0.2478 UBAP1 Zornitza Stark Gene: ubap1 has been classified as Green List (High Evidence).
Mendeliome v0.2478 UBAP1 Zornitza Stark Phenotypes for gene: UBAP1 were changed from to Spastic paraplegia 80, autosomal dominant 618418
Mendeliome v0.2477 UBAP1 Zornitza Stark Publications for gene: UBAP1 were set to
Mendeliome v0.2476 UBAP1 Zornitza Stark Mode of inheritance for gene: UBAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Classified gene: SLC6A6 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.34 SLC6A6 Zornitza Stark gene: SLC6A6 was added
gene: SLC6A6 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy
Review for gene: SLC6A6 was set to AMBER
Added comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486) One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034).
Sources: Literature
Mendeliome v0.2475 SLC6A6 Zornitza Stark Classified gene: SLC6A6 as Amber List (moderate evidence)
Mendeliome v0.2475 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2474 MRPS14 Zornitza Stark Phenotypes for gene: MRPS14 were changed from Combined oxidative phosphorylation deficiency 38, MIM# 618378 to Combined oxidative phosphorylation deficiency 38, MIM# 618378; perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability
Autism v0.86 TMPRSS9 Zornitza Stark Marked gene: TMPRSS9 as ready
Autism v0.86 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Autism v0.86 TMPRSS9 Zornitza Stark gene: TMPRSS9 was added
gene: TMPRSS9 was added to Autism. Sources: Literature
Mode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS9 were set to 31943016
Phenotypes for gene: TMPRSS9 were set to autism spectrum disorder
Review for gene: TMPRSS9 was set to RED
Added comment: Single individual reported.
Sources: Literature
Optic Atrophy v0.102 MCAT Zornitza Stark Marked gene: MCAT as ready
Optic Atrophy v0.102 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Mendeliome v0.2473 TMPRSS9 Zornitza Stark Classified gene: TMPRSS9 as Red List (low evidence)
Mendeliome v0.2473 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Mendeliome v0.2472 MCAT Zornitza Stark Marked gene: MCAT as ready
Mendeliome v0.2472 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Optic Atrophy v0.102 MCAT Zornitza Stark gene: MCAT was added
gene: MCAT was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCAT were set to 31915829
Phenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy
Review for gene: MCAT was set to RED
Added comment: Single family reported.
Sources: Literature
Mendeliome v0.2472 MCAT Zornitza Stark Classified gene: MCAT as Red List (low evidence)
Mendeliome v0.2472 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.664 SCN8A Zornitza Stark Publications for gene: SCN8A were set to 31625145; 30842224
Genetic Epilepsy v0.663 SCN8A Zornitza Stark Publications for gene: SCN8A were set to 31625145
Mendeliome v0.2471 ABCC1 Zornitza Stark Marked gene: ABCC1 as ready
Mendeliome v0.2471 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2471 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Mendeliome v0.2471 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2470 ABCC1 Zornitza Stark gene: ABCC1 was added
gene: ABCC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCC1 were set to 31273342
Phenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss
Review for gene: ABCC1 was set to AMBER
Added comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected) PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD. Amber rating in light of gnomad frequency of one of the reported variants.
Sources: Literature
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Marked gene: ABCC1 as ready
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Added comment: Comment when marking as ready: Keep as Amber for now in light of gnomad data about one of the variants.
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.341 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.340 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.340 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2552 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Intellectual disability syndromic and non-syndromic v0.2552 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2552 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Intellectual disability syndromic and non-syndromic v0.2551 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Intellectual disability syndromic and non-syndromic v0.2550 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2549 GABRA1 Zornitza Stark reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11992121, 21714819, 24623842, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 19 615744, Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.662 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Genetic Epilepsy v0.662 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.662 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Genetic Epilepsy v0.661 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Genetic Epilepsy v0.660 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.659 GABRA1 Zornitza Stark reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11992121, 21714819, 24623842, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 19 615744, Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2469 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Mendeliome v0.2469 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Mendeliome v0.2469 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Mendeliome v0.2468 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Mendeliome v0.2467 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2466 SIGMAR1 Zornitza Stark Marked gene: SIGMAR1 as ready
Mendeliome v0.2466 SIGMAR1 Zornitza Stark Gene: sigmar1 has been classified as Green List (High Evidence).
Mendeliome v0.2466 SIGMAR1 Zornitza Stark Phenotypes for gene: SIGMAR1 were changed from to Amyotrophic lateral sclerosis 16, juvenile 614373; ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726; distal hereditary motor neuropathy of Jerash type (HMNJ)
Mendeliome v0.2465 SIGMAR1 Zornitza Stark Publications for gene: SIGMAR1 were set to
Mendeliome v0.2464 SIGMAR1 Zornitza Stark Mode of inheritance for gene: SIGMAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v0.5 ATOH7 Zornitza Stark Marked gene: ATOH7 as ready
Vitreoretinopathy v0.5 ATOH7 Zornitza Stark Gene: atoh7 has been classified as Green List (High Evidence).
Vitreoretinopathy v0.5 ATOH7 Zornitza Stark Phenotypes for gene: ATOH7 were changed from to Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment
Vitreoretinopathy v0.4 ATOH7 Zornitza Stark Publications for gene: ATOH7 were set to
Vitreoretinopathy v0.3 ATOH7 Zornitza Stark Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vitreoretinopathy v0.2 ATOH7 Zornitza Stark reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900, microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2463 ATOH7 Zornitza Stark Marked gene: ATOH7 as ready
Mendeliome v0.2463 ATOH7 Zornitza Stark Gene: atoh7 has been classified as Green List (High Evidence).
Mendeliome v0.2463 ATOH7 Zornitza Stark Phenotypes for gene: ATOH7 were changed from to Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment
Mendeliome v0.2462 ATOH7 Zornitza Stark Publications for gene: ATOH7 were set to
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Marked gene: GNAI2 as ready
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2461 ATOH7 Zornitza Stark Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2460 GNAI2 Zornitza Stark Classified gene: GNAI2 as Amber List (moderate evidence)
Mendeliome v0.2460 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2459 GNAI2 Zornitza Stark reviewed gene: GNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27787898; Phenotypes: Syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Classified gene: GNAI2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2549 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark changed review comment from: Single individual with de novo variant reported.
Sources: Literature; to: Two individuals reported, some functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark edited their review of gene: GNAI2: Changed rating: AMBER; Changed publications: 31036916, 27787898
Intellectual disability syndromic and non-syndromic v0.2548 GNAI2 Zornitza Stark gene: GNAI2 was added
gene: GNAI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAI2 were set to 31036916
Phenotypes for gene: GNAI2 were set to Syndromic intellectual disability
Review for gene: GNAI2 was set to RED
Added comment: Single individual with de novo variant reported.
Sources: Literature
Mendeliome v0.2459 GNAI2 Zornitza Stark Marked gene: GNAI2 as ready
Mendeliome v0.2459 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Red List (Low Evidence).
Mendeliome v0.2459 GNAI2 Zornitza Stark Classified gene: GNAI2 as Red List (low evidence)
Mendeliome v0.2459 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Red List (Low Evidence).
Mendeliome v0.2458 KLHL24 Zornitza Stark Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy; Hypertrophic cardiomyopathy
Mendeliome v0.2457 KLHL24 Zornitza Stark Publications for gene: KLHL24 were set to 29779254; 30120936
Mendeliome v0.2456 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2455 KLHL24 Zornitza Stark reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 30715372; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.23 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.22 KLHL24 Zornitza Stark Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy v0.22 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.21 KLHL24 Zornitza Stark Classified gene: KLHL24 as Green List (high evidence)
Hypertrophic cardiomyopathy v0.21 KLHL24 Zornitza Stark Gene: klhl24 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Marked gene: FEM1B as ready
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Classified gene: FEM1B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2547 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2546 FEM1B Zornitza Stark gene: FEM1B was added
gene: FEM1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FEM1B were set to 31036916
Phenotypes for gene: FEM1B were set to Syndromic intellectual disability
Review for gene: FEM1B was set to AMBER
Added comment: No OMIM phenotype PMID: 31036916 - a single de novo patient reported in a neurodevelopmental disorder cohort. Authors note another de novo case with the exact same variant (p.Arg126Gln) from the DDD study, and a 3rd patient from GeneMatcher with the same de novo missense again. Decipher shows this variant to be in a highly constrained region of the protein. Cannot be certain the DDD and GeneMatcher individuals are unrelated, therefore treat as two reports for now.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2545 WIPI2 Zornitza Stark Marked gene: WIPI2 as ready
Intellectual disability syndromic and non-syndromic v0.2545 WIPI2 Zornitza Stark Gene: wipi2 has been classified as Red List (Low Evidence).
Mendeliome v0.2455 FEM1B Zornitza Stark Marked gene: FEM1B as ready
Mendeliome v0.2455 FEM1B Zornitza Stark Added comment: Comment when marking as ready: Agree cannot be confident these represent three unrelated families.
Mendeliome v0.2455 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2455 FEM1B Zornitza Stark Phenotypes for gene: FEM1B were changed from Syndromic global developmental delay to Syndromic intellectual disability
Mendeliome v0.2454 FEM1B Zornitza Stark Classified gene: FEM1B as Amber List (moderate evidence)
Mendeliome v0.2454 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2545 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Intellectual disability syndromic and non-syndromic v0.2545 SLC44A1 Zornitza Stark Added comment: Comment when marking as ready: Progressive neurodegenerative disorder rather than true intellectual disability. The first characteristic neurological abnormalities were noted between the ages of 2–8 years. Cardinal features included tremor, dysarthria, swallowing difficulties, ataxia, truncal muscle weakness, strabismus, and decreased visual acuity.
Intellectual disability syndromic and non-syndromic v0.2545 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2545 WIPI2 Zornitza Stark gene: WIPI2 was added
gene: WIPI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPI2 were set to 30968111
Phenotypes for gene: WIPI2 were set to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Review for gene: WIPI2 was set to RED
Added comment: Four homozygous individuals from one consanguineous family with intellectual disability, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.
Sources: Literature
Mendeliome v0.2453 WIPI2 Zornitza Stark Classified gene: WIPI2 as Red List (low evidence)
Mendeliome v0.2453 WIPI2 Zornitza Stark Gene: wipi2 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.79 SEC31A Zornitza Stark Marked gene: SEC31A as ready
Hereditary Spastic Paraplegia v0.79 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.79 SEC31A Zornitza Stark Classified gene: SEC31A as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v0.79 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v0.78 SEC31A Zornitza Stark gene: SEC31A was added
gene: SEC31A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to 30464055
Phenotypes for gene: SEC31A were set to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651; congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive
Review for gene: SEC31A was set to AMBER
Added comment: Frameshift. c.2776_2777, TA duplication, causing predicted p.A927fs*61 truncation and predicted NMD in 2 affected siblings in consanguineous Bedouin family with severe congenital neurological syndrome with spastic paraplegia, multiple contractures, profound developmental delay and convulsions. Failure to thrive. Lethal by age 4 years. Also had hearing defect, bilateral congenital cataract, horizontal nystagmus, with flat retina and optic atrophy. Supporting functional assays from knockout drosophila.
Sources: Literature
Mendeliome v0.2452 SEC31A Zornitza Stark Marked gene: SEC31A as ready
Mendeliome v0.2452 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2452 SEC31A Zornitza Stark Phenotypes for gene: SEC31A were changed from congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651; congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive
Mendeliome v0.2451 SEC31A Zornitza Stark Classified gene: SEC31A as Amber List (moderate evidence)
Mendeliome v0.2451 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Optic Atrophy v0.100 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood onset degeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Ataxia v0.211 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Ataxia v0.211 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Ataxia v0.211 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Ataxia v0.211 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Ataxia v0.210 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Regression v0.107 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Regression v0.107 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Regression v0.107 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Regression v0.107 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Regression v0.106 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Regression. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Mendeliome v0.2450 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Mendeliome v0.2450 SLC44A1 Zornitza Stark Added comment: Comment when marking as ready: Childhood onset neurodegeneration
Mendeliome v0.2450 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Mendeliome v0.2450 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Mendeliome v0.2450 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Mendeliome v0.2449 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Mendeliome v0.2449 SMCHD1 Zornitza Stark Added comment: Comment when marking as ready: Note association with FSHD2 is postulated to have digenic inheritance, caused by the combination of a heterozygous mutation in the SMCHD1 gene (614982) on chromosome 18p and presence of a haplotype on chromosome 4 that is permissive for DUX4 (606009) expression.
Mendeliome v0.2449 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence).
Mendeliome v0.2449 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome, MIM 603457; Fascioscapulohumeral muscular dystrophy 2, digenic
Mendeliome v0.2448 SMCHD1 Zornitza Stark Publications for gene: SMCHD1 were set to
Mendeliome v0.2447 SMCHD1 Zornitza Stark Mode of inheritance for gene: SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2, MIM 300672
Angelman Rett like syndromes v0.7 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Angelman Rett like syndromes v0.6 CDKL5 Zornitza Stark Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.5 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27080038, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2446 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Mendeliome v0.2446 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Mendeliome v0.2446 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2, MIM 300672
Mendeliome v0.2445 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Mendeliome v0.2444 CDKL5 Zornitza Stark Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral Palsy v0.16 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Cerebral Palsy v0.16 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v0.16 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Cerebral Palsy v0.16 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2443 AEBP1 Zornitza Stark Marked gene: AEBP1 as ready
Mendeliome v0.2443 AEBP1 Zornitza Stark Gene: aebp1 has been classified as Green List (High Evidence).
Mendeliome v0.2443 AEBP1 Zornitza Stark Phenotypes for gene: AEBP1 were changed from to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000
Mendeliome v0.2442 AEBP1 Zornitza Stark Publications for gene: AEBP1 were set to
Mendeliome v0.2441 AEBP1 Zornitza Stark Mode of inheritance for gene: AEBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 AEBP1 Zornitza Stark reviewed gene: AEBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29606302, 30668708, 30548383, 30759870; Phenotypes: Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Marked gene: AEBP1 as ready
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Gene: aebp1 has been classified as Green List (High Evidence).
Mendeliome v0.2440 SLC6A6 Chern Lim gene: SLC6A6 was added
gene: SLC6A6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy
Review for gene: SLC6A6 was set to AMBER
Added comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486)

One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034).
Sources: Literature
Mendeliome v0.2440 MRPS14 Dean Phelan reviewed gene: MRPS14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30358850; Phenotypes: perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 TMPRSS9 Chern Lim gene: TMPRSS9 was added
gene: TMPRSS9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS9 were set to 31943016
Phenotypes for gene: TMPRSS9 were set to autism spectrum disorder
Review for gene: TMPRSS9 was set to RED
Added comment: Association with Mendelian disease not established.

