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Fetal anomalies v0.578 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Fetal anomalies v0.578 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.578 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from PORENCEPHALY 1 to Brain small vessel disease with or without ocular anomalies, MIM#175780; Porenecphaly
Fetal anomalies v0.577 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to 30266093; 32732225; 30712878
Fetal anomalies v0.576 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.575 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Fetal anomalies v0.575 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.575 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from HP:0006496; HP:0002126; HP:0001883 to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Ehlers-Danlos syndrome, vascular type, MIM# 130050
Fetal anomalies v0.574 COL3A1 Zornitza Stark Publications for gene: COL3A1 were set to 28742248; 24922459; PMID: 28258187; 27168972; 25205403
Fetal anomalies v0.573 COL3A1 Zornitza Stark changed review comment from: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described.

Clubfoot is a feature of EDS vascular type.; to: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described.

Talipes is a feature of EDS vascular type.
Fetal anomalies v0.573 COL3A1 Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28742248, 19455184, 25205403; Phenotypes: Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343, Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.573 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Fetal anomalies v0.573 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.573 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from KNIEST DYSPLASIA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; ACHONDROGENESIS TYPE 2; SPONDYLOPERIPHERAL DYSPLASIA to Collagenopathy type 2 alpha 1, MONDO:0022800
Fetal anomalies v0.572 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Collagenopathy type 2 alpha 1, MONDO:0022800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.572 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Fetal anomalies v0.572 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.572 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from Osteogenesis imperfecta; Ehlers-Danlos syndrome to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Fetal anomalies v0.571 COL1A2 Zornitza Stark edited their review of gene: COL1A2: Added comment: Well established gene-disease associations, likely representing a spectrum. The more severe phenotypes can present antenatally particularly with skeletal features.; Changed rating: GREEN; Changed phenotypes: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120, Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821, Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320, Osteogenesis imperfecta, type II, MIM# 166210, Osteogenesis imperfecta, type III, MIM# 259420, Osteogenesis imperfecta, type IV, MIM# 166220
Fetal anomalies v0.571 COL1A2 Zornitza Stark Deleted their comment
Fetal anomalies v0.571 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
Fetal anomalies v0.571 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.571 COL1A1 Zornitza Stark Phenotypes for gene: COL1A1 were changed from OSTEOGENESIS IMPERFECTA TYPE III; CAFFEY DISEASE; OSTEOGENESIS IMPERFECTA TYPE I; OSTEOGENESIS IMPERFECTA TYPE IIA; EHLERS-DANLOS SYNDROME TYPE VIIA; COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA; EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED to Caffey disease, MIM#114000; Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060; Osteogenesis imperfecta, type I, MIM#166200; Osteogenesis imperfecta, type II, MIM#166210; Osteogenesis imperfecta, type III, MIM#259420; Osteogenesis imperfecta, type IV, MIM#166220
Fetal anomalies v0.570 COL1A1 Zornitza Stark Publications for gene: COL1A1 were set to
Fetal anomalies v0.569 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Fetal anomalies v0.569 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.569 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I to Knobloch syndrome, type 1 MIM# 267750
Fetal anomalies v0.568 COL18A1 Zornitza Stark Publications for gene: COL18A1 were set to
Fetal anomalies v0.567 COL18A1 Zornitza Stark edited their review of gene: COL18A1: Changed rating: GREEN
Fetal anomalies v0.567 COL18A1 Zornitza Stark Deleted their comment
Fetal anomalies v0.567 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Fetal anomalies v0.567 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.567 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 13; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; WEISSENBACHER-ZWEYMUELLER SYNDROME; STICKLER SYNDROME TYPE 3; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 to Fibrochondrogenesis 2, MIM# 614524; Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150
Fetal anomalies v0.566 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 2, MIM# 614524, Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.566 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Fetal anomalies v0.566 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.566 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from FIBROCHONDROGENESIS; STICKLER SYNDROME, TYPE II to Fibrochondrogenesis 1, MIM# 228520; Marshall syndrome, MIM# 154780
Fetal anomalies v0.565 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 1, MIM# 228520, Marshall syndrome, MIM# 154780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.565 COL10A1 Zornitza Stark Marked gene: COL10A1 as ready
Fetal anomalies v0.565 COL10A1 Zornitza Stark Gene: col10a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.565 COL10A1 Zornitza Stark Phenotypes for gene: COL10A1 were changed from SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA to Metaphyseal chondrodysplasia, Schmid type, MIM#156500
Fetal anomalies v0.564 COL10A1 Zornitza Stark Publications for gene: COL10A1 were set to
Fetal anomalies v0.563 COL10A1 Zornitza Stark Mode of inheritance for gene: COL10A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.562 COL10A1 Zornitza Stark reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15880705, 31633898; Phenotypes: Metaphyseal chondrodysplasia, Schmid type, MIM#156500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.562 COG8 Zornitza Stark Marked gene: COG8 as ready
Fetal anomalies v0.562 COG8 Zornitza Stark Gene: cog8 has been classified as Green List (High Evidence).
Fetal anomalies v0.562 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from COG8-CDG to Congenital disorder of glycosylation, type IIh, MIM# 611182
Fetal anomalies v0.561 COG8 Zornitza Stark Publications for gene: COG8 were set to 30690882
Fetal anomalies v0.560 COG7 Zornitza Stark Marked gene: COG7 as ready
Fetal anomalies v0.560 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Fetal anomalies v0.560 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from COG7-CDG to Congenital disorder of glycosylation, type IIe , MIM#608779
Fetal anomalies v0.559 COG7 Zornitza Stark Publications for gene: COG7 were set to
Fetal anomalies v0.558 COG7 Zornitza Stark changed review comment from: CDG IIe is caused by variants that impair the integrity of the conserved oligomeric Golgi (COG) complex and alter Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.

Three families reported, IVS1+4A-C variant is recurrent, supportive functional data.; to: CDG IIe is caused by variants that impair the integrity of the conserved oligomeric Golgi (COG) complex and alter Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.

Three families reported, IVS1+4A-C variant is recurrent, supportive functional data.

IUGR is a feature.
Fetal anomalies v0.558 COG4 Zornitza Stark Marked gene: COG4 as ready
Fetal anomalies v0.558 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Fetal anomalies v0.558 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from COG4-CDG; Saul-Wilson syndrome, 618150 to Congenital disorder of glycosylation, type IIj 613489; Saul-Wilson syndrome, MIM #618150
Fetal anomalies v0.557 COG4 Zornitza Stark Publications for gene: COG4 were set to 30290151
Fetal anomalies v0.556 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.555 COG4 Zornitza Stark edited their review of gene: COG4: Changed phenotypes: Congenital disorder of glycosylation, type IIj 613489, Saul-Wilson syndrome, OMIM #618150; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.555 COG4 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.; to: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.