Is a candidate gene for autism spectrum disorder: single patient, compound heterozygous nonsense variants. Functional studies showed Tmprss9 gene is expressed in mouse brain, knockout mice had decreased social interest and social recognition. (PMID: 31943016)
Sources: Literature
Mendeliome v0.2440 MCAT Chern Lim gene: MCAT was added
gene: MCAT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCAT were set to 31915829
Phenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy
Review for gene: MCAT was set to RED
Added comment: One family reported - a consanguineous family, two homozygous missense variants in both affected siblings. Functional studies showed both missense together have synergic impact on MCAT protein misfolding; p.(L81R) had more impact on MCAT protein expression reduction than did the p.(R212W); some study in conditional knockout mice. (PMID:31915829)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2544 MAB21L1 Kristin Rigbye edited their review of gene: MAB21L1: Changed rating: GREEN
Mendeliome v0.2440 CAP2 Melanie Marty Deleted their comment
Mendeliome v0.2440 CAP2 Melanie Marty edited their review of gene: CAP2: Added comment: 2 patients with dilated cardiomyopathy from 1 consanguineous family. The splice variant identified in this family was proven to cause exon skipping and functional studies showed protein level was reduced. A Cap2 knockout mouse model correlated with the clinical phenotype of DCM and cardiac conduction disease, but not the other effects on growth, viability, wound healing and eye development.; Changed rating: RED
Mendeliome v0.2440 WIPI2 Melanie Marty Deleted their comment
Mendeliome v0.2440 WIPI2 Melanie Marty edited their review of gene: WIPI2: Added comment: Four homozygous patients from one consanguineous family with intellectual developmental, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.; Changed rating: RED; Changed phenotypes: Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Mendeliome v0.2440 ATOH7 Paul De Fazio changed review comment from: Segregates with disease in 3 consanguineous families from Pakistan/Turkey and one non-consanguineous family of Swiss origin. Functional effect was demonstrated in the latter family. The mouse homolog is required for retinal ganglion cell and optic nerve formation.; to: Segregates with disease in 3 consanguineous families from Pakistan/Turkey with global eye abnormalities, and one non-consanguineous family of Swiss origin with optic nerve hypoplasia. Functional effect was demonstrated in the latter family. The mouse homolog is required for retinal ganglion cell and optic nerve formation (in mice).
Mendeliome v0.2440 GFAP Paul De Fazio changed review comment from: Many (>20) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2440 GFAP Paul De Fazio changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>20) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2440 UBAP1 Ain Roesley reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31203368; Phenotypes: hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Phenotypes for gene: AEBP1 were changed from Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000 to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000
Aortopathy_Connective Tissue Disorders v0.21 AEBP1 Zornitza Stark Phenotypes for gene: AEBP1 were changed from to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000
Mendeliome v0.2440 RTTN Ee Ming Wong reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30879067; Phenotypes: Intellectual disability, cerebral polymicrogyria, primary microcephaly, growth defects, congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 PKDCC Paul De Fazio changed review comment from: 2 ("apparently") unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice.
Sources: Literature; to: 2 apparently unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice.
Sources: Literature
Aortopathy_Connective Tissue Disorders v0.20 AEBP1 Zornitza Stark Publications for gene: AEBP1 were set to
Mendeliome v0.2440 ORAI1 Natalie Tan changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)
Mendeliome v0.2440 CDKL5 Teresa Zhao reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Aortopathy_Connective Tissue Disorders v0.19 AEBP1 Zornitza Stark Mode of inheritance for gene: AEBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v0.15 GSX2 Zornitza Stark gene: GSX2 was added
gene: GSX2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis
Review for gene: GSX2 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Literature
Mendeliome v0.2440 STIM1 Natalie Tan reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31448844; Phenotypes: Myopathy, immunodeficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dystonia and Chorea v0.64 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Dystonia and Chorea v0.64 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.64 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Dystonia and Chorea v0.64 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.63 GSX2 Zornitza Stark gene: GSX2 was added
gene: GSX2 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis
Review for gene: GSX2 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2544 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2440 UBA2 Elena Savva gene: UBA2 was added
gene: UBA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBA2 were set to PMID: 31332306; 31587267
Phenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Penetrance for gene: UBA2 were set to unknown
Review for gene: UBA2 was set to AMBER
Added comment: No OMIM phenotype

PMID: 31332306 - a single patient with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in patients with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance

PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2543 GSX2 Zornitza Stark gene: GSX2 was added
gene: GSX2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646; Intellectual disability; Dystonia; Spastic tetra paresis
Review for gene: GSX2 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Literature
Mendeliome v0.2440 ORAI1 Natalie Tan changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)
Mendeliome v0.2440 ORAI1 Natalie Tan reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31448844; Phenotypes: Progressive myopathy, contractures; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2440 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Mendeliome v0.2440 GSX2 Zornitza Stark Added comment: Comment when marking as ready: Intellectual disability, spastic tetraparesis, dystonia
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2440 REC114 Michelle Torres gene: REC114 was added
gene: REC114 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: REC114 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REC114 were set to 30388401; 31704776
Phenotypes for gene: REC114 were set to Female infertility
Review for gene: REC114 was set to GREEN
Added comment: Three variants reported are either within or flanking exon 4.
- One hom patient (splice) had a miscarriage, 2 spontaneous complete hydatidiform moles, and 1 complete hydatidiform mole following intrauterine sperm injection (PMID: 30388401)
- Two hom unrelated patients from consanguineous families with abnormal pronuclear formation during fertilisation and subsequent early embrionic arrest resulting in female infertility. Both variants (1 missense and 1 splice) were shown to result in LoF (PMID: 31704776)
Sources: Literature
Mendeliome v0.2440 AGTPBP1 Kristin Rigbye reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30420557; Phenotypes: Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy, Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 GSX2 Zornitza Stark Marked gene: GSX2 as ready
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2440 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2439 C1orf194 Ain Roesley gene: C1orf194 was added
gene: C1orf194 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1orf194 were set to PMID: 31199454
Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth
Review for gene: C1orf194 was set to AMBER
Added comment: PMID: 31199454; 2 missense variants in 2 large families segregating in an AD pattern. Mouse models for one of the variants (p.(Ile121Asn) led to impairments in moto and neuromuscular functions
Sources: Literature
Mendeliome v0.2439 SLC35D1 Teresa Zhao reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31423530, 19508970; Phenotypes: Schneckenbecken dysplasia, MIM 269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, 616229
Mendeliome v0.2439 POLR1B Paul De Fazio changed review comment from: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature; to: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature
Osteogenesis Imperfecta and Osteoporosis v0.9 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.8 CREB3L1 Zornitza Stark Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.7 CREB3L1 Zornitza Stark reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2439 POLR1B Paul De Fazio gene: POLR1B was added
gene: POLR1B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to bilateral malar and mandibular hypoplasia; microtia; coloboma; downslanting palpebral fissures; conductive deafness; cleft palate; heart malformations
Review for gene: POLR1B was set to AMBER
gene: POLR1B was marked as current diagnostic
Added comment: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature
Mendeliome v0.2439 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Mendeliome v0.2439 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Mendeliome v0.2439 CREB3L1 Zornitza Stark Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, MIM#616229
Mendeliome v0.2438 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Mendeliome v0.2437 CREB3L1 Zornitza Stark Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2436 WARS Naomi Baker gene: WARS was added
gene: WARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WARS were set to PMID: 28369220; 31321409; 31069783.
Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX (OMIM:617721); juvenile to adult onset (15-23 years); distal wasting; distal weakness; length-dependent motor axonal degeneration
Review for gene: WARS was set to GREEN
Added comment: 14 patients from five families were reported to have WARS-related neuropathy across three publications. Expression studies of mutant demonstrated decreased protein when compared to wild-type.
Sources: Literature
Mendeliome v0.2436 ACKR3 Zornitza Stark Marked gene: ACKR3 as ready
Mendeliome v0.2436 ACKR3 Zornitza Stark Gene: ackr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2436 ACKR3 Zornitza Stark Phenotypes for gene: ACKR3 were changed from Oculomotor synkinesis to Oculomotor synkinesis; Ptosis
Mendeliome v0.2435 ACKR3 Zornitza Stark Classified gene: ACKR3 as Amber List (moderate evidence)
Mendeliome v0.2435 ACKR3 Zornitza Stark Gene: ackr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2434 CYLD Zornitza Stark Marked gene: CYLD as ready
Mendeliome v0.2434 CYLD Zornitza Stark Gene: cyld has been classified as Green List (High Evidence).
Mendeliome v0.2434 CYLD Zornitza Stark Phenotypes for gene: CYLD were changed from to Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and amyotrophic lateral sclerosis
Mendeliome v0.2433 CYLD Zornitza Stark Publications for gene: CYLD were set to
Mendeliome v0.2432 CYLD Zornitza Stark Mode of inheritance for gene: CYLD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2431 PCDH19 Zornitza Stark Marked gene: PCDH19 as ready
Mendeliome v0.2431 PCDH19 Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence).
Mendeliome v0.2431 PCDH19 Zornitza Stark Phenotypes for gene: PCDH19 were changed from to Epileptic encephalopathy, early infantile, 9 300088; PCDH19-related epilepsy (early seizure onset, generalised or focused seizures); cognitive impairment
Mendeliome v0.2430 PCDH19 Zornitza Stark Publications for gene: PCDH19 were set to
Mendeliome v0.2429 PCDH19 Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.2428 GFAP Zornitza Stark Marked gene: GFAP as ready
Mendeliome v0.2428 GFAP Zornitza Stark Gene: gfap has been classified as Green List (High Evidence).
Mendeliome v0.2428 GFAP Zornitza Stark Phenotypes for gene: GFAP were changed from to Alexander disease, MIM# 203450
Mendeliome v0.2427 SLC9A7 Dean Phelan reviewed gene: SLC9A7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30335141; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.2427 GFAP Zornitza Stark Publications for gene: GFAP were set to
Mendeliome v0.2426 GFAP Zornitza Stark Mode of inheritance for gene: GFAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Marked gene: COPA as ready
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Gene: copa has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Phenotypes for gene: COPA were changed from to Autoimmune interstitial lung, joint, and kidney disease, MIM 616414
Autoinflammatory Disorders v0.66 COPA Zornitza Stark Publications for gene: COPA were set to 31455335; 30804679
Autoinflammatory Disorders v0.65 COPA Zornitza Stark Publications for gene: COPA were set to
Autoinflammatory Disorders v0.64 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.63 COPA Zornitza Stark reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31455335, 30804679; Phenotypes: Autoimmune interstitial lung, joint, and kidney disease, MIM 616414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2425 COPA Zornitza Stark Marked gene: COPA as ready
Mendeliome v0.2425 COPA Zornitza Stark Gene: copa has been classified as Green List (High Evidence).
Mendeliome v0.2425 COPA Zornitza Stark Phenotypes for gene: COPA were changed from to Autoimmune interstitial lung, joint, and kidney disease, MIM 616414
Mendeliome v0.2424 COPA Zornitza Stark Publications for gene: COPA were set to
Mendeliome v0.2423 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Marked gene: SAMD12 as ready
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Tag deep intronic tag was added to gene: SAMD12.
Mendeliome v0.2422 DYRK1A Crystle Lee reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 31263215; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2422 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.15 LRP6 Elena Savva reviewed gene: LRP6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31332306; Phenotypes: {Coronary artery disease, autosomal dominant, 2} 610947, Tooth agenesis, selective, 7 616724, Split-hand/foot malformation; Mode of inheritance: None
Mendeliome v0.2421 PLOD3 Alison Yeung Marked gene: PLOD3 as ready
Mendeliome v0.2421 PLOD3 Alison Yeung Added comment: Comment when marking as ready: >3 unrelated families reported
Mendeliome v0.2421 PLOD3 Alison Yeung Gene: plod3 has been classified as Green List (High Evidence).
Mendeliome v0.2421 TLK2 Teresa Zhao reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:29861108, 29942082, 27479843, 23911319, 30559488, 29942082, 31558842; Phenotypes: Intellectual disability, MIM 618050, Neurodevelopmental disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Classified gene: SAMD12 as Green List (high evidence)
Genetic Epilepsy v0.659 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Mendeliome v0.2421 FOXG1 Zornitza Stark Marked gene: FOXG1 as ready
Mendeliome v0.2421 FOXG1 Zornitza Stark Gene: foxg1 has been classified as Green List (High Evidence).
Mendeliome v0.2421 PLOD3 Alison Yeung Mode of inheritance for gene: PLOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2421 FOXG1 Zornitza Stark Phenotypes for gene: FOXG1 were changed from to Rett syndrome, congenital variant, MIM# 613454
Mendeliome v0.2420 FOXG1 Zornitza Stark Publications for gene: FOXG1 were set to
Mendeliome v0.2419 FOXG1 Zornitza Stark Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.658 SAMD12 Zornitza Stark gene: SAMD12 was added
gene: SAMD12 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SAMD12 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SAMD12 were set to 30194086; 29507423
Phenotypes for gene: SAMD12 were set to Epilepsy, familial adult myoclonic, 1, MIM# 601068
Mode of pathogenicity for gene: SAMD12 was set to Other
Review for gene: SAMD12 was set to GREEN
Added comment: Repeat expansions of intronic TTTCA and TTTTA motifs within SAMD12 have been identified in over 50 Japanese and Chinese families. Most families with affected individuals were heterozygous however 4 patients from 3 families had homozygous repeat expansions, which was associated with a more severe phenotype. Western blot analysis showed decreased levels of the protein in patient brains. Note these were identified on long-read sequencing and may not be detectable by all assays.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Marked gene: IGF1R as ready
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Gene: igf1r has been classified as Green List (High Evidence).
Mendeliome v0.2418 TBX6 Alison Yeung Marked gene: TBX6 as ready
Mendeliome v0.2418 TBX6 Alison Yeung Added comment: Comment when marking as ready: Biallelic variants associated with spondylocostal dysostosis in >3 unrelated individuals
Mouse model recapitulates phenotype
Mendeliome v0.2418 TBX6 Alison Yeung Gene: tbx6 has been classified as Green List (High Evidence).
Mendeliome v0.2418 SAMD12 Zornitza Stark Marked gene: SAMD12 as ready
Mendeliome v0.2418 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Mendeliome v0.2418 SAMD12 Zornitza Stark Tag deep intronic tag was added to gene: SAMD12.
Mendeliome v0.2418 TBX6 Alison Yeung Mode of inheritance for gene: TBX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2418 SAMD12 Zornitza Stark Mode of inheritance for gene: SAMD12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2417 SAMD12 Zornitza Stark Classified gene: SAMD12 as Green List (high evidence)
Mendeliome v0.2417 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Differences of Sex Development v0.21 MYRF Ain Roesley gene: MYRF was added
gene: MYRF was added to Disorders of Sex Differentiation. Sources: Literature
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to PMID: 30985895
Phenotypes for gene: MYRF were set to disorders of sex development
Review for gene: MYRF was set to GREEN
Added comment: PMID: 30985895; 4 unrelated families with de novo variants. 1 family includes monozygotic twins
Sources: Literature
Mendeliome v0.2416 FUS Zornitza Stark commented on gene: FUS
Mendeliome v0.2416 ABCA4 Kristin Rigbye reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2416 CFAP69 Ee Ming Wong reviewed gene: CFAP69: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29606301, 30415212; Phenotypes: Asthenoteratospermia (Impaired sperm motility, severe flagellar abnormalities (short, coiled, absent or irregular calibre)); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2542 IGF1R Zornitza Stark Phenotypes for gene: IGF1R were changed from to Insulin-like growth factor I, resistance to, MIM# 270450
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.29 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM 300804; Orofaciodigital syndrome I, MIM 311200; Simpson-Golabi-Behmel syndrome, type 2, MIM 300209
Ciliary Dyskinesia v0.28 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Intellectual disability syndromic and non-syndromic v0.2541 IGF1R Zornitza Stark Publications for gene: IGF1R were set to 31586944
Intellectual disability syndromic and non-syndromic v0.2541 IGF1R Zornitza Stark Publications for gene: IGF1R were set to
Ciliary Dyskinesia v0.27 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2416 UBE3A Alison Yeung Marked gene: UBE3A as ready
Mendeliome v0.2416 UBE3A Alison Yeung Gene: ube3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Marked gene: YARS as ready
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Ciliary Dyskinesia v0.27 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2416 C9orf72 Zornitza Stark commented on gene: C9orf72
Mendeliome v0.2416 RASA1 Chern Lim reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14639529, 29891884, 24038909, 31300548; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Classified gene: YARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2540 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2539 YARS Zornitza Stark gene: YARS was added
gene: YARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS were set to 30304524; 29232904; 27633801
Phenotypes for gene: YARS were set to Intellectual disability; deafness; nystagmus; liver dysfunction
Review for gene: YARS was set to GREEN
Added comment: Mono-allelic variants are associated with CMT. However, 10 individuals from three unrelated families reported with bi-allelic variants and a severe phenotype, comprising ID, nystagmus, deafness, liver dysfunction and a range of other features.
Sources: Literature
Mendeliome v0.2416 ADAMTS19 Alison Yeung Marked gene: ADAMTS19 as ready
Mendeliome v0.2416 ADAMTS19 Alison Yeung Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2416 ADAMTS19 Alison Yeung Classified gene: ADAMTS19 as Amber List (moderate evidence)
Mendeliome v0.2416 ADAMTS19 Alison Yeung Added comment: Comment on list classification: Two different homozygous variants in two consanguineous families. Animal model demonstrates cardiac phenotype
Await further reported families
Mendeliome v0.2416 ADAMTS19 Alison Yeung Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2538 DYRK1A Crystle Lee reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.2538 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2415 YARS Zornitza Stark Marked gene: YARS as ready
Mendeliome v0.2415 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Mendeliome v0.2415 YARS Zornitza Stark Phenotypes for gene: YARS were changed from to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Bi-allelic variants: ID, deafness, nystagmus
Mendeliome v0.2414 YARS Zornitza Stark Publications for gene: YARS were set to
Mendeliome v0.2413 YARS Zornitza Stark Mode of inheritance for gene: YARS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2412 CFAP65 Zornitza Stark Marked gene: CFAP65 as ready
Mendeliome v0.2412 CFAP65 Zornitza Stark Gene: cfap65 has been classified as Green List (High Evidence).
Mendeliome v0.2412 CFAP65 Zornitza Stark Classified gene: CFAP65 as Green List (high evidence)
Mendeliome v0.2412 CFAP65 Zornitza Stark Gene: cfap65 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2537 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2411 CAP2 Alison Yeung Marked gene: CAP2 as ready
Mendeliome v0.2411 CAP2 Alison Yeung Gene: cap2 has been classified as Red List (Low Evidence).
Mendeliome v0.2411 CAP2 Alison Yeung Classified gene: CAP2 as Red List (low evidence)
Mendeliome v0.2411 CAP2 Alison Yeung Added comment: Comment on list classification: Currently only one consanguineous family reported.
Knockout mouse model shows cardiomyopathy but not other clinical features reported in this family
Mendeliome v0.2411 CAP2 Alison Yeung Gene: cap2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2536 IGF1R Zornitza Stark reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944; Phenotypes: Insulin-like growth factor I, resistance to, MIM# 270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2410 IGF1R Zornitza Stark Marked gene: IGF1R as ready
Mendeliome v0.2410 IGF1R Zornitza Stark Gene: igf1r has been classified as Green List (High Evidence).
Mendeliome v0.2410 IGF1R Zornitza Stark Phenotypes for gene: IGF1R were changed from to Insulin-like growth factor I, resistance to, MIM# 270450
Mendeliome v0.2409 IGF1R Zornitza Stark Publications for gene: IGF1R were set to
Mendeliome v0.2408 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2407 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Mendeliome v0.2407 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Mendeliome v0.2407 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome 606232; Rett syndrome; Rett-like phenotypes
Mendeliome v0.2406 CHD4 Teresa Zhao reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31388190; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2406 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Mendeliome v0.2405 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2404 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Mendeliome v0.2404 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Mendeliome v0.2404 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208
Mendeliome v0.2403 SCN1A Zornitza Stark Publications for gene: SCN1A were set to
Mendeliome v0.2402 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2401 ADAMTS19 Crystle Lee edited their review of gene: ADAMTS19: Changed rating: AMBER
Mendeliome v0.2401 CPSF1 Kristin Rigbye changed review comment from: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature; to: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (PMID: 30689892).
Sources: Literature
Mendeliome v0.2401 CPSF1 Kristin Rigbye edited their review of gene: CPSF1: Changed phenotypes: Myopia 27, 618827, high myopia, early-onset high myopia, high myopia
Mendeliome v0.2401 CPSF1 Kristin Rigbye gene: CPSF1 was added
gene: CPSF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CPSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPSF1 were set to 30689892
Phenotypes for gene: CPSF1 were set to Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia
Review for gene: CPSF1 was set to GREEN
Added comment: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature
Mendeliome v0.2401 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Mendeliome v0.2401 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence).
Mendeliome v0.2401 STXBP1 Zornitza Stark Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4 612164; Rett syndrome; Rett-like phenotypes
Mendeliome v0.2400 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to
Mendeliome v0.2399 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2398 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Mendeliome v0.2398 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Mendeliome v0.2398 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1 309800
Mendeliome v0.2397 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Mendeliome v0.2396 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Differences of Sex Development v0.21 RXFP2 Zornitza Stark Marked gene: RXFP2 as ready
Differences of Sex Development v0.21 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2395 CDC45 Teresa Zhao reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31474763; Phenotypes: Meier-Gorlin syndrome 7, MIM 617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2395 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Mendeliome v0.2395 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Mendeliome v0.2395 SIGMAR1 Michelle Torres changed review comment from: PMID: 31511340:
- N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect.
- Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS); to: PMID: 31511340:
- N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect.
- Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS)
Skeletal Muscle Channelopathies v0.3 ATP2A1 Sebastian Lunke reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32040565; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.657 SCN8A Ain Roesley reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.339 ABCC1 Crystle Lee gene: ABCC1 was added
gene: ABCC1 was added to Deafness. Sources: Expert Review
Mode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABCC1 were set to 31273342
Phenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss (PMID: 31273342)
Review for gene: ABCC1 was set to GREEN
Added comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected)

PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual
ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD.
Sources: Expert Review
Differences of Sex Development v0.21 RXFP2 Zornitza Stark Phenotypes for gene: RXFP2 were changed from to Cryptorchidism
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Marked gene: PKDCC as ready
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2395 WDR45 Zornitza Stark Phenotypes for gene: WDR45 were changed from to Neurodegeneration with brain iron accumulation 5 300894; Rett syndrome; Rett-like phenotypes
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark Marked gene: SOD2 as ready
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark Gene: sod2 has been classified as Red List (Low Evidence).
Mendeliome v0.2394 WDR45 Zornitza Stark Publications for gene: WDR45 were set to
Mendeliome v0.2393 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2392 GABRA1 Ain Roesley reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11992121, 21714819, 24623842, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark gene: SOD2 was added
gene: SOD2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SOD2 were set to 31494578
Phenotypes for gene: SOD2 were set to Lethal neonatal dilated cardiomyopathy
Review for gene: SOD2 was set to RED
Added comment: Single patient from a consanguineous family, with functional evidence (reduced total SOD activity in patient cells, lenti-rescue experiment restored mitochondrial SOD (SOD2) activity). (PMID: 31494578)
Sources: Literature
Mendeliome v0.2392 SIGMAR1 Michelle Torres reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31511340; Phenotypes: ?Amyotrophic lateral sclerosis 16, juvenile 614373, ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726, distal hereditary motor neuropathy of Jerash type (HMNJ); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2392 ATOH7 Paul De Fazio reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2392 GNAI2 Elena Savva gene: GNAI2 was added
gene: GNAI2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAI2 were set to PMID: 31036916
Phenotypes for gene: GNAI2 were set to Pituitary adenoma, ACTH-secreting, somatic; Ventricular tachycardia, idiopathic 192605; Syndromic developmental disorder
Review for gene: GNAI2 was set to AMBER
Added comment: Papers associating this gene to tachycardia are very old (pre 2000, OMIM).

PMID: 31036916 - a single de novo patient with syndromic developmental disorder

Summary: AMBER - one report, may be a coincidental de novo finding
Sources: Literature
Mendeliome v0.2392 SOD2 Zornitza Stark Phenotypes for gene: SOD2 were changed from {Microvascular complications of diabetes 6} 612634 to {Microvascular complications of diabetes 6} 612634; Lethal neonatal dilated cardiomyopathy
Mendeliome v0.2391 SOD2 Zornitza Stark Publications for gene: SOD2 were set to
Mendeliome v0.2390 SOD2 Zornitza Stark Mode of inheritance for gene: SOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.20 KLHL24 Kristin Rigbye gene: KLHL24 was added
gene: KLHL24 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: KLHL24 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLHL24 were set to 27798626; 27889062; 30715372
Phenotypes for gene: KLHL24 were set to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy
Review for gene: KLHL24 was set to GREEN
Added comment: Heterozygous variants in the start codon, resulting in the use of alternate downstream methionine at residue 29, have previously been reported in multiple patients with AD EBS. These variants have been shown to cause a gain of function, resulting in enhanced protein stability and higher abundance (OMIM).

Recent report of recessive KLHL24 variants in 2 unrelated consanguineous families (total of 7 sequenced affected individuals) with HCM (1 nonsense, 1 missense). A knockdown model of klhl24a in zebrafish recapitulated the cardiac phenotype, supporting loss of function as the mechanism in AR HCM (PMID: 30715372).
Sources: Literature
Differences of Sex Development v0.20 RXFP2 Zornitza Stark Publications for gene: RXFP2 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.1 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.1 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.1 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from Barrett esophagus/esophageal adenocarcinoma, 614266 (3) to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
Mendeliome v0.2389 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Mendeliome v0.2389 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.19 RXFP2 Zornitza Stark Mode of inheritance for gene: RXFP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2389 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
Aortopathy_Connective Tissue Disorders v0.18 SMAD2 Zornitza Stark Marked gene: SMAD2 as ready
Aortopathy_Connective Tissue Disorders v0.18 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Mendeliome v0.2388 ASCC1 Zornitza Stark Publications for gene: ASCC1 were set to
Mendeliome v0.2387 ASCC1 Zornitza Stark Mode of inheritance for gene: ASCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2386 FEM1B Elena Savva gene: FEM1B was added
gene: FEM1B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FEM1B were set to PMID: 31036916
Phenotypes for gene: FEM1B were set to Syndromic global developmental delay
Review for gene: FEM1B was set to AMBER
Added comment: No OMIM phenotype

PMID: 31036916 - a single de novo patient reported in a neurodevelopmental disorder cohort. Authors note another de novo case with the exact same variant (p.Arg126Gln) from the DDD study, and a 3rd patient from GeneMatcher with the same de novo missense again. Decipher shows this variant to be in a highly constrained region of the protein.

Have selected AMBER for now - not sure if GeneMatcher findings can be used as a 3rd case
Sources: Literature
Aortopathy_Connective Tissue Disorders v0.18 SMAD2 Zornitza Stark Classified gene: SMAD2 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v0.18 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.17 SMAD2 Zornitza Stark gene: SMAD2 was added
gene: SMAD2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 29967133
Phenotypes for gene: SMAD2 were set to Aortic and arterial aneurysmal disease; connective tissue disease
Review for gene: SMAD2 was set to GREEN
Added comment: 9 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.
Sources: Literature
Mendeliome v0.2386 SMAD2 Zornitza Stark Marked gene: SMAD2 as ready
Mendeliome v0.2386 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Mendeliome v0.2386 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from to Aortic and arterial aneurysmal disease; connective tissue disease
Differences of Sex Development v0.18 RXFP2 Zornitza Stark Classified gene: RXFP2 as Red List (low evidence)
Differences of Sex Development v0.18 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2385 SMAD2 Zornitza Stark Publications for gene: SMAD2 were set to
Aortopathy_Connective Tissue Disorders v0.16 SMAD3 Zornitza Stark Marked gene: SMAD3 as ready
Aortopathy_Connective Tissue Disorders v0.16 SMAD3 Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence).
Mendeliome v0.2384 RXFP2 Alison Yeung Classified gene: RXFP2 as Red List (low evidence)
Mendeliome v0.2384 RXFP2 Alison Yeung Added comment: Comment on list classification: Only single reported family with animal model reported. Both reviews to date are based on same publication. No new publications/reported cases since this one.
Mendeliome v0.2384 RXFP2 Alison Yeung Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2383 SMCHD1 Teresa Zhao changed review comment from: Seven probands with FSHD reported to have LP/P variants, which all predicted to disrupt the structure and conformation of SMCHD1.; to: Seven probands with FSHD reported to have LP/P variants, which all predicted to disrupt the structure and conformation of SMCHD1.

No particular geno-pheno correlation, but location of missense variants within the ATPase domain of MSCHD1 may contribute to the differences in phenotypic outcome (PMID: 31243061)
Aortopathy_Connective Tissue Disorders v0.16 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Mendeliome v0.2383 GFAP Paul De Fazio changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2383 GFAP Paul De Fazio changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2383 SMAD2 Zornitza Stark Mode of inheritance for gene: SMAD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.17 RXFP2 Zornitza Stark reviewed gene: RXFP2: Rating: RED; Mode of pathogenicity: None; Publications: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.15 SMAD3 Zornitza Stark Publications for gene: SMAD3 were set to
Mendeliome v0.2382 RXFP2 Zornitza Stark Marked gene: RXFP2 as ready
Mendeliome v0.2382 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2382 RXFP2 Zornitza Stark Phenotypes for gene: RXFP2 were changed from to Cryptorchidism
Mendeliome v0.2381 RXFP2 Zornitza Stark Publications for gene: RXFP2 were set to
Mendeliome v0.2380 RXFP2 Zornitza Stark Mode of inheritance for gene: RXFP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2536 SLC44A1 Sebastian Lunke gene: SLC44A1 was added
gene: SLC44A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
gene: SLC44A1 was marked as current diagnostic
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Mendeliome v0.2379 RXFP2 Zornitza Stark Classified gene: RXFP2 as Red List (low evidence)
Mendeliome v0.2379 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2378 RXFP2 Zornitza Stark reviewed gene: RXFP2: Rating: RED; Mode of pathogenicity: None; Publications: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2378 WIPI2 Melanie Marty gene: WIPI2 was added
gene: WIPI2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPI2 were set to 30968111
Phenotypes for gene: WIPI2 were set to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Review for gene: WIPI2 was set to AMBER
Added comment: Four homozygous patients from one consanguineous family with intellectual developmental, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.
Sources: Literature
Mendeliome v0.2378 SEC31A Hazel Phillimore gene: SEC31A was added
gene: SEC31A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to PMID: 30464055
Phenotypes for gene: SEC31A were set to congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive
Review for gene: SEC31A was set to AMBER
Added comment: Frameshift. c.2776_2777, TA duplication, causing predicted p.A927fs*61 truncation and predicted NMD in 2 affected siblings in consanguineous Bedouin family with severe congenital neurological syndrome with spastic paraplegia, multiple contractures, profound developmental delay and convulsions. Failure to thrive. Lethal by age 4 years. Also had hearing defect, bilateral congenital cataract, horizontal nystagmus, with flat retina and optic atrophy. Supporting functional assays from knockout drosophila.
Sources: Literature
Mendeliome v0.2378 SLC44A1 Sebastian Lunke gene: SLC44A1 was added
gene: SLC44A1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Mendeliome v0.2377 TBX6 Dean Phelan reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30307510, 31015262; Phenotypes: congenital vertebral malformations, congenital scoliosis, spondylocostal dysostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2377 SMCHD1 Teresa Zhao reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31600781; Phenotypes: Bosma arhinia microphthalmia syndrome, MIM 603457, Fascioscapulohumeral muscular dystrophy 2, digenic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Classified gene: PKDCC as Amber List (moderate evidence)
Skeletal dysplasia v0.15 PKDCC Zornitza Stark Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.14 PKDCC Zornitza Stark gene: PKDCC was added
gene: PKDCC was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKDCC were set to 30478137; 19097194
Phenotypes for gene: PKDCC were set to Rhizomelia; dysmorphism
Review for gene: PKDCC was set to AMBER
Added comment: Two unrelated consanguineous families reported with different homozygous variants
Pre-existing mouse model has similar phenotype
Sources: Literature
Mendeliome v0.2377 CDKL5 Ain Roesley reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27080038, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes, Epileptic encephalopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Aortopathy_Connective Tissue Disorders v0.14 AEBP1 Kristin Rigbye reviewed gene: AEBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29606302, 30668708, 30548383, 30759870; Phenotypes: Ehlers-Danlos Syndrome (EDS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v0.14 SMAD3 Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2377 GSX2 Elena Savva gene: GSX2 was added
gene: GSX2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to PMID: 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646
Review for gene: GSX2 was set to GREEN
Added comment: PMID: 31412107 - 2 unrelated patients with homozygous mutations (nonsense, missense). Functional analysis of the missense in transfected HeLa cells demonstrated protein mislocalization and protein expression. Downstream gene expression was also reduced by both mutations.