Saul-Wilson syndrome is associated with mono-allelic variants: skeletal dysplasia, including prenatal findings.
Fetal anomalies v0.555 COG4 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with CDG.; to: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.
Mendeliome v0.9779 COG1 Zornitza Stark Marked gene: COG1 as ready
Mendeliome v0.9779 COG1 Zornitza Stark Gene: cog1 has been classified as Green List (High Evidence).
Mendeliome v0.9779 COG1 Zornitza Stark Phenotypes for gene: COG1 were changed from to Congenital disorder of glycosylation, type IIg, MIM# 611209
Mendeliome v0.9778 COG1 Zornitza Stark Publications for gene: COG1 were set to
Mendeliome v0.9777 COG1 Zornitza Stark Mode of inheritance for gene: COG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9776 COG1 Zornitza Stark reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16537452, 19008299, 17904886, 11980916; Phenotypes: Congenital disorder of glycosylation, type IIg, MIM# 611209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.555 COG1 Zornitza Stark Marked gene: COG1 as ready
Fetal anomalies v0.555 COG1 Zornitza Stark Gene: cog1 has been classified as Green List (High Evidence).
Fetal anomalies v0.555 COG1 Zornitza Stark Phenotypes for gene: COG1 were changed from COG1-CDG to Congenital disorder of glycosylation, type IIg, MIM# 611209
Fetal anomalies v0.554 COG1 Zornitza Stark Publications for gene: COG1 were set to
Fetal anomalies v0.553 COG1 Zornitza Stark changed review comment from: Two unrelated families and supportive functional data.; to: Two unrelated families and supportive functional data. IUGR and congenital anomalies are a feature.
Fetal anomalies v0.553 COASY Zornitza Stark Marked gene: COASY as ready
Fetal anomalies v0.553 COASY Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.553 COASY Zornitza Stark Phenotypes for gene: COASY were changed from NEURODEGENERATION WITH BRAIN IRON ACCUMULATION to Pontocerebellar hypoplasia; microcephaly; arthrogryposis
Fetal anomalies v0.552 COASY Zornitza Stark Publications for gene: COASY were set to
Fetal anomalies v0.551 COASY Zornitza Stark changed review comment from: Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis. Note gene is also associated with NBIA.
Sources: Expert list; to: Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis.

Note gene is also associated with NBIA but this presents postnatally.
Sources: Expert list
Fetal anomalies v0.551 COASY Zornitza Stark Classified gene: COASY as Amber List (moderate evidence)
Fetal anomalies v0.551 COASY Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.550 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Fetal anomalies v0.550 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.550 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from ETHYLMALONIC ENCEPHALOPATHY to Ethylmalonic encephalopathy, MIM# 602473
Fetal anomalies v0.549 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy, MIM# 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v1.3 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Fatty Acid Oxidation Defects v1.3 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v1.3 ETHE1 Zornitza Stark Classified gene: ETHE1 as Green List (high evidence)
Fatty Acid Oxidation Defects v1.3 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v1.2 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Fatty Acid Oxidation Defects. Sources: Expert Review
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETHE1 were set to 18593870
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, MIM# 602473
Review for gene: ETHE1 was set to GREEN
Added comment: Well established gene-disease association.

The disorder is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Brain MRI shows necrotic lesions in deep gray matter structures.

Although not a FAO disorder, included on this panel as the initial metabolic findings are often suggestive of MADD or potentially a riboflavin transporter defect.
Sources: Expert Review
Mendeliome v0.9776 NEBL Bryony Thompson Classified gene: NEBL as Amber List (moderate evidence)
Mendeliome v0.9776 NEBL Bryony Thompson Added comment: Comment on list classification: Limited gene-disease vailidity, Classification - 09/25/2020 by ClinGen Dilated Cardiomyopathy GCEP. Evidence Summary: NEBL was evaluated for autosomal dominant dilated cardiomyopathy (DCM). Human genetic evidence supporting this gene-disease relationship includes case-level data. Arimura and colleagues (2000, PMID: 11140941) analyzed 83 DCM patients and 311 healthy controls, identifying 4 missense variants of unknown significance (VUSs) in 4 DCM cases. High minor allele frequencies (MAFs) and lack of segregation excluded these variants as evidence. Purevjav and colleagues (2010, PMID: 20951326) investigated a total of 260 DCM patients and 300 unrelated ethnic matched controls by direct DNA sequencing. Authors identified 4 missense VUSs. One of these variants (Q128R) was downgraded in level of evidence due to the lack of segregation. The other 3 variants were not scored because of their MAF. Perrot and colleagues (2016, PMID: 27186169) investigated a total of 389 patients with DCM, HCM, or LVNC, 320 Caucasian sex-matched controls and 192 Caucasian sex-matched blood donors and identified 3 missense VUSs in 4 families. One of these variants was also carried by healthy relatives and therefore was excluded, however this may be explained by reduced penetrance. The 2 other variants lacked segregation as well and therefore were also excluded. In addition, this gene-disease association is supported by animal models. Mastronotaro and colleagues (2015, PMID: 25987543) created a NEBL knockout mice that exhibited normal cardiac function up to 9 months of age but after 2 weeks of transaortic constriction (TAC), these mice showed Z-line widening since the age of 5 months and upregulation of cardiac stress genes (basal and after TAC) However, absence of clinical DCM features in KO-NEBL mice as well as Western Blot analysis which contradicted previous findings by showing a similar protein expression between knockout and wild-type mice, excluding it as evidence. Purevjav and colleagues (2010, PMID: 20951326) generated a transgenic mouse overexpressing WT or mutant NEBL under the control of the α-MyHC promoter (4 variants were tested). Mice overexpressing p.K60N or p.Q128R variants died within 1 year because of severe heart enlargement and heart failure. Mice overexpressing p.G202R or p.A592E were born and developed normally but after 6 months displayed reduced stress tolerance, cardiac enlargement due to left ventricle dilation, myocyte disarray, and interstitial cell infiltration. In summary, there is limited evidence to support this gene-disease relationship. More evidence is needed to support the relationship of NEBL and autosomal dominant DCM. This classification was approved by the ClinGen Dilated Cardiomyopathy Working Group on October 11, 2019 (SOP Version 7). Gene Clinical Validity Standard Operating Procedures (SOP) - SOP7
Mendeliome v0.9776 NEBL Bryony Thompson Gene: nebl has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.158 NEBL Bryony Thompson Classified gene: NEBL as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v0.158 NEBL Bryony Thompson Added comment: Comment on list classification: Limited gene-disease vailidity, Classification - 09/25/2020 by ClinGen Dilated Cardiomyopathy GCEP. Evidence Summary: NEBL was evaluated for autosomal dominant dilated cardiomyopathy (DCM). Human genetic evidence supporting this gene-disease relationship includes case-level data. Arimura and colleagues (2000, PMID: 11140941) analyzed 83 DCM patients and 311 healthy controls, identifying 4 missense variants of unknown significance (VUSs) in 4 DCM cases. High minor allele frequencies (MAFs) and lack of segregation excluded these variants as evidence. Purevjav and colleagues (2010, PMID: 20951326) investigated a total of 260 DCM patients and 300 unrelated ethnic matched controls by direct DNA sequencing. Authors identified 4 missense VUSs. One of these variants (Q128R) was downgraded in level of evidence due to the lack of segregation. The other 3 variants were not scored because of their MAF. Perrot and colleagues (2016, PMID: 27186169) investigated a total of 389 patients with DCM, HCM, or LVNC, 320 Caucasian sex-matched controls and 192 Caucasian sex-matched blood donors and identified 3 missense VUSs in 4 families. One of these variants was also carried by healthy relatives and therefore was excluded, however this may be explained by reduced penetrance. The 2 other variants lacked segregation as well and therefore were also excluded. In addition, this gene-disease association is supported by animal models. Mastronotaro and colleagues (2015, PMID: 25987543) created a NEBL knockout mice that exhibited normal cardiac function up to 9 months of age but after 2 weeks of transaortic constriction (TAC), these mice showed Z-line widening since the age of 5 months and upregulation of cardiac stress genes (basal and after TAC) However, absence of clinical DCM features in KO-NEBL mice as well as Western Blot analysis which contradicted previous findings by showing a similar protein expression between knockout and wild-type mice, excluding it as evidence. Purevjav and colleagues (2010, PMID: 20951326) generated a transgenic mouse overexpressing WT or mutant NEBL under the control of the α-MyHC promoter (4 variants were tested). Mice overexpressing p.K60N or p.Q128R variants died within 1 year because of severe heart enlargement and heart failure. Mice overexpressing p.G202R or p.A592E were born and developed normally but after 6 months displayed reduced stress tolerance, cardiac enlargement due to left ventricle dilation, myocyte disarray, and interstitial cell infiltration. In summary, there is limited evidence to support this gene-disease relationship. More evidence is needed to support the relationship of NEBL and autosomal dominant DCM. This classification was approved by the ClinGen Dilated Cardiomyopathy Working Group on October 11, 2019 (SOP Version 7). Gene Clinical Validity Standard Operating Procedures (SOP) - SOP7
Hypertrophic cardiomyopathy v0.158 NEBL Bryony Thompson Gene: nebl has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v1.5 NEBL Bryony Thompson Classified gene: NEBL as Amber List (moderate evidence)
Dilated Cardiomyopathy v1.5 NEBL Bryony Thompson Added comment: Comment on list classification: Limited gene-disease vailidity, Classification - 09/25/2020 by ClinGen Dilated Cardiomyopathy GCEP. Evidence Summary: NEBL was evaluated for autosomal dominant dilated cardiomyopathy (DCM). Human genetic evidence supporting this gene-disease relationship includes case-level data. Arimura and colleagues (2000, PMID: 11140941) analyzed 83 DCM patients and 311 healthy controls, identifying 4 missense variants of unknown significance (VUSs) in 4 DCM cases. High minor allele frequencies (MAFs) and lack of segregation excluded these variants as evidence. Purevjav and colleagues (2010, PMID: 20951326) investigated a total of 260 DCM patients and 300 unrelated ethnic matched controls by direct DNA sequencing. Authors identified 4 missense VUSs. One of these variants (Q128R) was downgraded in level of evidence due to the lack of segregation. The other 3 variants were not scored because of their MAF. Perrot and colleagues (2016, PMID: 27186169) investigated a total of 389 patients with DCM, HCM, or LVNC, 320 Caucasian sex-matched controls and 192 Caucasian sex-matched blood donors and identified 3 missense VUSs in 4 families. One of these variants was also carried by healthy relatives and therefore was excluded, however this may be explained by reduced penetrance. The 2 other variants lacked segregation as well and therefore were also excluded. In addition, this gene-disease association is supported by animal models. Mastronotaro and colleagues (2015, PMID: 25987543) created a NEBL knockout mice that exhibited normal cardiac function up to 9 months of age but after 2 weeks of transaortic constriction (TAC), these mice showed Z-line widening since the age of 5 months and upregulation of cardiac stress genes (basal and after TAC) However, absence of clinical DCM features in KO-NEBL mice as well as Western Blot analysis which contradicted previous findings by showing a similar protein expression between knockout and wild-type mice, excluding it as evidence. Purevjav and colleagues (2010, PMID: 20951326) generated a transgenic mouse overexpressing WT or mutant NEBL under the control of the α-MyHC promoter (4 variants were tested). Mice overexpressing p.K60N or p.Q128R variants died within 1 year because of severe heart enlargement and heart failure. Mice overexpressing p.G202R or p.A592E were born and developed normally but after 6 months displayed reduced stress tolerance, cardiac enlargement due to left ventricle dilation, myocyte disarray, and interstitial cell infiltration. In summary, there is limited evidence to support this gene-disease relationship. More evidence is needed to support the relationship of NEBL and autosomal dominant DCM. This classification was approved by the ClinGen Dilated Cardiomyopathy Working Group on October 11, 2019 (SOP Version 7).
Gene Clinical Validity Standard Operating Procedures (SOP) - SOP7
Dilated Cardiomyopathy v1.5 NEBL Bryony Thompson Gene: nebl has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.101 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Deafness_IsolatedAndComplex v1.101 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.101 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.101 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.100 SPATA5L1 Zornitza Stark gene: SPATA5L1 was added
gene: SPATA5L1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Deafness, autosomal recessive 119, MIM# 619615
Review for gene: SPATA5L1 was set to GREEN
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, compound het with another variant.
Sources: Literature
Dystonia and Chorea v0.198 SPATA5L1 Zornitza Stark Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
Dystonia and Chorea v0.197 SPATA5L1 Zornitza Stark reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4292 SPATA5L1 Zornitza Stark Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
Intellectual disability syndromic and non-syndromic v0.4291 SPATA5L1 Zornitza Stark reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1395 SPATA5L1 Zornitza Stark Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
Genetic Epilepsy v0.1394 SPATA5L1 Zornitza Stark reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.71 SPATA5L1 Zornitza Stark Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
Microcephaly v1.70 SPATA5L1 Zornitza Stark reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.19 SPATA5L1 Zornitza Stark Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
Cerebral Palsy v1.18 SPATA5L1 Zornitza Stark reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9775 SPATA5L1 Zornitza Stark Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Deafness, autosomal recessive 119, MIM# 619615
Mendeliome v0.9774 SPATA5L1 Zornitza Stark changed review comment from: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, either hmz or compound het with another variant.; to: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, compound het with another variant.
Mendeliome v0.9774 SPATA5L1 Zornitza Stark edited their review of gene: SPATA5L1: Added comment: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, either hmz or compound het with another variant.; Changed publications: 34626583; Changed phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616, Deafness, autosomal recessive 119, MIM# 619615