Summary: GREEN - 2 patients and functional evidence
Sources: Literature
Incidentalome v0.19 SMAD3 Zornitza Stark Marked gene: SMAD3 as ready
Incidentalome v0.19 SMAD3 Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.13 SMAD3 Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21217753, 30661052; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.19 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Incidentalome v0.18 SMAD3 Zornitza Stark Publications for gene: SMAD3 were set to
Incidentalome v0.17 SMAD3 Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2377 SPEF2 Zornitza Stark Marked gene: SPEF2 as ready
Mendeliome v0.2377 SPEF2 Zornitza Stark Gene: spef2 has been classified as Green List (High Evidence).
Mendeliome v0.2377 SPEF2 Zornitza Stark Classified gene: SPEF2 as Green List (high evidence)
Mendeliome v0.2377 SPEF2 Zornitza Stark Gene: spef2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2535 CTCF Zornitza Stark Marked gene: CTCF as ready
Intellectual disability syndromic and non-syndromic v0.2535 CTCF Zornitza Stark Gene: ctcf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2535 CTCF Zornitza Stark Phenotypes for gene: CTCF were changed from to Mental retardation, autosomal dominant 21 (MIM#615502)
Intellectual disability syndromic and non-syndromic v0.2534 CTCF Zornitza Stark Publications for gene: CTCF were set to
Intellectual disability syndromic and non-syndromic v0.2533 CTCF Zornitza Stark Mode of inheritance for gene: CTCF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2376 CREB3L1 Kristin Rigbye reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.57 DHH Zornitza Stark Marked gene: DHH as ready
Hereditary Neuropathy v0.57 DHH Zornitza Stark Gene: dhh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.57 DHH Zornitza Stark Classified gene: DHH as Green List (high evidence)
Hereditary Neuropathy v0.57 DHH Zornitza Stark Gene: dhh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.56 DHH Zornitza Stark gene: DHH was added
gene: DHH was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHH were set to 31018998; 29471294; 11017805
Phenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080
Review for gene: DHH was set to GREEN
Added comment: Neuropathy is part of the phenotype of this DSD.
Sources: Expert Review
Mendeliome v0.2376 PKDCC Alison Yeung Marked gene: PKDCC as ready
Mendeliome v0.2376 PKDCC Alison Yeung Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2376 PKDCC Alison Yeung Classified gene: PKDCC as Amber List (moderate evidence)
Mendeliome v0.2376 PKDCC Alison Yeung Added comment: Comment on list classification: Two unrelated consanguineous families reported with different homozygous variants
Pre-existing mouse model has similar phenotype
Needs more functional evidence or further reported families
Mendeliome v0.2376 PKDCC Alison Yeung Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Incidentalome v0.16 SMAD3 Melanie Marty reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21217753, 30661052; Phenotypes: Loeys-Dietz syndrome 3 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2375 SPEF2 Chern Lim gene: SPEF2 was added
gene: SPEF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751
Review for gene: SPEF2 was set to GREEN
gene: SPEF2 was marked as current diagnostic
Added comment: More than 3 unrelated families reported, all PTVs or splice variant. Functional studies showed SPEF2 protein levels were reduced in patients’ spermatozoa. (PMIDs: 31151990, 31278745, 31048344).
Sources: Literature
Mendeliome v0.2375 DHH Zornitza Stark Phenotypes for gene: DHH were changed from to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080
Intellectual disability syndromic and non-syndromic v0.2532 CTCF Crystle Lee reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746550, 31239556; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2374 DHH Zornitza Stark Publications for gene: DHH were set to
Mendeliome v0.2373 DHH Zornitza Stark Mode of inheritance for gene: DHH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2372 ACKR3 Elena Savva gene: ACKR3 was added
gene: ACKR3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACKR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACKR3 were set to PMID: 3121183
Phenotypes for gene: ACKR3 were set to Oculomotor synkinesis
Review for gene: ACKR3 was set to AMBER
Added comment: No phenotype currently listed in OMIM

PMID: 3121183 - 1 family (3 siblings and a cousin) with congenital ptosis and oculomotor synkinesis. Mouse model reciprocated the phenotype. Functional assay using transfected HEK293 cells show protein mislocalization and lower binding affinity

Emerging gene-disease association
Sources: Literature
Differences of Sex Development v0.17 DHH Zornitza Stark Marked gene: DHH as ready
Differences of Sex Development v0.17 DHH Zornitza Stark Gene: dhh has been classified as Green List (High Evidence).
Differences of Sex Development v0.17 DHH Zornitza Stark Phenotypes for gene: DHH were changed from to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080
Differences of Sex Development v0.16 DHH Zornitza Stark Publications for gene: DHH were set to
Differences of Sex Development v0.15 DHH Zornitza Stark Mode of inheritance for gene: DHH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2372 CYLD Kristin Rigbye edited their review of gene: CYLD: Changed publications: 10835629, 16307661, 12950348, 19807742, 32185393
Intellectual disability syndromic and non-syndromic v0.2532 MAB21L1 Zornitza Stark Publications for gene: MAB21L1 were set to 30487245
Congenital Heart Defect v0.27 TLL1 Bryony Thompson reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27418595, 30538173, 31570783, 18830233, 10331975; Phenotypes: Atrial septal defect 6 MIM#613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2372 MYCN Zornitza Stark Marked gene: MYCN as ready
Mendeliome v0.2372 MYCN Zornitza Stark Gene: mycn has been classified as Green List (High Evidence).
Mendeliome v0.2372 CYLD Kristin Rigbye reviewed gene: CYLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835629, 16307661, 12950348, 19807742; Phenotypes: Brooke-Spiegler syndrome, 605041, Cylindromatosis, familial, 132700, Trichoepithelioma, multiple familial, 1, 601606, Frontotemporal dementia and amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2372 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from to Feingold syndrome 1; megalencephaly; ventriculomegaly; hypoplastic corpus callosum; intellectual disability; polydactyly; neuroblastoma
Mendeliome v0.2371 CNNM4 Zornitza Stark Marked gene: CNNM4 as ready
Mendeliome v0.2371 CNNM4 Zornitza Stark Gene: cnnm4 has been classified as Green List (High Evidence).
Mendeliome v0.2371 PCDH19 Ee Ming Wong reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18469813, 30287595; Phenotypes: PCDH19-related epilepsy (early seizure onset, generalised or focused seizures), cognitive impairment; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.2371 CNNM4 Zornitza Stark Phenotypes for gene: CNNM4 were changed from to Jalili syndrome 217080; amelogenesis imperfecta, cone-rod dystrophy
Mendeliome v0.2370 MYCN Zornitza Stark Publications for gene: MYCN were set to
Mendeliome v0.2369 MYCN Zornitza Stark Mode of inheritance for gene: MYCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2368 GFAP Paul De Fazio reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 11138011, 12034785, 31004048, 15732097; Phenotypes: Leukodystrophy, macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.2368 ATM Zornitza Stark Marked gene: ATM as ready
Mendeliome v0.2368 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Mendeliome v0.2368 CNNM4 Zornitza Stark Publications for gene: CNNM4 were set to
Mendeliome v0.2367 CNNM4 Zornitza Stark Mode of inheritance for gene: CNNM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2366 ATM Zornitza Stark Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2365 COPA Teresa Zhao reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31455335, 30804679; Phenotypes: Autoimmune interstitial lung, joint, and kidney disease, MIM 616414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2365 ADAMTS19 Crystle Lee changed review comment from: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review; to: Borderline amber/green
PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review
Mendeliome v0.2365 FOXG1 Ain Roesley reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18571142, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2365 ADAMTS19 Crystle Lee changed review comment from: PMID: 31844321; Wünnemann 2020: 4 affected in unrelated 2 consanguineous family with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review; to: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review
Mendeliome v0.2365 PLOD3 Sarah Pantaleo reviewed gene: PLOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18834968, 31129566, 30237576, 30463024; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM#612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2365 SAMD12 Melanie Marty gene: SAMD12 was added
gene: SAMD12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SAMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD12 were set to 30194086; 29507423
Phenotypes for gene: SAMD12 were set to Epilepsy, familial adult myoclonic, 1 601068
Review for gene: SAMD12 was set to GREEN
Added comment: Repeat expansions of intronic TTTCA and TTTTA motifs within SAMD12 have been identified in over 50 Japanese and Chinese families. Most families with affected individuals were heterozygous however 4 patients from 3 families had homozygous repeat expansions, which was associated with a more severe phenotype. Western blot analysis showed decreased levels of the protein in patient brains.
Sources: Literature
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32276433, 31373179; Phenotypes: Joubert syndrome 10, MIM 300804, Orofaciodigital syndrome I, MIM 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.2365 FUS Elena Savva gene: FUS was added
gene: FUS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FUS were set to PMID: 32281455; 20668259; 20385912
Phenotypes for gene: FUS were set to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 608030; Essential tremor, hereditary, 4 614782
Mode of pathogenicity for gene: FUS was set to Other
Review for gene: FUS was set to GREEN
Added comment: PMID: 32281455 - Reports a case of Pediatric Amyotrophic Lateral Sclerosis. Reviews and shows multiple other reports of ALS casued by FUS

PMID: 20668259 - additional reports of ALS

PMID: 20385912 - postulated that disruption of this region may disrupt subcellular distribution of FUS, in turn affecting transcription and RNA processing and conferring a toxic gain of function.
Sources: Literature
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao Deleted their review
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao commented on gene: OFD1
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao Deleted their review
Mendeliome v0.2365 TBX6 Sarah Pantaleo reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8954725, 20503311, 23335591, 25564734, 31015262; Phenotypes: Skeletal dysplasia, spondylocostal dysostosis, congenital scoliosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Ciliary Dyskinesia v0.26 OFD1 Teresa Zhao reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31373179, 31373179; Phenotypes: Joubert syndrome 10, MIN 300804, Orofaciodigital syndrome I, MIN 311200, Simpson-Golabi-Behmel syndrome, type 2, MIM 300209; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.2365 UBE3A Ain Roesley reviewed gene: UBE3A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2365 ADAMTS19 Crystle Lee gene: ADAMTS19 was added
gene: ADAMTS19 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 31844321
Phenotypes for gene: ADAMTS19 were set to Non-syndromic heart valve disease
Review for gene: ADAMTS19 was set to GREEN
Added comment: PMID: 31844321; Wünnemann 2020: 4 affected in unrelated 2 consanguineous family with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review
Mendeliome v0.2365 ELOVL1 Hazel Phillimore changed review comment from: De novo in 2 unrelated patients. Decrease in ELOVL1 enzyme activity. The same 2 patients are in PMIDs: 30487246 and 29496980 but with different clinical findings. Deafness and optic atrophy are the additional features.; to: De novo missense (S165F) in 2 unrelated patients. Decrease in ELOVL1 enzyme activity. The same 2 patients are in PMIDs: 30487246 and 29496980 but with different clinical findings. Deafness and optic atrophy are the additional features.
Mendeliome v0.2365 C9orf72 Elena Savva gene: C9orf72 was added
gene: C9orf72 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C9orf72 were set to PMID: 30120348; 23284068
Phenotypes for gene: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Review for gene: C9orf72 was set to AMBER
Added comment: Possibly RED

Caused by expansion of GGGGCC repeats, dont know if these qualify for mendeliome
Sources: Literature
Mendeliome v0.2365 ELOVL1 Hazel Phillimore reviewed gene: ELOVL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30487246, 29496980; Phenotypes: ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness, optic atrophy, nystagmus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2365 TNFRSF21 Alison Yeung Marked gene: TNFRSF21 as ready
Mendeliome v0.2365 TNFRSF21 Alison Yeung Gene: tnfrsf21 has been classified as Red List (Low Evidence).
Mendeliome v0.2365 TNFRSF21 Alison Yeung Classified gene: TNFRSF21 as Red List (low evidence)
Mendeliome v0.2365 TNFRSF21 Alison Yeung Added comment: Comment on list classification: Report of single family
Limited functional evidence: tissue expression studies
Mendeliome v0.2365 TNFRSF21 Alison Yeung Gene: tnfrsf21 has been classified as Red List (Low Evidence).
Mendeliome v0.2364 YARS Dean Phelan reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30304524, 29232904, 27633801, 19561293; Phenotypes: peripheral neuropathy, multisystem disease, CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2364 CFAP65 Daniel Flanagan gene: CFAP65 was added
gene: CFAP65 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP65 were set to 31501240; 31413122
Phenotypes for gene: CFAP65 were set to Spermatogenic failure 40 618664
Penetrance for gene: CFAP65 were set to unknown
Review for gene: CFAP65 was set to GREEN
gene: CFAP65 was marked as current diagnostic
Added comment: 9 patients with multiple morphological abnormalities of the sperm flagella (MMAF) or completely immotile spermatozoa, in which, homozygous or compound heterozygous truncating CFAP65 variants were identified. Cfap65-mutated male mice displayed typical MMAF phenotypes with severe morphological abnormalities of the sperm flagella (PMID: 31501240, 31413122).
Sources: Literature
Mendeliome v0.2364 CAP2 Melanie Marty gene: CAP2 was added
gene: CAP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to 30518548
Phenotypes for gene: CAP2 were set to Dilated cardiomyopathy
Review for gene: CAP2 was set to AMBER
Added comment: 2 patients with dilated cardiomyopathy from 1 consanguineous family. The splice variant identified in this family was proven to cause exon skipping and functional studies showed protein level was reduced. A Cap2 knockout mouse model correlated with the clinical phenotype of DCM and cardiac conduction disease, but not the other effects on growth, viability, wound healing and eye development.
Sources: Literature
Mendeliome v0.2364 USP45 Alison Yeung Marked gene: USP45 as ready
Mendeliome v0.2364 USP45 Alison Yeung Gene: usp45 has been classified as Green List (High Evidence).
Mendeliome v0.2364 USP45 Alison Yeung Classified gene: USP45 as Green List (high evidence)
Mendeliome v0.2364 USP45 Alison Yeung Added comment: Comment on list classification: Two unrelated families
Functional studies in animal model recapitulate retinal phenotype
Mendeliome v0.2364 USP45 Alison Yeung Gene: usp45 has been classified as Green List (High Evidence).
Mendeliome v0.2363 SYCP2 Zornitza Stark Marked gene: SYCP2 as ready
Mendeliome v0.2363 SYCP2 Zornitza Stark Gene: sycp2 has been classified as Green List (High Evidence).
Mendeliome v0.2363 SYCP2 Zornitza Stark Classified gene: SYCP2 as Green List (high evidence)
Mendeliome v0.2363 SYCP2 Zornitza Stark Gene: sycp2 has been classified as Green List (High Evidence).
Mendeliome v0.2362 IGF1R Michelle Torres reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944; Phenotypes: Insulin-like growth factor I, resistance to 270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2362 SHANK3 Ain Roesley reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2362 SCN1A Ee Ming Wong reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30368457, 12754708, 25754450; Phenotypes: Dravet Syndrome, Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome, Febrile seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.2362 SYCP2 Zornitza Stark gene: SYCP2 was added
gene: SYCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SYCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYCP2 were set to 32092049; 31866047
Phenotypes for gene: SYCP2 were set to Male infertility
Review for gene: SYCP2 was set to GREEN
Added comment: Four individuals and a zebrafish model.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Marked gene: COASY as ready
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Added comment: Comment when marking as ready: Currently only two families reported with cerebellar hypoplasia.
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Gene: coasy has been classified as Red List (Low Evidence).
Mendeliome v0.2361 STXBP1 Ain Roesley reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Classified gene: COASY as Red List (low evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.33 COASY Alison Yeung Gene: coasy has been classified as Red List (Low Evidence).
Mendeliome v0.2361 NAA10 Naomi Baker reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842225.; Phenotypes: syndromic X-linked microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.2361 WDR45 Ain Roesley reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.32 CWF19L1 Elena Savva gene: CWF19L1 was added
gene: CWF19L1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to PMID:26197978; 25361784; 27016154; 15981765
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17 616127
Review for gene: CWF19L1 was set to GREEN
Added comment: Cerebellar hypoplasia predominantly affecting the vermis (OMIM)

PMID: 26197978 - 1 child with severe cerebellar hypoplasia (see below)

PMID: 25361784 - 1 family (2 siblings) with hypoplasia in the vermis and cerebellar hemispheres. Zebrafish animal model showed defective cerebellar structure and diminished staining

PMID: 27016154 - 1 family (1 child) with early onset cerebellar atrophy, proven by serial MRIs. Authors specify this is NOT hypoplasia, and highlight that PMID: 26197978 incorrectly reported hypoplasia instead of atrophy. Authors also acknowledge that hypoplasia and atrophy may be both occurring. Also notes MRI results from PMID: 15981765 have been published in PMID: 25361784.