Mendeliome v0.9774 SPATA5L1 Zornitza Stark reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.145 MEIS2 Zornitza Stark Marked gene: MEIS2 as ready
Congenital Heart Defect v0.145 MEIS2 Zornitza Stark Gene: meis2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.145 MEIS2 Zornitza Stark Phenotypes for gene: MEIS2 were changed from to Cleft palate, cardiac defects, and mental retardation (MIM#600987)
Congenital Heart Defect v0.144 MEIS2 Zornitza Stark Publications for gene: MEIS2 were set to
Congenital Heart Defect v0.143 MEIS2 Zornitza Stark Mode of inheritance for gene: MEIS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.142 MEIS2 Zornitza Stark reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427397, 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.549 MEIS2 Zornitza Stark Marked gene: MEIS2 as ready
Fetal anomalies v0.549 MEIS2 Zornitza Stark Gene: meis2 has been classified as Green List (High Evidence).
Fetal anomalies v0.549 MEIS2 Zornitza Stark Publications for gene: MEIS2 were set to 30055086; 27225850; 25712757; 24678003; 30291340
Fetal anomalies v0.548 MEIS2 Zornitza Stark Mode of inheritance for gene: MEIS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.547 MEIS2 Zornitza Stark Classified gene: MEIS2 as Green List (high evidence)
Fetal anomalies v0.547 MEIS2 Zornitza Stark Gene: meis2 has been classified as Green List (High Evidence).
Fetal anomalies v0.546 MEIS2 Zornitza Stark reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427397, 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4291 MEIS2 Zornitza Stark Marked gene: MEIS2 as ready
Intellectual disability syndromic and non-syndromic v0.4291 MEIS2 Zornitza Stark Gene: meis2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4291 MEIS2 Zornitza Stark Phenotypes for gene: MEIS2 were changed from to Cleft palate, cardiac defects, and mental retardation (MIM#600987)
Intellectual disability syndromic and non-syndromic v0.4290 MEIS2 Zornitza Stark Publications for gene: MEIS2 were set to
Intellectual disability syndromic and non-syndromic v0.4289 MEIS2 Zornitza Stark Mode of inheritance for gene: MEIS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4288 MEIS2 Zornitza Stark reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427397, 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9774 MEIS2 Zornitza Stark Marked gene: MEIS2 as ready
Mendeliome v0.9774 MEIS2 Zornitza Stark Gene: meis2 has been classified as Green List (High Evidence).
Mendeliome v0.9774 MEIS2 Zornitza Stark Phenotypes for gene: MEIS2 were changed from to Cleft palate, cardiac defects, and mental retardation (MIM#600987)
Mendeliome v0.9773 MEIS2 Zornitza Stark Publications for gene: MEIS2 were set to
Mendeliome v0.9772 MEIS2 Zornitza Stark Mode of inheritance for gene: MEIS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9771 LAMA4 Zornitza Stark Marked gene: LAMA4 as ready
Mendeliome v0.9771 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Mendeliome v0.9771 LAMA4 Zornitza Stark Phenotypes for gene: LAMA4 were changed from to Cardiomyopathy, dilated, 1JJ (MIM#615235)
Mendeliome v0.9770 LAMA4 Zornitza Stark Publications for gene: LAMA4 were set to
Mendeliome v0.9769 LAMA4 Zornitza Stark Mode of inheritance for gene: LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9768 LAMA4 Zornitza Stark Classified gene: LAMA4 as Red List (low evidence)
Mendeliome v0.9768 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Mendeliome v0.9767 LAMA4 Zornitza Stark Tag disputed tag was added to gene: LAMA4.
Mendeliome v0.9767 LAMA4 Zornitza Stark reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: None; Publications: 17646580, 26406308, 27532257; Phenotypes: Cardiomyopathy, dilated, 1JJ (MIM#615235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.546 DSTYK Zornitza Stark Marked gene: DSTYK as ready
Fetal anomalies v0.546 DSTYK Zornitza Stark Gene: dstyk has been classified as Red List (Low Evidence).
Fetal anomalies v0.546 DSTYK Zornitza Stark Phenotypes for gene: DSTYK were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 to Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Spastic paraplegia 23, MIM# 270750
Fetal anomalies v0.545 DSTYK Zornitza Stark Publications for gene: DSTYK were set to
Fetal anomalies v0.544 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.543 DSTYK Zornitza Stark Classified gene: DSTYK as Red List (low evidence)
Fetal anomalies v0.543 DSTYK Zornitza Stark Gene: dstyk has been classified as Red List (Low Evidence).
Fetal anomalies v0.542 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9767 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9766 DSTYK Zornitza Stark Classified gene: DSTYK as Amber List (moderate evidence)
Mendeliome v0.9766 DSTYK Zornitza Stark Gene: dstyk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9765 DSTYK Zornitza Stark edited their review of gene: DSTYK: Changed rating: AMBER
Fetal anomalies v0.542 DSP Zornitza Stark Marked gene: DSP as ready
Fetal anomalies v0.542 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Fetal anomalies v0.542 DSP Zornitza Stark Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Skin fragility-woolly hair syndrome 607655; Epidermolysis bullosa, lethal acantholytic 609638; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Keratosis palmoplantaris striata II, 612908 to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Epidermolysis bullosa, lethal acantholytic, MIM# 609638
Fetal anomalies v0.541 DSP Zornitza Stark Publications for gene: DSP were set to 30993396
Fetal anomalies v0.540 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.540 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98, MIM# 619605
Intellectual disability syndromic and non-syndromic v0.4288 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy 98, MIM# 619605
Intellectual disability syndromic and non-syndromic v0.4287 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290, Developmental and epileptic encephalopathy 98, MIM# 619605
Genetic Epilepsy v0.1394 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from developmental and epileptic encephalopathy; early or neonatal onset seizures, polymicrogyria to Developmental and epileptic encephalopathy 98, MIM# 619605
Genetic Epilepsy v0.1393 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 98, MIM# 619605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9765 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98, MIM# 619605
Mendeliome v0.9764 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy 98, MIM# 619605
Polymicrogyria and Schizencephaly v0.167 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98 , MIM#619605
Polymicrogyria and Schizencephaly v0.166 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy 98, MIM# 619605
Fetal anomalies v0.539 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Fetal anomalies v0.539 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.539 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; arthrogryposis; microcephaly; extensive cortical malformations to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria
Fetal anomalies v0.538 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to 31608932; 30690204
Fetal anomalies v0.537 ATP1A2 Zornitza Stark Mode of inheritance for gene: ATP1A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.536 ATP1A2 Zornitza Stark Classified gene: ATP1A2 as Green List (high evidence)
Fetal anomalies v0.536 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.535 ATP1A2 Zornitza Stark commented on gene: ATP1A2: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Fetal anomalies v0.535 ATP1A2 Zornitza Stark Deleted their comment
Fetal anomalies v0.535 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy, polymicrogyria; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.535 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed publications: 30690204, 31608932, 33880529
Fetal anomalies v0.535 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed publications: 30690204, 31608932; Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.70 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602
Microcephaly v1.69 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed rating: GREEN
Microcephaly v1.69 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Mode of inheritance: None
Mendeliome v0.9764 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM#104290; Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.9763 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy, polymicrogyria
Hydrops fetalis v0.212 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Hydrops fetalis v0.211 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations
Arthrogryposis v0.307 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency
Polymicrogyria and Schizencephaly v0.166 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria
Arthrogryposis v0.306 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, hydrops, arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features, severe respiratory insufficiency
Polymicrogyria and Schizencephaly v0.165 ATP1A2 Zornitza Stark Publications for gene: ATP1A2 were set to 31608932
Polymicrogyria and Schizencephaly v0.164 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.9763 NR4A3 Ain Roesley reviewed gene: NR4A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.535 DSTYK Belinda Chong reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540,23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.535 DSP Belinda Chong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16467215,23137101,26604139, 22795705,31983221,24108106,16175511,20302578,20613772; Phenotypes: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9763 PRKG2 Zornitza Stark Publications for gene: PRKG2 were set to 33106379
Mendeliome v0.9762 PRKG2 Zornitza Stark reviewed gene: PRKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34782440; Phenotypes: Acromesomelic dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.139 PRKG2 Zornitza Stark Publications for gene: PRKG2 were set to 33106379
Skeletal dysplasia v0.138 PRKG2 Zornitza Stark edited their review of gene: PRKG2: Added comment: PMID 34782440: 4 further families reported.; Changed publications: 33106379, 34782440
Fetal anomalies v0.535 MED17 Zornitza Stark Marked gene: MED17 as ready
Fetal anomalies v0.535 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Fetal anomalies v0.535 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Fetal anomalies v0.534 MED17 Zornitza Stark Publications for gene: MED17 were set to
Fetal anomalies v0.533 MED17 Zornitza Stark Classified gene: MED17 as Green List (high evidence)
Fetal anomalies v0.533 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Fetal anomalies v0.532 MED17 Zornitza Stark changed review comment from: 5 individuals from 3 families now reported with intellectual disability and variable other neurological features including ataxia and seizures.; to: Over 10 families now reported with intellectual disability and variable other neurological features including ataxia, microcephaly and seizures. Note the c.1112T>C (p.L371P) variant is a founder variant in the Caucasus-Jewish families.
Fetal anomalies v0.532 MED17 Zornitza Stark edited their review of gene: MED17: Changed publications: 30345598, 33756211
Mendeliome v0.9762 MED17 Zornitza Stark Tag founder tag was added to gene: MED17.
Mendeliome v0.9762 MED17 Zornitza Stark edited their review of gene: MED17: Changed publications: 30345598, 33756211
Mendeliome v0.9762 MED17 Zornitza Stark changed review comment from: 5 individuals from 3 families now reported with intellectual disability and variable other neurological features including ataxia and seizures.; to: Over 10 families now reported with intellectual disability and variable other neurological features including ataxia, microcephaly and seizures.

Note the c.1112T>C (p.L371P) variant is a founder variant in the Caucasus-Jewish families.
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.43 CNTNAP2 Zornitza Stark Marked gene: CNTNAP2 as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.43 CNTNAP2 Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.43 CNTNAP2 Zornitza Stark Classified gene: CNTNAP2 as Green List (high evidence)
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.43 CNTNAP2 Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.42 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly. Sources: Expert Review
Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTNAP2 were set to 16571880; 19896112; 27439707
Phenotypes for gene: CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Review for gene: CNTNAP2 was set to GREEN
Added comment: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome. Typical clinical features include delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioural abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4287 CNTNAP2 Zornitza Stark Marked gene: CNTNAP2 as ready
Intellectual disability syndromic and non-syndromic v0.4287 CNTNAP2 Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4287 CNTNAP2 Zornitza Stark Phenotypes for gene: CNTNAP2 were changed from to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Intellectual disability syndromic and non-syndromic v0.4286 CNTNAP2 Zornitza Stark Publications for gene: CNTNAP2 were set to
Intellectual disability syndromic and non-syndromic v0.4285 CNTNAP2 Zornitza Stark Mode of inheritance for gene: CNTNAP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4285 CNTNAP2 Zornitza Stark Mode of inheritance for gene: CNTNAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4284 CNTNAP2 Zornitza Stark reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880, 19896112, 27439707; Phenotypes: Cortical dysplasia-focal epilepsy syndrome, MIM# 610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9762 CNTNAP2 Zornitza Stark Marked gene: CNTNAP2 as ready
Mendeliome v0.9762 CNTNAP2 Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence).
Mendeliome v0.9762 CNTNAP2 Zornitza Stark Phenotypes for gene: CNTNAP2 were changed from to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Mendeliome v0.9761 CNTNAP2 Zornitza Stark Publications for gene: CNTNAP2 were set to
Mendeliome v0.9760 CNTNAP2 Zornitza Stark Mode of inheritance for gene: CNTNAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9759 CNTNAP2 Zornitza Stark reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880, 19896112, 27439707; Phenotypes: Cortical dysplasia-focal epilepsy syndrome, MIM# 610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.532 CNTNAP2 Zornitza Stark changed review comment from: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome.; to: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome. Typical clinical features include delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioural abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging.
Fetal anomalies v0.532 CNTNAP2 Zornitza Stark Marked gene: CNTNAP2 as ready
Fetal anomalies v0.532 CNTNAP2 Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence).
Fetal anomalies v0.532 CNTNAP2 Zornitza Stark Phenotypes for gene: CNTNAP2 were changed from CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Fetal anomalies v0.531 CNTNAP2 Zornitza Stark Publications for gene: CNTNAP2 were set to
Fetal anomalies v0.530 CNTNAP2 Zornitza Stark reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880, 19896112, 27439707]; Phenotypes: Cortical dysplasia-focal epilepsy syndrome, MIM# 610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.530 CNTNAP1 Zornitza Stark changed review comment from: Multiple affected individuals reported; ID is part of the phenotype.; to: Multiple affected individuals reported, multiple contractures.
Fetal anomalies v0.530 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Fetal anomalies v0.530 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Fetal anomalies v0.530 CNTNAP1 Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from LETHAL CONGENITAL CONTRACTURE SYNDROME 7 to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286
Fetal anomalies v0.529 CNTNAP1 Zornitza Stark Publications for gene: CNTNAP1 were set to
Fetal anomalies v0.528 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Fetal anomalies v0.528 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Green List (High Evidence).
Fetal anomalies v0.528 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from CNOT3 syndrome; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672 to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies , MIM#618672
Fetal anomalies v0.527 CNOT3 Zornitza Stark Publications for gene: CNOT3 were set to
Fetal anomalies v0.526 CNOT3 Zornitza Stark Mode of inheritance for gene: CNOT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.525 CNOT3 Zornitza Stark changed review comment from: Comment when marking as ready: 16 unrelated individuals reported.; to: 16 unrelated individuals reported.