PMID: 15981765 - 3 unrelated families (3 sibling pairs) with cerebellar hemisphere and vermis hypoplasia. Described as non-progressive.
Sources: Expert Review
Mendeliome v0.2361 SOD2 Chern Lim reviewed gene: SOD2: Rating: RED; Mode of pathogenicity: None; Publications: 31494578; Phenotypes: Lethal neonatal dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.37 SMPD4 Alison Yeung Marked gene: SMPD4 as ready
Arthrogryposis v0.37 SMPD4 Alison Yeung Gene: smpd4 has been classified as Green List (High Evidence).
Arthrogryposis v0.37 SMPD4 Alison Yeung Classified gene: SMPD4 as Green List (high evidence)
Arthrogryposis v0.37 SMPD4 Alison Yeung Gene: smpd4 has been classified as Green List (High Evidence).
Mendeliome v0.2361 ASCC1 Sarah Pantaleo reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30327447, 12077347, 26924529, 31880396, 26503956; Phenotypes: Arthrogryposis, congenital bone fractures, spinal muscular atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Arthrogryposis v0.36 SMPD4 Alison Yeung gene: SMPD4 was added
gene: SMPD4 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to 31495489
Phenotypes for gene: SMPD4 were set to Microcephaly; congenital arthrogryposis, intellectual disability
Review for gene: SMPD4 was set to GREEN
gene: SMPD4 was marked as current diagnostic
Added comment: Expansion of phenotype in known neurodevelopment disease gene
12 unrelated families reported. Arthrogryposis is a feature in 85%
Sources: Literature
Mendeliome v0.2361 SMAD2 Melanie Marty reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29967133; Phenotypes: Aortic and arterial aneurysmal disease, connective tissue disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2361 MYCN Ain Roesley reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21224895, 8470948, 30573562; Phenotypes: Feingold syndrome 1, megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly, neuroblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2531 ZMYND11 Zornitza Stark Marked gene: ZMYND11 as ready
Intellectual disability syndromic and non-syndromic v0.2531 ZMYND11 Zornitza Stark Gene: zmynd11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2531 ZMYND11 Zornitza Stark Phenotypes for gene: ZMYND11 were changed from to Mental retardation, autosomal dominant 30, MIM# 616083
Mendeliome v0.2361 MYCN Ain Roesley Deleted their review
Intellectual disability syndromic and non-syndromic v0.2530 ZMYND11 Zornitza Stark Publications for gene: ZMYND11 were set to
Intellectual disability syndromic and non-syndromic v0.2529 ZMYND11 Zornitza Stark Mode of inheritance for gene: ZMYND11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2528 ZMYND11 Zornitza Stark reviewed gene: ZMYND11: Rating: GREEN; Mode of pathogenicity: None; Publications: 32097528; Phenotypes: Mental retardation, autosomal dominant 30, MIM# 616083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2361 MYCN Ain Roesley changed review comment from: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function; to: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function
Mendeliome v0.2361 RXFP2 Teresa Zhao reviewed gene: RXFP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2361 PKDCC Paul De Fazio gene: PKDCC was added
gene: PKDCC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKDCC were set to PMID:30478137; 19097194
Phenotypes for gene: PKDCC were set to Dysmorphism; shortening of extremities
Review for gene: PKDCC was set to AMBER
gene: PKDCC was marked as current diagnostic
Added comment: 2 ("apparently") unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice.
Sources: Literature
Mendeliome v0.2361 DHH Naomi Baker reviewed gene: DHH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31018998, 29471294, 11017805; Phenotypes: gonadal dysgenesis, minifascicular neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2361 MYCN Ain Roesley edited their review of gene: MYCN: Added comment: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function; Changed rating: RED; Changed publications: PMID: 30573562; Changed phenotypes: megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly, neuroblastoma
Differences of Sex Development v0.14 DHH Naomi Baker reviewed gene: DHH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31018998, 29471294, 11017805.; Phenotypes: gonadal dysgenesis, minifascicular neuropathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.5 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Gastrointestinal neuromuscular disease v0.5 MYH11 Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.5 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Patent ductus arteriosus in 1 individual; Aortic aneurysm, familial thoracic 4, 132900 to Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome
Gastrointestinal neuromuscular disease v0.4 MYH11 Zornitza Stark Publications for gene: MYH11 were set to 31044419; 31427716; 25407000
Intellectual disability syndromic and non-syndromic v0.2528 MAB21L1 Kristin Rigbye reviewed gene: MAB21L1: Rating: ; Mode of pathogenicity: None; Publications: 27103078, 30487245; Phenotypes: Syndromic scrotal agenesis, syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome), Cerebello-Oculo-Facio-Genital syndrome; Mode of inheritance: None
Gastrointestinal neuromuscular disease v0.3 MYH11 Zornitza Stark Mode of inheritance for gene: MYH11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.2 MYH11 Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 31944481; Phenotypes: Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, Dominant smooth muscle dysmotility syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark edited their review of gene: POLD1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.339 POLD1 Zornitza Stark Mode of inheritance for gene: POLD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2361 MYCN Ain Roesley reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18470948, 21224895; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.338 POLD1 Zornitza Stark Classified gene: POLD1 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.338 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.337 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Deafness. Sources: Literature
Mode of inheritance for gene: POLD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381; Non-syndromic deafness
Review for gene: POLD1 was set to GREEN
Added comment: Established gene-disease association for mono-allelic variants with syndromic condition MIM#615381, which has deafness as a feature. Recent report of 5 individuals from a single family segregating bi-allelic variants in this gene and non-syndromic deafness. Please note association with non-syndromic deafness does not currently meet evidence threshold for Green rating.
Sources: Literature
Mendeliome v0.2361 TNFRSF21 Shannon Cowie gene: TNFRSF21 was added
gene: TNFRSF21 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: TNFRSF21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNFRSF21 were set to PMID: 31189563
Phenotypes for gene: TNFRSF21 were set to high myopia
Review for gene: TNFRSF21 was set to RED
gene: TNFRSF21 was marked as current diagnostic
Added comment: Source: JMG review Oct 2019
Large Chinese family, including 12 patients with non-syndromic HM
Immunofluorescence assay indicated that it is strongly expressed in the mouse eye.
Sources: Other
Mendeliome v0.2361 USP45 Kristin Rigbye gene: USP45 was added
gene: USP45 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: USP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP45 were set to 30573563
Phenotypes for gene: USP45 were set to Leber congenital amaurosis; retinal dystrophy
Review for gene: USP45 was set to GREEN
Added comment: 2 unrelated Chinese families reported with rare homozygous variants (one missense, one nonsense) and Leber congenital amaurosis. Animal knockout functional studies supported gene-disease association.

PMID: 30573563 "By analysing WES data based on allele frequencies of in-house controls, population allele frequencies and in silico prediction tools, two rare homozygous mutations in USP45 were identified in two unrelated families. Immunohistochemistry of USP45 in the human and zebrafish retinal sections revealed enriched expression in the inner segments of photoreceptors. The knockdown of usp45 transcript in zebrafish led to abnormal retinal development with effects on photoreceptors, which could be successfully rescued by wild-type usp45 mRNA. Moreover, targeted knockout of Usp45 in mice caused abnormal electroretinography responses, similar to that seen in patients with LCA."
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.32 COASY Elena Savva gene: COASY was added
gene: COASY was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to PMID: 30089828; 27021474; 24360804
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Review for gene: COASY was set to AMBER
Added comment: Emerging genotype-phenotype association:

PMID: 30089828 - 2 families (4 affecteds) with pontocerebellar hypoplasia. All patients have variants resulting in near-null protein expression. Same patient listed in Decipher.

PMID: 27021474 - Patient with NBIA, has a homozygous missense and is 17 years old. Patient had MRI, no mention of cerebellar hypoplasia/atrophy

PMID: 24360804 - Two patients (one chet PTC and missense, other a homozygous missense). Both patients had brain MRI, no mention of cerebellar hypoplasia/atrophy

Summary:
If residual activity -> NBIA phenotype, no cerebellar issues
If completely or near null - pontocerebellar hypoplasia
Sources: Expert Review
Mendeliome v0.2361 CNNM4 Ain Roesley reviewed gene: CNNM4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30705057; Phenotypes: Jalili syndrome (amelogenesis imperfecta, cone-rod dystrophy); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2361 ATM Kristin Rigbye reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 30819809; Phenotypes: Ataxia-telangiectasia MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.85 BAZ2B Zornitza Stark Marked gene: BAZ2B as ready
Autism v0.85 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Autism v0.85 BAZ2B Zornitza Stark Classified gene: BAZ2B as Green List (high evidence)
Autism v0.85 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Autism v0.84 BAZ2B Zornitza Stark gene: BAZ2B was added
gene: BAZ2B was added to Autism. Sources: Literature
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAZ2B were set to 31999386; 28135719; 25363768
Phenotypes for gene: BAZ2B were set to Intellectual disability; autism
Review for gene: BAZ2B was set to GREEN
Added comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2528 BAZ2B Zornitza Stark Marked gene: BAZ2B as ready
Intellectual disability syndromic and non-syndromic v0.2528 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2528 BAZ2B Zornitza Stark Classified gene: BAZ2B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2528 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2527 BAZ2B Zornitza Stark gene: BAZ2B was added
gene: BAZ2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAZ2B were set to 31999386
Phenotypes for gene: BAZ2B were set to Intellectual disability; autism
Review for gene: BAZ2B was set to GREEN
Added comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent
Sources: Literature
Mendeliome v0.2361 BAZ2B Zornitza Stark Marked gene: BAZ2B as ready
Mendeliome v0.2361 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Mendeliome v0.2361 BAZ2B Zornitza Stark Classified gene: BAZ2B as Green List (high evidence)
Mendeliome v0.2361 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Mendeliome v0.2360 BAZ2B Zornitza Stark gene: BAZ2B was added
gene: BAZ2B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAZ2B were set to 31999386; 28135719; 25363768
Phenotypes for gene: BAZ2B were set to Intellectual disability; autism
Review for gene: BAZ2B was set to GREEN
Added comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.32 TINF2 Crystle Lee gene: TINF2 was added
gene: TINF2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TINF2 were set to 18252230; 18979121; 18669893; 21477109
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 (MIM#613990); Revesz syndrome (MIM#268130)
Review for gene: TINF2 was set to GREEN
Added comment: Cerebellar hypoplasia is reported but not a consistent feature. Commonly associated with specific variants reported to cause dyskeratosis congenita and features of Hoyeraal-Hreidarsson and Revesz syndrome. The variants in patients with HH and/or RS are clustered at aa 280, 282, and 283 (Walne 2008)

PMID: 18252230; Savage 2008: Cerebellar hypoplasia reported one proband diagnosed with dyskeratosis congenita and Revesz syndrome. Same missense, R282H, reported in 2 other individuals who did not have cerebellar hypoplasia
PMID: 18979121; Tsangaris 2008: 1 proband with the same R282H reported. Cerebellar hypoplasia noted.
PMID: 18669893; Walne 2008: Cerebellar hypoplasia reported in 1 of 14 patients with R282H
PMID: 21477109; Sasa 2013: Cerebellar hypoplasia reported in 1 patient, p.(K280RfsX36).
PanelApp UK: "Variable cerebellar hypoplasia seen in this condition" Green
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 TMEM5 Crystle Lee gene: TMEM5 was added
gene: TMEM5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM5 were set to 23217329
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (MIM#615041)
Review for gene: TMEM5 was set to GREEN
Added comment: Associated with cerebellar dysplasia. This gene is also known as RXYLT1

PMID: 23217329; Vuillaumier-Barrot 2012: Reported hom variants in 5 families with cobblestone lissencephaly.
PMID: 27212206; Guja Astrea 2016; Reported one patient with dysplastic cerebellar cortex, and small subcortical cerebellar cysts. Hypoplasia of the pons with a ventral cleft and a dilated and dysmorphic fourth ventricle.
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 CEP55 Elena Savva reviewed gene: CEP55: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28264986, 32100459, 28295209; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.32 TRAPPC6B Crystle Lee reviewed gene: TRAPPC6B: Rating: RED; Mode of pathogenicity: None; Publications: 28626029, 28397838; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.32 CACNA1G Elena Savva gene: CACNA1G was added
gene: CACNA1G was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1G were set to PMID: 29878067; 31217264; 26456284
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087
Mode of pathogenicity for gene: CACNA1G was set to Other
Review for gene: CACNA1G was set to GREEN
Added comment: OMIM notes Cerebellar hypoplasia as a phenotype

Mechanism currently listed as unknown, with evidence of both LoF and GoF (PMID: 31217264). PMID: 29878067 demonstrated impaired channel inactivation with slower inactivation and deactivation kinetics (suggesting GOF). Given only missense have been reported, this is the likely mechanism of disease.

PMID: 29878067 - cerebellar ataxia observed in 4 children, global atrophy in 3/4 and vermis atrophy in 1/4. All showed normal pons. Three children share a recurring de novo missense (p.Ala961Thr).

PMID: 26456284 - overlapping authors with 29878067 but describes familial cases. Additional (adult and children) patients with cerebellar hypoplasia and vermian atrophy
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 TUBB Crystle Lee changed review comment from: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia

Brainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)
Breuss M: Cerebellum abnormalities reported in 3 patients. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)
Decipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis
Red in PanelApp UK
Sources: Expert Review; to: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia

Brainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)
Breuss M: Cerebellum abnormalities reported in 3 patients with de novo missense variants. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)
Decipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis
Red in PanelApp UK
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 TUBB Crystle Lee gene: TUBB was added
gene: TUBB was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB were set to 23246003
Phenotypes for gene: TUBB were set to Cortical dysplasia, complex, with other brain malformations 6 (MIM#615771)
Review for gene: TUBB was set to AMBER
Added comment: Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia

Brainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)
Breuss M: Cerebellum abnormalities reported in 3 patients. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)
Decipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis
Red in PanelApp UK
Sources: Expert Review
Cerebellar and Pontocerebellar Hypoplasia v0.32 BCL11A Elena Savva reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27453576, 25979662; Phenotypes: Dias-Logan syndrome 617101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Leukodystrophy v0.56 ISCA1 Bryony Thompson Marked gene: ISCA1 as ready
Leukodystrophy v0.56 ISCA1 Bryony Thompson Gene: isca1 has been classified as Green List (High Evidence).
Leukodystrophy v0.56 ISCA1 Bryony Thompson Publications for gene: ISCA1 were set to
Leukodystrophy v0.54 ISCA1 Bryony Thompson Classified gene: ISCA1 as Green List (high evidence)
Leukodystrophy v0.54 ISCA1 Bryony Thompson Gene: isca1 has been classified as Green List (High Evidence).
Leukodystrophy v0.53 ISCA1 Bryony Thompson gene: ISCA1 was added
gene: ISCA1 was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5 MIM#617613
Leukodystrophy v0.52 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Mendeliome v0.2359 TPI1 Zornitza Stark Marked gene: TPI1 as ready
Mendeliome v0.2359 TPI1 Zornitza Stark Gene: tpi1 has been classified as Green List (High Evidence).
Mendeliome v0.2359 TPI1 Zornitza Stark Classified gene: TPI1 as Green List (high evidence)
Mendeliome v0.2359 TPI1 Zornitza Stark Gene: tpi1 has been classified as Green List (High Evidence).
Mendeliome v0.2358 TPI1 Zornitza Stark gene: TPI1 was added
gene: TPI1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency, MIM# 615512
Review for gene: TPI1 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.2357 EMG1 Zornitza Stark Marked gene: EMG1 as ready
Mendeliome v0.2357 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2357 EMG1 Zornitza Stark Classified gene: EMG1 as Amber List (moderate evidence)
Mendeliome v0.2357 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2356 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMG1 were set to 19463982
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, MIM#211180
Review for gene: EMG1 was set to AMBER
Added comment: Founder mutation in Hutterite, D86G.
Sources: Expert list
Mendeliome v0.2355 EIF2AK4 Zornitza Stark Marked gene: EIF2AK4 as ready
Mendeliome v0.2355 EIF2AK4 Zornitza Stark Gene: eif2ak4 has been classified as Green List (High Evidence).
Mendeliome v0.2355 EIF2AK4 Zornitza Stark Classified gene: EIF2AK4 as Green List (high evidence)
Mendeliome v0.2355 EIF2AK4 Zornitza Stark Gene: eif2ak4 has been classified as Green List (High Evidence).
Mendeliome v0.2354 EIF2AK4 Zornitza Stark gene: EIF2AK4 was added
gene: EIF2AK4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, MIM#234810
Review for gene: EIF2AK4 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.2353 AGBL5 Zornitza Stark Marked gene: AGBL5 as ready
Mendeliome v0.2353 AGBL5 Zornitza Stark Gene: agbl5 has been classified as Green List (High Evidence).
Mendeliome v0.2353 AGBL5 Zornitza Stark Classified gene: AGBL5 as Green List (high evidence)
Mendeliome v0.2353 AGBL5 Zornitza Stark Gene: agbl5 has been classified as Green List (High Evidence).
Mendeliome v0.2352 AGBL5 Zornitza Stark gene: AGBL5 was added
gene: AGBL5 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGBL5 were set to 26720455; 26355662; 30925032
Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, MIM# 617023
Review for gene: AGBL5 was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SHOX Zornitza Stark Marked gene: SHOX as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v0.77 ZFR Bryony Thompson Marked gene: ZFR as ready
Hereditary Spastic Paraplegia v0.77 ZFR Bryony Thompson Gene: zfr has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.77 ZFR Bryony Thompson reviewed gene: ZFR: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.77 WDR48 Bryony Thompson Marked gene: WDR48 as ready
Hereditary Spastic Paraplegia v0.77 WDR48 Bryony Thompson Gene: wdr48 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.77 WDR48 Bryony Thompson Classified gene: WDR48 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.77 WDR48 Bryony Thompson Gene: wdr48 has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.76 WDR48 Bryony Thompson reviewed gene: WDR48: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.76 USP8 Bryony Thompson reviewed gene: USP8: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: None
Hereditary Spastic Paraplegia v0.76 TPP1 Bryony Thompson changed review comment from: A single case reported with complicated HSP.; to: A single case reported with complicated HSP. Cannot find evidence that spastic paraplegia is a prominent feature of the condition.
Hereditary Spastic Paraplegia v0.76 TPP1 Bryony Thompson reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: None; Publications: 27217339; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.76 TPP1 Bryony Thompson Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis neuronal 2; complex hereditary spastic paraplegia to Ceroid lipofuscinosis neuronal 2
Hereditary Spastic Paraplegia v0.75 MTPAP Bryony Thompson Classified gene: MTPAP as Red List (low evidence)
Hereditary Spastic Paraplegia v0.75 MTPAP Bryony Thompson Gene: mtpap has been classified as Red List (Low Evidence).
Hereditary Spastic Paraplegia v0.74 MTPAP Bryony Thompson reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: 20970105, 27391121; Phenotypes: Spastic ataxia 4, autosomal recessive MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.74 MARS Bryony Thompson reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNHIT3 Zornitza Stark gene: ZNHIT3 was added
gene: ZNHIT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNF711 Zornitza Stark gene: ZNF711 was added
gene: ZNF711 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF711 were set to Mental retardation, X-linked 97, 300803 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNF469 Zornitza Stark gene: ZNF469 was added
gene: ZNF469 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1, 229200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZNF335 Zornitza Stark gene: ZNF335 was added
gene: ZNF335 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZMYND10 Zornitza Stark gene: ZMYND10 was added
gene: ZMYND10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMYND10 were set to Ciliary dyskinesia, primary, 22, 615444 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy, lethal, 275210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZFYVE26 Zornitza Stark gene: ZFYVE26 was added
gene: ZFYVE26 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, 270700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, 300799 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZC4H2 Zornitza Stark gene: ZC4H2 was added
gene: ZC4H2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, 314580 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ZAP70 Zornitza Stark gene: ZAP70 was added
gene: ZAP70 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZAP70 were set to Selective T-cell defect, 269840 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XYLT2 Zornitza Stark gene: XYLT2 was added
gene: XYLT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2, 615777 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1, 613159 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, 300635 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WWOX Zornitza Stark gene: WWOX was added
gene: WWOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Epileptic encephalopathy, early infantile, 28, 616211 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome, 277700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNT10B Zornitza Stark gene: WNT10B was added
gene: WNT10B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6, 225300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, 615220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome, 222300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR81 Zornitza Stark gene: WDR81 was added
gene: WDR81 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR73 Zornitza Stark gene: WDR73 was added
gene: WDR73 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway-Mowat syndrome, 251300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR45B Zornitza Stark gene: WDR45B was added
gene: WDR45B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR45B were set to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to Senior-Loken syndrome 8, 616307 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VWF Zornitza Stark gene: VWF was added
gene: VWF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VWF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VWF were set to von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VSX2 Zornitza Stark gene: VSX2 was added
gene: VSX2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VRK1 Zornitza Stark gene: VRK1 was added
gene: VRK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, 615851 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS37A Zornitza Stark gene: VPS37A was added
gene: VPS37A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive, 614898 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS13A Zornitza Stark gene: VPS13A was added
gene: VPS13A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VMA21 Zornitza Stark gene: VMA21 was added
gene: VMA21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VKORC1 Zornitza Stark gene: VKORC1 was added
gene: VKORC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 VARS Zornitza Stark gene: VARS was added
gene: VARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 USB1 Zornitza Stark gene: USB1 was added
gene: USB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia, 604173 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, 263700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UQCRC2 Zornitza Stark gene: UQCRC2 was added
gene: UQCRC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UPF3B Zornitza Stark gene: UPF3B was added
gene: UPF3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UPF3B were set to Mental retardation, X-linked, syndromic 14, 300676 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UPB1 Zornitza Stark gene: UPB1 was added
gene: UPB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, 613161 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UNC80 Zornitza Stark gene: UNC80 was added
gene: UNC80 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UNC13D Zornitza Stark gene: UNC13D was added
gene: UNC13D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UMPS were set to Orotic aciduria, 258900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I, 218800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UFM1 Zornitza Stark gene: UFM1 was added
gene: UFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, 243800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBE3B Zornitza Stark gene: UBE3B was added
gene: UBE3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, 244450 (3)
Hereditary Spastic Paraplegia v0.74 LARS2 Bryony Thompson reviewed gene: LARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 4 MIM#615300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBE2A Zornitza Stark gene: UBE2A was added
gene: UBE2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBA5 Zornitza Stark gene: UBA5 was added
gene: UBA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYRP1 Zornitza Stark gene: TYRP1 was added
gene: TYRP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III, 203290 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA, 203100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYMP Zornitza Stark gene: TYMP was added
gene: TYMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TYK2 Zornitza Stark gene: TYK2 was added
gene: TYK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYK2 were set to Immunodeficiency 35, 611521 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNL4A were set to Burn-McKeown syndrome, 608572 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUSC3 Zornitza Stark gene: TUSC3 was added
gene: TUSC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7, 611093 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TULP1 Zornitza Stark gene: TULP1 was added
gene: TULP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14, 600132 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUFM Zornitza Stark gene: TUFM was added
gene: TUFM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUBGCP6 Zornitza Stark gene: TUBGCP6 was added
gene: TUBGCP6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP6 were set to Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia, 613180 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, 277460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTI2 Zornitza Stark gene: TTI2 was added
gene: TTI2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTI2 were set to Mental retardation, autosomal recessive 39, 615541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, 222470 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSPYL1 Zornitza Stark gene: TSPYL1 was added
gene: TSPYL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSPAN7 Zornitza Stark gene: TSPAN7 was added
gene: TSPAN7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TSPAN7 were set to Mental retardation, X-linked 58, 300210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4, 275100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A, 277470 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TSEN2 Zornitza Stark gene: TSEN2 was added
gene: TSEN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, 602014 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRMU Zornitza Stark gene: TRMU was added
gene: TRMU was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to Liver failure, transient infantile, 613070 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism, 616033 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIT1 Zornitza Stark gene: TRIT1 was added
gene: TRIT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, 200600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism, 253250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRAPPC9 Zornitza Stark gene: TRAPPC9 was added
gene: TRAPPC9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC9 were set to Mental retardation, autosomal recessive 13, 613192 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRAPPC11 Zornitza Stark gene: TRAPPC11 was added
gene: TRAPPC11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPM3 Zornitza Stark gene: TPM3 was added
gene: TPM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPM3 were set to Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPK1 Zornitza Stark gene: TPK1 was added
gene: TPK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TPI1 Zornitza Stark gene: TPI1 was added
gene: TPI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TOE1 Zornitza Stark gene: TOE1 was added
gene: TOE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNNT1 Zornitza Stark gene: TNNT1 was added
gene: TNNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, 259710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFRSF13B Zornitza Stark gene: TNFRSF13B was added
gene: TNFRSF13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2, 240500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset, 239000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, 612301 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMTC3 Zornitza Stark gene: TMTC3 was added
gene: TMTC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMTC3 were set to Lissencephaly 8, 617255 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6, 610688 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome 14, 614424 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20, 614970 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome 2, 608091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk, 614727 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16, 614465 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM126A Zornitza Stark gene: TMEM126A was added
gene: TMEM126A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126A were set to Optic atrophy 7, 612989 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM107 Zornitza Stark gene: TMEM107 was added
gene: TMEM107 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM107 were set to Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TK2 Zornitza Stark gene: TK2 was added
gene: TK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TJP2 were set to Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to Jensen syndrome, 311150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 THOC2 Zornitza Stark gene: THOC2 was added
gene: THOC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TH Zornitza Stark gene: TH was added
gene: TH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Segawa syndrome, recessive, 605407 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TF were set to Atransferrinemia, 209300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TDRD7 Zornitza Stark gene: TDRD7 was added
gene: TDRD7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDRD7 were set to Cataract 36, 613887 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome 18, 614815 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Joubert syndrome 24
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, 259700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBX19 Zornitza Stark gene: TBX19 was added
gene: TBX19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, 201400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBCK Zornitza Stark gene: TBCK was added
gene: TBCK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCK were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Kenny-Caffey syndrome-1, 244460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16, 615338 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TBC1D23 Zornitza Stark gene: TBC1D23 was added
gene: TBC1D23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, 302060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TAP1 Zornitza Stark gene: TAP1 was added
gene: TAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAP1 were set to Bare lymphocyte syndrome, type I, 604571 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency, 606003 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SYP Zornitza Stark gene: SYP was added
gene: SYP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYP were set to Mental retardation, X-linked 96, 300802 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SYN1 Zornitza Stark gene: SYN1 was added
gene: SYN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, 272300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, 272200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STX11 Zornitza Stark gene: STX11 was added
gene: STX11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STUB1 Zornitza Stark gene: STUB1 was added
gene: STUB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, 601186 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STIL Zornitza Stark gene: STIL was added
gene: STIL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIL were set to Microcephaly 7, primary, autosomal recessive, 612703 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT1 were set to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STAR Zornitza Stark gene: STAR was added
gene: STAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to Lipoid adrenal hyperplasia, 201710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, 614261 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SSR4 Zornitza Stark gene: SSR4 was added
gene: SSR4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SQSTM1 Zornitza Stark gene: SQSTM1 was added
gene: SQSTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPNS1 Zornitza Stark gene: SPNS1 was added
gene: SPNS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPNS1 were set to Immunodeficiency 52, 617514 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPINT2 Zornitza Stark gene: SPINT2 was added
gene: SPINT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton syndrome, 256500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, 604360 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPATA7 Zornitza Stark gene: SPATA7 was added
gene: SPATA7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA7 were set to Leber congenital amaurosis 3, 604232 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPART Zornitza Stark gene: SPART was added
gene: SPART was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPART were set to Troyer syndrome, 275900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SPAG1 Zornitza Stark gene: SPAG1 was added
gene: SPAG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPAG1 were set to Ciliary dyskinesia, primary, 28, 615505 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SP110 Zornitza Stark gene: SP110 was added
gene: SP110 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SOST Zornitza Stark gene: SOST was added
gene: SOST was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to Sclerosteosis 1, 269500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SNX14 Zornitza Stark gene: SNX14 was added
gene: SNX14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, 257200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia, 242900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC9A3 Zornitza Stark gene: SLC9A3 was added
gene: SLC9A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC9A3 were set to Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC6A3 Zornitza Stark gene: SLC6A3 was added
gene: SLC6A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC5A7 Zornitza Stark gene: SLC5A7 was added
gene: SLC5A7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR, 611590 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, 229050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC45A2 Zornitza Stark gene: SLC45A2 was added
gene: SLC45A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Albinism, oculocutaneous, type IV, 606574 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC39A14 Zornitza Stark gene: SLC39A14 was added
gene: SLC39A14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC38A8 Zornitza Stark gene: SLC38A8 was added
gene: SLC38A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, 232220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, 269250 (3)
Hereditary Spastic Paraplegia v0.74 KLC4 Bryony Thompson reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: None; Publications: 26423925; Phenotypes: Complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC35A3 Zornitza Stark gene: SLC35A3 was added
gene: SLC35A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A3 were set to ?Arthrogryposis, mental retardation, and seizures
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC30A10 Zornitza Stark gene: SLC30A10 was added
gene: SLC30A10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, 227810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, 208050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Diarrhea 1, secretory chloride, congenital, 214700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, 600972 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, 605814 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC24A5 Zornitza Stark gene: SLC24A5 was added
gene: SLC24A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A5 were set to Albinism, oculocutaneous, type VI, 113750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, 269920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC16A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency, 616095 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC13A5 Zornitza Stark gene: SLC13A5 was added
gene: SLC13A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25, 615905 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A5 were set to Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, 601678 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, 614602 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SHOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SH3TC2 Zornitza Stark gene: SH3TC2 was added
gene: SH3TC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SH3PXD2B Zornitza Stark gene: SH3PXD2B was added
gene: SH3PXD2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, 308240 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome 14, 617575 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGO1 Zornitza Stark gene: SGO1 was added
gene: SGO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCG Zornitza Stark gene: SGCG was added