Skeletal and structural brain abnormalities in some.
Fetal anomalies v0.525 CNOT3 Zornitza Stark edited their review of gene: CNOT3: Changed rating: GREEN
Fetal anomalies v0.525 CNOT1 Zornitza Stark Marked gene: CNOT1 as ready
Fetal anomalies v0.525 CNOT1 Zornitza Stark Gene: cnot1 has been classified as Green List (High Evidence).
Fetal anomalies v0.525 CNOT1 Zornitza Stark Phenotypes for gene: CNOT1 were changed from Holoprosencephaly 12, with or without pancreatic agenesis, 618500 to Holoprosencephaly 12, with or without pancreatic agenesis, 618500; Vissers-Bodmer syndrome, MIM#619033
Fetal anomalies v0.524 CNOT1 Zornitza Stark Publications for gene: CNOT1 were set to 31006513; 31006510
Fetal anomalies v0.523 CNOT1 Zornitza Stark Mode of inheritance for gene: CNOT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.522 CLPB Zornitza Stark Marked gene: CLPB as ready
Fetal anomalies v0.522 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Fetal anomalies v0.522 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Fetal anomalies v0.521 CLPB Zornitza Stark Publications for gene: CLPB were set to
Fetal anomalies v0.520 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.519 CLPB Zornitza Stark changed review comment from: Bi-allelic variants: 3-Methylglutaconic aciduria (MGCA7) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections. More than 10 unrelated families reported.

Mono-allelic variants: six unrelated individuals reported with de novo variants and neutropaenia, epilepsy, developmental issues, and 3-methylglutaconic aciduria.; to: Bi-allelic variants: 3-Methylglutaconic aciduria (MGCA7) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections. Microcephaly is a feature. More than 10 unrelated families reported.