gene: SGCG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCB Zornitza Stark gene: SGCB was added
gene: SGCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SGCA Zornitza Stark gene: SGCA was added
gene: SGCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SFTPB Zornitza Stark gene: SFTPB was added
gene: SFTPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Orofaciodigital syndrome VI, 277170 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, 613982 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEMA4A Zornitza Stark gene: SEMA4A was added
gene: SEMA4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEMA4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1, 602771 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II, 224100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SEC23A Zornitza Stark gene: SEC23A was added
gene: SEC23A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, 607812 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SDHAF1 Zornitza Stark gene: SDHAF1 was added
gene: SDHAF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency, 252011 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCYL1 Zornitza Stark gene: SCYL1 was added
gene: SCYL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, 264350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, 264350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCN9A Zornitza Stark gene: SCN9A was added
gene: SCN9A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCN9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Insensitivity to pain, congenital, 243000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome, 600920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SCARB2 Zornitza Stark gene: SCARB2 was added
gene: SCARB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SBF2 Zornitza Stark gene: SBF2 was added
gene: SBF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, 260400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SAR1B Zornitza Stark gene: SAR1B was added
gene: SAR1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMD9 were set to Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia, 255320 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTTN were set to Polymicrogyria with seizures, 614833 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RTN4IP1 Zornitza Stark gene: RTN4IP1 was added
gene: RTN4IP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary, 12, 612650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11, 612649 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RSPH1 Zornitza Stark gene: RSPH1 was added
gene: RSPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH1 were set to Ciliary dyskinesia, primary, 24, 615481 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPL10 Zornitza Stark gene: RPL10 was added
gene: RPL10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5, 611561 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPGRIP1 Zornitza Stark gene: RPGRIP1 was added
gene: RPGRIP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to Cone-rod dystrophy 13, 608194 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPGR were set to Macular degeneration, X-linked atrophic, 300834 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Leber congenital amaurosis 2, 204100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RP2 Zornitza Stark gene: RP2 was added
gene: RP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RORC Zornitza Stark gene: RORC was added
gene: RORC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RORC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RORC were set to Immunodeficiency 42, 616622 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, 268310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ROGDI Zornitza Stark gene: ROGDI was added
gene: ROGDI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROGDI were set to Kohlschutter-Tonz syndrome, 226750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ROBO3 Zornitza Stark gene: ROBO3 was added
gene: ROBO3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROBO3 were set to Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASET2 Zornitza Stark gene: RNASET2 was added
gene: RNASET2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, 610329 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, 610181 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, 610333 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, 250250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RLIM Zornitza Stark gene: RLIM was added
gene: RLIM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RLIM were set to Mental retardation, X-linked 61, 300978 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RIPK4 Zornitza Stark gene: RIPK4 was added
gene: RIPK4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome 2, lethal type, 263650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RIN2 Zornitza Stark gene: RIN2 was added
gene: RIN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFXAP Zornitza Stark gene: RFXAP was added
gene: RFXAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFXANK Zornitza Stark gene: RFXANK was added
gene: RFXANK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B, 209920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, 612015 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RETREG1 Zornitza Stark gene: RETREG1 was added
gene: RETREG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 REN Zornitza Stark gene: REN was added
gene: REN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis, 267430 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 REEP6 Zornitza Stark gene: REEP6 was added
gene: REEP6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REEP6 were set to Retinitis pigmentosa 77, 617304 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, 218600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RDH12 Zornitza Stark gene: RDH12 was added
gene: RDH12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RD3 Zornitza Stark gene: RD3 was added
gene: RD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RCBTB1 Zornitza Stark gene: RCBTB1 was added
gene: RCBTB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RBM10 were set to TARP syndrome, 311900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RBCK1 Zornitza Stark gene: RBCK1 was added
gene: RBCK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2, 606744 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAX Zornitza Stark gene: RAX was added
gene: RAX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RARS Zornitza Stark gene: RARS was added
gene: RARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9, 616140 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence, 208150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAG2 Zornitza Stark gene: RAG2 was added
gene: RAG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG2 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAG1 Zornitza Stark gene: RAG1 was added
gene: RAG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG1 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAD50 Zornitza Stark gene: RAD50 was added
gene: RAD50 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, 613078 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, 614225 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB39B Zornitza Stark gene: RAB39B was added
gene: RAB39B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RAB39B were set to Mental retardation, X-linked 72, 300271 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB33B Zornitza Stark gene: RAB33B was added
gene: RAB33B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2, 615222 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2, 607624 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome, 201000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PYROXD1 Zornitza Stark gene: PYROXD1 was added
gene: PYROXD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PYCR2 Zornitza Stark gene: PYCR2 was added
gene: PYCR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10, 616420 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PYCR1 Zornitza Stark gene: PYCR1 was added
gene: PYCR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PXDN Zornitza Stark gene: PXDN was added
gene: PXDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type, 215045 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, 614023 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSMB8 Zornitza Stark gene: PSMB8 was added
gene: PSMB8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, 616038 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Dejerine-Sottas disease, 145900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRUNE1 Zornitza Stark gene: PRUNE1 was added
gene: PRUNE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PROS1 Zornitza Stark gene: PROS1 was added
gene: PROS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, 262600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PROC Zornitza Stark gene: PROC was added
gene: PROC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B, 612437 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRG4 Zornitza Stark gene: PRG4 was added
gene: PRG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRF1 Zornitza Stark gene: PRF1 was added
gene: PRF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRDM5 Zornitza Stark gene: PRDM5 was added
gene: PRDM5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PRDM12 Zornitza Stark gene: PRDM12 was added
gene: PRDM12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PPA2 Zornitza Stark gene: PPA2 was added
gene: PPA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive
Hereditary Spastic Paraplegia v0.74 PGAP1 Bryony Thompson Marked gene: PGAP1 as ready
Hereditary Spastic Paraplegia v0.74 PGAP1 Bryony Thompson Gene: pgap1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1, 613038 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POP1 Zornitza Stark gene: POP1 was added
gene: POP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, 617396 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Hereditary Spastic Paraplegia v0.74 PGAP1 Bryony Thompson Classified gene: PGAP1 as Red List (low evidence)
Hereditary Spastic Paraplegia v0.74 PGAP1 Bryony Thompson Gene: pgap1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMP Zornitza Stark gene: POMP was added
gene: POMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLR3B Zornitza Stark gene: POLR3B was added
gene: POLR3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Treacher Collins syndrome 3, 248390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POLA1 Zornitza Stark gene: POLA1 was added
gene: POLA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNPO Zornitza Stark gene: PNPO was added
gene: PNPO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNPLA6 Zornitza Stark gene: PNPLA6 was added
gene: PNPLA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome, 215470 (3)
Hereditary Spastic Paraplegia v0.73 PGAP1 Bryony Thompson reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Mental retardation, autosomal recessive MIM#42; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNP Zornitza Stark gene: PNP was added
gene: PNP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly, seizures, and developmental delay, 613402 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PMPCA Zornitza Stark gene: PMPCA was added
gene: PMPCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, 212065 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLPBP Zornitza Stark gene: PLPBP was added
gene: PLPBP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome 2, 609220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, type VI, 225400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLG Zornitza Stark gene: PLG was added
gene: PLG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLG were set to Plasminogen deficiency, type I, 217090 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLEC Zornitza Stark gene: PLEC was added
gene: PLEC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLCE1 Zornitza Stark gene: PLCE1 was added
gene: PLCE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to Nephrotic syndrome, type 3, 610725 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLAA Zornitza Stark gene: PLAA was added
gene: PLAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLAA were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency, 266200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIP5K1C Zornitza Stark gene: PIP5K1C was added
gene: PIP5K1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, 611369 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIH1D3 Zornitza Stark gene: PIH1D3 was added
gene: PIH1D3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGO Zornitza Stark gene: PIGO was added
gene: PIGO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGO were set to Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGN Zornitza Stark gene: PIGN was added
gene: PIGN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGL were set to CHIME syndrome, 280000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGG Zornitza Stark gene: PIGG was added
gene: PIGG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGG were set to Mental retardation, autosomal recessive 53, 616917 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHYH Zornitza Stark gene: PHYH was added
gene: PHYH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease, 266500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome1, 256520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHF8 Zornitza Stark gene: PHF8 was added
gene: PHF8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, 301900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM3 were set to Immunodeficiency 23, 615816 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, 614921 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGAP3 Zornitza Stark gene: PGAP3 was added
gene: PGAP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PGAP1 Zornitza Stark gene: PGAP1 was added
gene: PGAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP1 were set to Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII, 232800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 614882
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger), 614876
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger), 614883
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PEPD Zornitza Stark gene: PEPD was added
gene: PEPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to Prolidase deficiency, 170100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDE6C Zornitza Stark gene: PDE6C was added
gene: PDE6C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6C were set to Cone dystrophy 4, 613093 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PDE6B Zornitza Stark gene: PDE6B was added
gene: PDE6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDE6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Retinitis pigmentosa-40, 613801 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCYT1A Zornitza Stark gene: PCYT1A was added
gene: PCYT1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCSK1 Zornitza Stark gene: PCSK1 was added
gene: PCSK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCDH12 Zornitza Stark gene: PCDH12 was added
gene: PCDH12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH12 were set to Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PAPSS2 Zornitza Stark gene: PAPSS2 was added
gene: PAPSS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, 234200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 PAH Zornitza Stark gene: PAH was added
gene: PAH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to Phenylketonuria, 261600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, 610915 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OTUD6B Zornitza Stark gene: OTUD6B was added
gene: OTUD6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD6B were set to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5, 259720 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OSGEP Zornitza Stark gene: OSGEP was added
gene: OSGEP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, 613803 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, 224690 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPN1LW Zornitza Stark gene: OPN1LW was added
gene: OPN1LW was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPN1LW were set to Blue cone monochromacy, 303700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Behr syndrome, 210000 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OCA2 Zornitza Stark gene: OCA2 was added
gene: OCA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Albinism, brown oculocutaneous, 203200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome 2, 612921 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NYX Zornitza Stark gene: NYX was added
gene: NYX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUP93 Zornitza Stark gene: NUP93 was added
gene: NUP93 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, 271930 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUP107 Zornitza Stark gene: NUP107 was added
gene: NUP107 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP107 were set to Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NT5C2 Zornitza Stark gene: NT5C2 was added
gene: NT5C2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, 613162 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NSUN2 Zornitza Stark gene: NSUN2 was added
gene: NSUN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, 611091 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CK syndrome, 300831 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPR2 Zornitza Stark gene: NPR2 was added
gene: NPR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHS2 Zornitza Stark gene: NPHS2 was added
gene: NPHS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2, 600995 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHS1 Zornitza Stark gene: NPHS1 was added
gene: NPHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1, 256300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4, 606996 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4, 609583 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, 607625 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1, 257220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NNT Zornitza Stark gene: NNT was added
gene: NNT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, 614736 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NMNAT1 Zornitza Stark gene: NMNAT1 was added
gene: NMNAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9, 608553 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NLGN4X Zornitza Stark gene: NLGN4X was added
gene: NLGN4X was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NLGN4X were set to Mental retardation, X-linked, 300495 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NKX6-2 Zornitza Stark gene: NKX6-2 was added
gene: NKX6-2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NHS Zornitza Stark gene: NHS was added
gene: NHS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NHS were set to Cataract 40, X-linked, 302200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation, 615273 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NGF Zornitza Stark gene: NGF was added
gene: NGF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEXMIF Zornitza Stark gene: NEXMIF was added
gene: NEXMIF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NEXMIF were set to Mental retardation, X-linked 98, 300912 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type I, 256550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NEB Zornitza Stark gene: NEB was added
gene: NEB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to Nemaline myopathy 2, autosomal recessive, 256030 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Leigh syndrome, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Leigh syndrome, 256000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDRG1 Zornitza Stark gene: NDRG1 was added
gene: NDRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D, 601455 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDP were set to Norrie disease, 310600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NBAS Zornitza Stark gene: NBAS was added
gene: NBAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAXE Zornitza Stark gene: NAXE was added
gene: NAXE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NARS2 Zornitza Stark gene: NARS2 was added
gene: NARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NARS2 were set to Combined oxidative phosphorylation deficiency 24, 616239 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NANS Zornitza Stark gene: NANS was added
gene: NANS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NALCN Zornitza Stark gene: NALCN was added
gene: NALCN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NALCN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NALCN were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency, 237310 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Schindler disease, type I, 609241 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency, 300855 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYO5B Zornitza Stark gene: MYO5B was added
gene: MYO5B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5B were set to Microvillus inclusion disease, 251850 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MYD88 Zornitza Stark gene: MYD88 was added
gene: MYD88 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria, 610377 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTTP Zornitza Stark gene: MTTP was added
gene: MTTP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTMR2 Zornitza Stark gene: MTMR2 was added
gene: MTMR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTHFD1 Zornitza Stark gene: MTHFD1 was added
gene: MTHFD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MTFMT Zornitza Stark gene: MTFMT was added
gene: MTFMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MRE11 Zornitza Stark gene: MRE11 was added
gene: MRE11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder, 604391 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MRAP Zornitza Stark gene: MRAP was added
gene: MRAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, 607398 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPZ Zornitza Stark gene: MPZ was added
gene: MPZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPZ were set to Dejerine-Sottas disease, 145900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPLKIP Zornitza Stark gene: MPLKIP was added
gene: MPLKIP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, 602579 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MPDZ Zornitza Stark gene: MPDZ was added
gene: MPDZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDZ were set to Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MOCS2 Zornitza Stark gene: MOCS2 was added
gene: MOCS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B, 252160 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MOCS1 Zornitza Stark gene: MOCS1 was added
gene: MOCS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, 252150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, 251000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMP21 Zornitza Stark gene: MMP21 was added
gene: MMP21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP21 were set to Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMP2 Zornitza Stark gene: MMP2 was added
gene: MMP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency, 248360 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to McKusick-Kaufman syndrome, 236700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MICU1 Zornitza Stark gene: MICU1 was added
gene: MICU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome, 245150 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MGME1 Zornitza Stark gene: MGME1 was added
gene: MGME1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, 212066 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MFSD2A Zornitza Stark gene: MFSD2A was added
gene: MFSD2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD2A were set to Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MFN2 Zornitza Stark gene: MFN2 was added
gene: MFN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 METTL23 Zornitza Stark gene: METTL23 was added
gene: METTL23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MERTK Zornitza Stark gene: MERTK was added
gene: MERTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MERTK were set to Retinitis pigmentosa 38, 613862 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MEGF8 Zornitza Stark gene: MEGF8 was added
gene: MEGF8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to Carpenter syndrome 2, 614976 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MEGF10 Zornitza Stark gene: MEGF10 was added
gene: MEGF10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED23 Zornitza Stark gene: MED23 was added
gene: MED23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED23 were set to Mental retardation, autosomal recessive 18, 614249 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED17 Zornitza Stark gene: MED17 was added
gene: MED17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, 251200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCM4 Zornitza Stark gene: MCM4 was added
gene: MCM4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM4 were set to Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MCFD2 Zornitza Stark gene: MCFD2 was added
gene: MCFD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of, 613625 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MC2R Zornitza Stark gene: MC2R was added
gene: MC2R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MBOAT7 Zornitza Stark gene: MBOAT7 was added