Mono-allelic variants: six unrelated individuals reported with de novo variants and neutropaenia, epilepsy, developmental issues, and 3-methylglutaconic aciduria.
Fetal anomalies v0.519 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31155284; Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541, Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.519 CKAP2L Zornitza Stark Marked gene: CKAP2L as ready
Fetal anomalies v0.519 CKAP2L Zornitza Stark Gene: ckap2l has been classified as Green List (High Evidence).
Fetal anomalies v0.519 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Fetal anomalies v0.519 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Fetal anomalies v0.519 DNMT3B Zornitza Stark Phenotypes for gene: DNMT3B were changed from IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Fetal anomalies v0.518 DNMT3B Zornitza Stark Publications for gene: DNMT3B were set to
Fetal anomalies v0.517 DNMT3B Zornitza Stark reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.517 DNMT3B Belinda Chong reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11837609, 17893117,10647011,23486536; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4284 CKAP2L Zornitza Stark Marked gene: CKAP2L as ready
Intellectual disability syndromic and non-syndromic v0.4284 CKAP2L Zornitza Stark Gene: ckap2l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4284 CKAP2L Zornitza Stark Phenotypes for gene: CKAP2L were changed from to Filippi syndrome, MIM# 272440
Intellectual disability syndromic and non-syndromic v0.4283 CKAP2L Zornitza Stark Publications for gene: CKAP2L were set to
Intellectual disability syndromic and non-syndromic v0.4282 CKAP2L Zornitza Stark Mode of inheritance for gene: CKAP2L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4281 CKAP2L Zornitza Stark reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome, MIM# 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9759 CKAP2L Zornitza Stark Marked gene: CKAP2L as ready
Mendeliome v0.9759 CKAP2L Zornitza Stark Gene: ckap2l has been classified as Green List (High Evidence).
Mendeliome v0.9759 CKAP2L Zornitza Stark Phenotypes for gene: CKAP2L were changed from to Filippi syndrome, MIM# 272440
Mendeliome v0.9758 CKAP2L Zornitza Stark Publications for gene: CKAP2L were set to
Mendeliome v0.9757 CKAP2L Zornitza Stark Mode of inheritance for gene: CKAP2L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9756 CKAP2L Zornitza Stark reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome, MIM# 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.517 CKAP2L Zornitza Stark Phenotypes for gene: CKAP2L were changed from FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION to Filippi syndrome, MIM# 272440
Fetal anomalies v0.516 CKAP2L Zornitza Stark Publications for gene: CKAP2L were set to
Fetal anomalies v0.515 CKAP2L Zornitza Stark reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome, MIM# 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9756 P3H1 Zornitza Stark Marked gene: P3H1 as ready
Mendeliome v0.9756 P3H1 Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence).
Mendeliome v0.9756 P3H1 Zornitza Stark Phenotypes for gene: P3H1 were changed from to Osteogenesis imperfecta, type VIII, MIM# 610915
Mendeliome v0.9755 P3H1 Zornitza Stark Publications for gene: P3H1 were set to
Mendeliome v0.9754 P3H1 Zornitza Stark Mode of inheritance for gene: P3H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9753 P3H1 Dean Phelan reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17277775, 19088120, 27864101, 33737016; Phenotypes: Osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.515 CHUK Zornitza Stark Marked gene: CHUK as ready
Fetal anomalies v0.515 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.515 CHUK Zornitza Stark Phenotypes for gene: CHUK were changed from COCOON SYNDROME to Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome
Fetal anomalies v0.514 CHUK Zornitza Stark Publications for gene: CHUK were set to
Fetal anomalies v0.513 CHUK Zornitza Stark Mode of inheritance for gene: CHUK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.512 CHUK Zornitza Stark Classified gene: CHUK as Amber List (moderate evidence)
Fetal anomalies v0.512 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.511 CHUK Zornitza Stark reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: None; Publications: 25691407, 20961246, 10195895, 10195896, 29523099, 28513979; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339, Cocoon syndrome, MIM# 613630, AEC-like syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.511 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Fetal anomalies v0.511 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Fetal anomalies v0.511 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME to Temtamy preaxial brachydactyly syndrome, MIM# 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Fetal anomalies v0.510 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Mendeliome v0.9753 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Mendeliome v0.9753 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Mendeliome v0.9753 CHST3 Zornitza Stark Phenotypes for gene: CHST3 were changed from to Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095
Mendeliome v0.9752 CHST3 Zornitza Stark Publications for gene: CHST3 were set to
Mendeliome v0.9751 CHST3 Zornitza Stark Mode of inheritance for gene: CHST3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9750 CHST3 Zornitza Stark reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513679; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.509 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Fetal anomalies v0.509 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Fetal anomalies v0.509 CHST3 Zornitza Stark Phenotypes for gene: CHST3 were changed from SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS to Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095
Fetal anomalies v0.508 CHST3 Zornitza Stark Publications for gene: CHST3 were set to
Mendeliome v0.9750 IL1RAPL1 Zornitza Stark Marked gene: IL1RAPL1 as ready
Mendeliome v0.9750 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Green List (High Evidence).
Mendeliome v0.9750 IL1RAPL1 Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from to Intellectual developmental disorder, X-linked 21 MIM#300143
Mendeliome v0.9749 IL1RAPL1 Zornitza Stark Publications for gene: IL1RAPL1 were set to
Mendeliome v0.9748 IL1RAPL1 Zornitza Stark Mode of inheritance for gene: IL1RAPL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4281 IL1RAPL1 Zornitza Stark Marked gene: IL1RAPL1 as ready
Intellectual disability syndromic and non-syndromic v0.4281 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4281 IL1RAPL1 Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from to Intellectual developmental disorder, X-linked 21 MIM#300143
Intellectual disability syndromic and non-syndromic v0.4280 IL1RAPL1 Zornitza Stark Publications for gene: IL1RAPL1 were set to
Intellectual disability syndromic and non-syndromic v0.4279 IL1RAPL1 Zornitza Stark Mode of inheritance for gene: IL1RAPL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9747 IFITM5 Zornitza Stark Tag 5'UTR tag was added to gene: IFITM5.
Mendeliome v0.9747 IFITM5 Zornitza Stark Marked gene: IFITM5 as ready
Mendeliome v0.9747 IFITM5 Zornitza Stark Gene: ifitm5 has been classified as Green List (High Evidence).
Mendeliome v0.9747 IFITM5 Zornitza Stark Phenotypes for gene: IFITM5 were changed from to Osteogenesis imperfecta, type V MIM#610967
Mendeliome v0.9746 IFITM5 Zornitza Stark Publications for gene: IFITM5 were set to
Mendeliome v0.9745 IFITM5 Zornitza Stark Mode of pathogenicity for gene: IFITM5 was changed from to Other
Mendeliome v0.9744 IFITM5 Zornitza Stark Mode of inheritance for gene: IFITM5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.507 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Fetal anomalies v0.507 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Fetal anomalies v0.507 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE to Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776
Fetal anomalies v0.506 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Fetal anomalies v0.505 CHST14 Zornitza Stark edited their review of gene: CHST14: Changed rating: GREEN
Fetal anomalies v0.505 CHST14 Zornitza Stark Deleted their comment
Fetal anomalies v0.505 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Fetal anomalies v0.505 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Fetal anomalies v0.505 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668
Fetal anomalies v0.504 CHRNG Zornitza Stark Publications for gene: CHRNG were set to
Mendeliome v0.9743 CHRND Zornitza Stark Marked gene: CHRND as ready
Mendeliome v0.9743 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Mendeliome v0.9743 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Mendeliome v0.9742 CHRND Zornitza Stark Publications for gene: CHRND were set to
Mendeliome v0.9741 CHRND Zornitza Stark Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9740 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 16916845, 11435464, 12499478, 18398509, 11782989, 29399782, 18252226; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.503 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Fetal anomalies v0.502 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Fetal anomalies v0.501 CHRND Zornitza Stark Marked gene: CHRND as ready
Fetal anomalies v0.501 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Fetal anomalies v0.501 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Several associated, probably most relevant is lethal multiple pterygium syndrome 253290 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Fetal anomalies v0.500 CHRND Zornitza Stark Publications for gene: CHRND were set to
Mendeliome v0.9740 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Mendeliome v0.9740 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Mendeliome v0.9740 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Mendeliome v0.9739 CHRNA1 Zornitza Stark Publications for gene: CHRNA1 were set to
Mendeliome v0.9738 CHRNA1 Zornitza Stark Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9737 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26910802, 10195214, 12588888, 15079006, 18806275, 7619526, 8872460, 9158151, 18252226; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668, Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.499 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Fetal anomalies v0.499 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Fetal anomalies v0.499 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from Multiple pterygium syndrome, lethal type, 253290; MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Fetal anomalies v0.498 P3H1 Zornitza Stark Marked gene: P3H1 as ready
Fetal anomalies v0.498 P3H1 Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence).
Fetal anomalies v0.498 P3H1 Zornitza Stark Phenotypes for gene: P3H1 were changed from OSTEOGENESIS IMPERFECTA, TYPE VIII to Osteogenesis imperfecta, type VIII 610915
Fetal anomalies v0.497 P3H1 Zornitza Stark Publications for gene: P3H1 were set to
Fetal anomalies v0.496 ITGB4 Ain Roesley edited their review of gene: ITGB4: Changed publications: 20301336
Fetal anomalies v0.496 ITGA6 Ain Roesley edited their review of gene: ITGA6: Changed publications: 31502654, 27607025, 9158140, 34525201, 20301336
Fetal anomalies v0.496 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Fetal anomalies v0.496 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Green List (High Evidence).
Fetal anomalies v0.496 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from Epidermolysis Bullosa with Pyloric Atresia. 226730 to Epidermolysis bullosa, junctional, with pyloric atresia MIM#226730
Fetal anomalies v0.495 MATN3 Daniel Flanagan edited their review of gene: MATN3: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.495 ITGA6 Zornitza Stark Marked gene: ITGA6 as ready
Fetal anomalies v0.495 ITGA6 Zornitza Stark Gene: itga6 has been classified as Green List (High Evidence).
Fetal anomalies v0.495 ITGA6 Zornitza Stark Phenotypes for gene: ITGA6 were changed from Epidermolysis Bullosa with Pyloric Atresia. 226730 to Epidermolysis bullosa, junctional, with pyloric stenosis MIM#226730
Fetal anomalies v0.494 ITGA6 Zornitza Stark Publications for gene: ITGA6 were set to
Fetal anomalies v0.493 IRF6 Zornitza Stark Marked gene: IRF6 as ready
Fetal anomalies v0.493 IRF6 Zornitza Stark Gene: irf6 has been classified as Green List (High Evidence).
Fetal anomalies v0.493 IRF6 Zornitza Stark Phenotypes for gene: IRF6 were changed from VAN DER WOUDE SYNDROME; POPLITEAL PTERYGIUM SYNDROME to Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300
Fetal anomalies v0.492 IRF6 Zornitza Stark Mode of inheritance for gene: IRF6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.491 INTU Zornitza Stark Marked gene: INTU as ready
Fetal anomalies v0.491 INTU Zornitza Stark Gene: intu has been classified as Green List (High Evidence).
Fetal anomalies v0.491 INTU Zornitza Stark Phenotypes for gene: INTU were changed from ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 to Orofaciodigital syndrome XVII MIM#617926; Short-rib thoracic dysplasia 20 with polydactyly MIM#617925
Fetal anomalies v0.490 INPPL1 Seb Lunke Marked gene: INPPL1 as ready
Fetal anomalies v0.490 INPPL1 Seb Lunke Gene: inppl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.490 INPPL1 Seb Lunke Phenotypes for gene: INPPL1 were changed from OPSISMODYSPLASIA to Opsismodysplasia MIM#258480
Fetal anomalies v0.489 INTU Zornitza Stark Publications for gene: INTU were set to 28289185; 29451301; 30266093
Fetal anomalies v0.488 INPPL1 Seb Lunke Publications for gene: INPPL1 were set to
Mendeliome v0.9737 IMPAD1 Ain Roesley reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22887726, 21549340; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type MIM#614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.487 IMPAD1 Zornitza Stark Marked gene: IMPAD1 as ready
Fetal anomalies v0.487 IMPAD1 Zornitza Stark Gene: impad1 has been classified as Green List (High Evidence).
Fetal anomalies v0.487 IMPAD1 Zornitza Stark Phenotypes for gene: IMPAD1 were changed from CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE to Chondrodysplasia with joint dislocations, GPAPP type MIM#614078
Fetal anomalies v0.487 MATN3 Seb Lunke Phenotypes for gene: MATN3 were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728); Epiphyseal dysplasia, multiple, 5 (MIM#607078)
Mendeliome v0.9737 IL1RAPL1 Ain Roesley reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34452636, 27470653, 21484992, 18801879, 18801879; Phenotypes: Intellectual developmental disorder, X-linked 21 MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.486 MATN3 Seb Lunke Publications for gene: MATN3 were set to
Fetal anomalies v0.485 IMPAD1 Zornitza Stark Publications for gene: IMPAD1 were set to
Fetal anomalies v0.484 MATN3 Seb Lunke Mode of inheritance for gene: MATN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4278 IL1RAPL1 Ain Roesley reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34452636, 27470653, 21484992, 18801879, 18801879; Phenotypes: Intellectual developmental disorder, X-linked 21 MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.483 IL1RAPL1 Zornitza Stark Marked gene: IL1RAPL1 as ready
Fetal anomalies v0.483 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.483 IL1RAPL1 Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from MENTAL RETARDATION X-LINKED TYPE 21 to Intellectual developmental disorder, X-linked 21 MIM#300143
Fetal anomalies v0.482 P3H1 Dean Phelan reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27864101, 33737016, 17277775, 19088120; Phenotypes: Osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.482 IL1RAPL1 Zornitza Stark Publications for gene: IL1RAPL1 were set to
Fetal anomalies v0.481 IL1RAPL1 Ain Roesley changed review comment from: ID the main feature, with mild dysmorphism described.