gene: MBOAT7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MBOAT7 were set to Mental retardation, autosomal recessive 57, 617188 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC syndrome 1, 257920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MARS2 Zornitza Stark gene: MARS2 was added
gene: MARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MARS Zornitza Stark gene: MARS was added
gene: MARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS were set to Interstitial lung and liver disease, 615486 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAPKBP1 Zornitza Stark gene: MAPKBP1 was added
gene: MAPKBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, 617271 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAOA Zornitza Stark gene: MAOA was added
gene: MAOA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAOA were set to Brunner syndrome, 300615 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta, 248510 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MAN1B1 Zornitza Stark gene: MAN1B1 was added
gene: MAN1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN1B1 were set to Mental retardation, autosomal recessive 15, 614202 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 MALT1 Zornitza Stark gene: MALT1 was added
gene: MALT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MALT1 were set to Immunodeficiency 12, 615468 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LYRM7 Zornitza Stark gene: LYRM7 was added
gene: LYRM7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LTBP4 Zornitza Stark gene: LTBP4 was added
gene: LTBP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC, 613177 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP3 were set to Tooth agenesis, selective, 6, 613097 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRSAM1 Zornitza Stark gene: LRSAM1 was added
gene: LRSAM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19, 614935 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome, 259770 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome, 212780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRMDA Zornitza Stark gene: LRMDA was added
gene: LRMDA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII, 615179 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRIG2 Zornitza Stark gene: LRIG2 was added
gene: LRIG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIG2 were set to Urofacial syndrome 2, 615112 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LRAT Zornitza Stark gene: LRAT was added
gene: LRAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to Leber congenital amaurosis 14, 613341 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LPL Zornitza Stark gene: LPL was added
gene: LPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN2 were set to Majeed syndrome, 609628 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LPIN1 Zornitza Stark gene: LPIN1 was added
gene: LPIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10, 616165 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Restrictive dermopathy, lethal, 275210 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMBRD1 Zornitza Stark gene: LMBRD1 was added
gene: LMBRD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBR1 were set to Acheiropody, 200500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LMAN1 Zornitza Stark gene: LMAN1 was added
gene: LMAN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMAN1 were set to Combined factor V and VIII deficiency, 227300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIPT1 Zornitza Stark gene: LIPT1 was added
gene: LIPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency, 616299 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIPC Zornitza Stark gene: LIPC was added
gene: LIPC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPC were set to Hepatic lipase deficiency, 614025 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, 278000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LINS1 Zornitza Stark gene: LINS1 was added
gene: LINS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LINS1 were set to Mental retardation, autosomal recessive 27, 614340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to LIG4 syndrome, 606593 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LIAS Zornitza Stark gene: LIAS was added
gene: LIAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LGI4 Zornitza Stark gene: LGI4 was added
gene: LGI4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LGI4 were set to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LEP Zornitza Stark gene: LEP was added
gene: LEP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, 614962 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDLRAP1 Zornitza Stark gene: LDLRAP1 was added
gene: LDLRAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDLR Zornitza Stark gene: LDLR was added
gene: LDLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to LDL cholesterol level QTL2/Hypercholesterolemia, familial
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDHB Zornitza Stark gene: LDHB was added
gene: LDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHB were set to Lactate dehydrogenase-B deficiency, 614128 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LDHA Zornitza Stark gene: LDHA was added
gene: LDHA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHA were set to Glycogen storage disease XI, 612933 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, 245900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LCA5 Zornitza Stark gene: LCA5 was added
gene: LCA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia, 215140 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4, 615300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to ?Infantile liver failure syndrome 1
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARP7 were set to Alazami syndrome, 615071 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMC3 Zornitza Stark gene: LAMC3 was added
gene: LAMC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC3 were set to Cortical malformations, occipital, 614115 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome, 609049 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, 615960 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 L2HGDH Zornitza Stark gene: L2HGDH was added
gene: L2HGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to MASA syndrome, 303350 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KY Zornitza Stark gene: KY was added
gene: KY was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT85 Zornitza Stark gene: KRT85 was added
gene: KRT85 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT8 Zornitza Stark gene: KRT8 was added
gene: KRT8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic, 215600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT5 Zornitza Stark gene: KRT5 was added
gene: KRT5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KRT10 Zornitza Stark gene: KRT10 was added
gene: KRT10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to Mental retardation, autosomal recessive 41, 615637 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KNL1 Zornitza Stark gene: KNL1 was added
gene: KNL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive, 604321 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KLHL7 Zornitza Stark gene: KLHL7 was added
gene: KLHL7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL7 were set to PERCHING syndrome, 617055 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy 9, 615731 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, 615348 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome, 609460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, 614120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF1C Zornitza Stark gene: KIF1C was added
gene: KIF1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, 611302 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive, 610357 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIF14 Zornitza Stark gene: KIF14 was added
gene: KIF14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, 617914 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KDM5C Zornitza Stark gene: KDM5C was added
gene: KDM5C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNV2 Zornitza Stark gene: KCNV2 was added
gene: KCNV2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNV2 were set to Retinal cone dystrophy 3B, 610356 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome, 220400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to SESAME syndrome, 612780 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, 241200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KCNE1 Zornitza Stark gene: KCNE1 was added
gene: KCNE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, 616212 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Naxos disease, 601214 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JAM3 Zornitza Stark gene: JAM3 was added
gene: JAM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JAK3 Zornitza Stark gene: JAK3 was added
gene: JAK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia, 243500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITPR1 Zornitza Stark gene: ITPR1 was added
gene: ITPR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, 613011 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, 116920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ITCH Zornitza Stark gene: ITCH was added
gene: ITCH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ISCA2 Zornitza Stark gene: ISCA2 was added
gene: ISCA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IQSEC2 Zornitza Stark gene: IQSEC2 was added
gene: IQSEC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5, 609254 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile, 602088 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Leprechaunism, 246200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INPPL1 Zornitza Stark gene: INPPL1 was added
gene: INPPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to Opsismodysplasia, 258480 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INPP5K Zornitza Stark gene: INPP5K was added
gene: INPP5K was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IMPG2 Zornitza Stark gene: IMPG2 was added
gene: IMPG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IMPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, 613581 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL7R Zornitza Stark gene: IL7R was added
gene: IL7R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, 612852 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL1RAPL1 Zornitza Stark gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL17RA Zornitza Stark gene: IL17RA was added
gene: IL17RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL17RA were set to Immunodeficiency 51, 613953 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL12RB1 Zornitza Stark gene: IL12RB1 was added
gene: IL12RB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL12RB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL12RB1 were set to Immunodeficiency 30, 614891 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL11RA Zornitza Stark gene: IL11RA was added
gene: IL11RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL11RA were set to Craniosynostosis and dental anomalies, 614188 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL10RA were set to Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IKBKB Zornitza Stark gene: IKBKB was added
gene: IKBKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI, 604320 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGHM Zornitza Stark gene: IGHM was added
gene: IGHM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHM were set to Agammaglobulinemia 1, 601495 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGFBP7 Zornitza Stark gene: IGFBP7 was added
gene: IGFBP7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGFBP7 were set to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IGF1R Zornitza Stark gene: IGF1R was added
gene: IGF1R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGF1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, 270450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1, 218330 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFNGR2 Zornitza Stark gene: IFNGR2 was added
gene: IFNGR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFNGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR2 were set to Immunodeficiency 28, mycobacteriosis, 614889 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IFNGR1 Zornitza Stark gene: IFNGR1 was added
gene: IFNGR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFNGR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, 607014 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1, 607594 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IBA57 Zornitza Stark gene: IBA57 was added
gene: IBA57 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS2 were set to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
Mackenzie's Mission_Reproductive Carrier Screening v0.0 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS were set to Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Ciliary dyskinesia, primary, 5, 608647 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to Mental retardation, X-linked syndromic, Turner type, 300706 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, type 1, 255800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD3B7 Zornitza Stark gene: HSD3B7 was added
gene: HSD3B7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1, 607765 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD3B2 Zornitza Stark gene: HSD3B2 was added
gene: HSD3B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B2 were set to 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPSE2 Zornitza Stark gene: HPSE2 was added
gene: HPSE2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPSE2 were set to Urofacial syndrome 1, 236730 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, 614075 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5, 614074 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, 614072 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, 203300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, 300322 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPGD Zornitza Stark gene: HPGD was added
gene: HPGD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to Cranioosteoarthropathy, 259100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HPD Zornitza Stark gene: HPD was added
gene: HPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HMGCS2 Zornitza Stark gene: HMGCS2 was added
gene: HMGCS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HINT1 Zornitza Stark gene: HINT1 was added
gene: HINT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease, 272800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HESX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Septooptic dysplasia, 182230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HES7 Zornitza Stark gene: HES7 was added
gene: HES7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HERC2 were set to Mental retardation, autosomal recessive 38, 615516 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HEPACAM Zornitza Stark gene: HEPACAM was added
gene: HEPACAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEPACAM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBB were set to Thalassemias, beta-, 613985 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B, 613313 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Fatty liver, acute, of pregnancy, 609016 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 HACE1 Zornitza Stark gene: HACE1 was added
gene: HACE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GYS2 Zornitza Stark gene: GYS2 was added
gene: GYS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS2 were set to Glycogen storage disease 0, liver, 240600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUCY2D Zornitza Stark gene: GUCY2D was added
gene: GUCY2D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY2D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2D were set to Leber congenital amaurosis 1, 204000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to Meconium ileus, 614665 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GUCY1A3 Zornitza Stark gene: GUCY1A3 was added
gene: GUCY1A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia, 615750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23, 616198 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GRM1 Zornitza Stark gene: GRM1 was added
gene: GRM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPT2 Zornitza Stark gene: GPT2 was added
gene: GPT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49, 616281 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome, 604213 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPR179 Zornitza Stark gene: GPR179 was added
gene: GPR179 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPHN Zornitza Stark gene: GPHN was added
gene: GPHN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C, 615501 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1, 258315 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GPAA1 Zornitza Stark gene: GPAA1 was added
gene: GPAA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GOSR2 Zornitza Stark gene: GOSR2 was added
gene: GOSR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, 231070 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma, 252605 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta, 252600 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Inclusion body myopathy, autosomal recessive, 600737 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GNAT2 Zornitza Stark gene: GNAT2 was added
gene: GNAT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNAT2 were set to Achromatopsia-4, 613856 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome, 615510 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GM2A Zornitza Stark gene: GM2A was added
gene: GM2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, 272750 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLYCTK Zornitza Stark gene: GLYCTK was added
gene: GLYCTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLYCTK were set to D-glyceric aciduria, 220120 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLDN Zornitza Stark gene: GLDN was added
gene: GLDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to Glycine encephalopathy, 605899 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease, 301500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GK Zornitza Stark gene: GK was added
gene: GK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GK were set to Glycerol kinase deficiency, 307030 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to Hypoplastic left heart syndrome 1, 241550 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Laron dwarfism, 262500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GFPT1 Zornitza Stark gene: GFPT1 was added
gene: GFPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, 610542 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDI1 Zornitza Stark gene: GDI1 was added
gene: GDI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GDI1 were set to Mental retardation, X-linked 41, 300849 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDF5 Zornitza Stark gene: GDF5 was added
gene: GDF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type, 200700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF1 were set to Right atrial isomerism, 208530 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GDAP1 Zornitza Stark gene: GDAP1 was added
gene: GDAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, 231670 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease, perinatal lethal, 608013 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, 612718 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAS8 Zornitza Stark gene: GAS8 was added
gene: GAS8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAS8 were set to Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAN Zornitza Stark gene: GAN was added
gene: GAN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy-1, 256850 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAMT Zornitza Stark gene: GAMT was added
gene: GAMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, 612736 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosemia, 230400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, 245200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II, 232300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome, 612541 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 G6PC Zornitza Stark gene: G6PC was added
gene: G6PC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FYCO1 Zornitza Stark gene: FYCO1 was added
gene: FYCO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FYCO1 were set to Cataract 18, autosomal recessive, 610019 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis, 230000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FTSJ1 Zornitza Stark gene: FTSJ1 was added
gene: FTSJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FTSJ1 were set to Mental retardation, X-linked 9, 309549 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FTO Zornitza Stark gene: FTO was added
gene: FTO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTO were set to Growth retardation, developmental delay, coarse facies, and early death, 612938 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency, 229100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FRRS1L Zornitza Stark gene: FRRS1L was added
gene: FRRS1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome, 219000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome, 219000 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, 252010 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE3 were set to Aphakia, congenital primary, 610256 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FMR1 Zornitza Stark gene: FMR1 was added
gene: FMR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FMR1 were set to Fragile X syndrome
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLVCR2 Zornitza Stark gene: FLVCR2 was added
gene: FLVCR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLVCR1 Zornitza Stark gene: FLVCR1 was added
gene: FLVCR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLNB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to Spondylocarpotarsal synostosis syndrome, 272460 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKBP14 Zornitza Stark gene: FKBP14 was added
gene: FKBP14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Bruck syndrome 1, 259450 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, 216340 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumarase deficiency, 606812 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGG Zornitza Stark gene: FGG was added
gene: FGG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGG were set to Afibrinogenemia, congenital, 202400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGD4 Zornitza Stark gene: FGD4 was added
gene: FGD4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease, type 4H, 609311 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGB Zornitza Stark gene: FGB was added
gene: FGB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGB were set to Afibrinogenemia, congenital, 202400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FGA Zornitza Stark gene: FGA was added
gene: FGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGA were set to Afibrinogenemia, congenital, 202400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, 612840 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FERMT1 Zornitza Stark gene: FERMT1 was added
gene: FERMT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT1 were set to Kindler syndrome, 173650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBXO7 Zornitza Stark gene: FBXO7 was added
gene: FBXO7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBXL4 Zornitza Stark gene: FBXL4 was added
gene: FBXL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBP1 Zornitza Stark gene: FBP1 was added
gene: FBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency, 229700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA, 219100 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, 614082 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, 227645 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, 227650 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome, 259775 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAM161A Zornitza Stark gene: FAM161A was added
gene: FAM161A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, 606068 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating, 5, 610532 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 FA2H Zornitza Stark gene: FA2H was added
gene: FA2H was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, 612319 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F9 Zornitza Stark gene: F9 was added
gene: F9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F9 were set to Hemophilia B, 306900 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F8 Zornitza Stark gene: F8 was added
gene: F8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F8 were set to Hemophilia A, 306700 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F7 Zornitza Stark gene: F7 was added
gene: F7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F7 were set to Factor VII deficiency, 227500 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F5 Zornitza Stark gene: F5 was added
gene: F5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F5 were set to Factor V deficiency, 227400 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 F2 Zornitza Stark gene: F2 was added
gene: F2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F2 were set to Dysprothrombinemia, 613679 (3)
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive
Mackenzie's Mission_Reproductive Carrier Screening v0.0 EXOSC8 Zornitza Stark gene: EXOSC8 was added
gene: EXOSC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, 616081 (3)