only CNVs have been reported; to: ID the main feature, with mild dysmorphism described.

both SNV and intragenic CNVs have been reported
Fetal anomalies v0.481 IL1RAPL1 Zornitza Stark Classified gene: IL1RAPL1 as Red List (low evidence)
Fetal anomalies v0.481 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.480 MAP3K1 Seb Lunke Marked gene: MAP3K1 as ready
Fetal anomalies v0.480 MAP3K1 Seb Lunke Gene: map3k1 has been classified as Green List (High Evidence).
Fetal anomalies v0.480 MAP3K1 Seb Lunke Phenotypes for gene: MAP3K1 were changed from 46XY SEX REVERSAL 6 to 46XY sex reversal 6 (MIM#613762)
Fetal anomalies v0.479 MAP3K1 Seb Lunke Publications for gene: MAP3K1 were set to
Fetal anomalies v0.478 MAP3K1 Seb Lunke Mode of inheritance for gene: MAP3K1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9737 MAFB Zornitza Stark Marked gene: MAFB as ready
Mendeliome v0.9737 MAFB Zornitza Stark Gene: mafb has been classified as Green List (High Evidence).
Fetal anomalies v0.477 MAP3K1 Seb Lunke Classified gene: MAP3K1 as Green List (high evidence)
Fetal anomalies v0.477 MAP3K1 Seb Lunke Added comment: Comment on list classification: Hypospadias in males potentially detectable on US
Fetal anomalies v0.477 MAP3K1 Seb Lunke Gene: map3k1 has been classified as Green List (High Evidence).
Mendeliome v0.9737 MAFB Zornitza Stark Phenotypes for gene: MAFB were changed from to Multicentric carpotarsal osteolysis syndrome (MIM#166300); Duane retraction syndrome 3, MIM# 617041
Mendeliome v0.9736 MAFB Zornitza Stark Publications for gene: MAFB were set to
Mendeliome v0.9735 MAFB Zornitza Stark reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27181683; Phenotypes: Duane retraction syndrome 3, MIM# 617041; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9735 IFITM5 Ain Roesley edited their review of gene: IFITM5: Added comment: Comment on mode of pathogenicity: LoF not established, alternative neomorph/GoF postulated but not yet conclusively proven; Changed mode of pathogenicity: Other
Fetal anomalies v0.476 IFITM5 Ain Roesley edited their review of gene: IFITM5: Added comment: Comment on mode of pathogenicity: LoF not established, alternative neomorph/GoF postulated but not yet conclusively proven; Changed mode of pathogenicity: Other
Fetal anomalies v0.476 IL11RA Seb Lunke Marked gene: IL11RA as ready
Fetal anomalies v0.476 IL11RA Seb Lunke Gene: il11ra has been classified as Green List (High Evidence).
Skeletal dysplasia v0.138 IFITM5 Ain Roesley edited their review of gene: IFITM5: Changed mode of pathogenicity: Other
Mendeliome v0.9735 MAFB Zornitza Stark Mode of inheritance for gene: MAFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.476 IL11RA Seb Lunke Phenotypes for gene: IL11RA were changed from Crouzon-like craniosynostosis; Autosomal Recessive Craniosynostosis; Craniosynostosis and dental anomalies, 614188 to Craniosynostosis and dental anomalies, MIM# 614188
Fetal anomalies v0.475 IHH Zornitza Stark Marked gene: IHH as ready
Fetal anomalies v0.475 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Fetal anomalies v0.475 IHH Zornitza Stark Phenotypes for gene: IHH were changed from ACROCAPITOFEMORAL DYSPLASIA; BRACHYDACTYLY, TYPE A1 to Acrocapitofemoral dysplasia MIM#607778; Brachydactyly, type A1 MIM#112500
Fetal anomalies v0.475 IL11RA Seb Lunke Publications for gene: IL11RA were set to
Fetal anomalies v0.474 IHH Zornitza Stark Publications for gene: IHH were set to
Fetal anomalies v0.473 IHH Zornitza Stark Mode of inheritance for gene: IHH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Skeletal dysplasia v0.138 IFITM5 Seb Lunke Publications for gene: IFITM5 were set to
Fetal anomalies v0.472 MAFB Zornitza Stark Marked gene: MAFB as ready
Fetal anomalies v0.472 MAFB Zornitza Stark Gene: mafb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.472 MAFB Zornitza Stark Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to Multicentric carpotarsal osteolysis syndrome (MIM#166300)
Skeletal dysplasia v0.137 IFITM5 Seb Lunke Marked gene: IFITM5 as ready
Skeletal dysplasia v0.137 IFITM5 Seb Lunke Gene: ifitm5 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.137 IFITM5 Seb Lunke Phenotypes for gene: IFITM5 were changed from Osteogenesis imperfecta, type V 610967 to Osteogenesis imperfecta, type V MIM#610967
Fetal anomalies v0.471 MAFB Zornitza Stark Publications for gene: MAFB were set to
Fetal anomalies v0.470 MAFB Zornitza Stark Classified gene: MAFB as Amber List (moderate evidence)
Fetal anomalies v0.470 MAFB Zornitza Stark Gene: mafb has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.136 IFITM5 Seb Lunke Tag 5'UTR tag was added to gene: IFITM5.
Skeletal dysplasia v0.136 IFITM5 Seb Lunke Added comment: Comment on mode of pathogenicity: LoF not established, alternative neomorph/GoF postulated but not yet conclusively proven
Skeletal dysplasia v0.136 IFITM5 Seb Lunke Mode of pathogenicity for gene: IFITM5 was changed from to Other
Fetal anomalies v0.469 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Fetal anomalies v0.469 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Fetal anomalies v0.469 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI MIM#604320 to Neuronopathy, distal hereditary motor, type VI MIM#604320; SMA with respiratory distress, SMARD1
Fetal anomalies v0.468 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 to Neuronopathy, distal hereditary motor, type VI MIM#604320
Fetal anomalies v0.467 IGHMBP2 Zornitza Stark Publications for gene: IGHMBP2 were set to
Fetal anomalies v0.466 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Fetal anomalies v0.466 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Fetal anomalies v0.466 IFIH1 Zornitza Stark Phenotypes for gene: IFIH1 were changed from SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7 to Aicardi-Goutieres syndrome 7 MIM#615846; Singleton-Merten syndrome 1, MIM# 182250
Fetal anomalies v0.465 IFIH1 Zornitza Stark Publications for gene: IFIH1 were set to 25542954
Fetal anomalies v0.464 IFIH1 Zornitza Stark Mode of pathogenicity for gene: IFIH1 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.463 IFIH1 Zornitza Stark Mode of inheritance for gene: IFIH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.462 IFIH1 Zornitza Stark reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Leukodystrophy v0.238 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Leukodystrophy v0.238 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Leukodystrophy v0.238 IFIH1 Zornitza Stark Phenotypes for gene: IFIH1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 7 to Aicardi-Goutieres syndrome 7 MIM#615846
Fetal anomalies v0.462 IDUA Seb Lunke Marked gene: IDUA as ready
Fetal anomalies v0.462 IDUA Seb Lunke Gene: idua has been classified as Green List (High Evidence).
Leukodystrophy v0.237 IFIH1 Zornitza Stark Mode of pathogenicity for gene: IFIH1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.462 IDUA Seb Lunke Phenotypes for gene: IDUA were changed from MUCOPOLYSACCHARIDOSIS TYPE 1H; MUCOPOLYSACCHARIDOSIS TYPE 1H/S; MUCOPOLYSACCHARIDOSIS TYPE 1S to Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070); Mucopolysaccharidosis type 1, MONDO:0001586
Fetal anomalies v0.461 IDUA Seb Lunke Publications for gene: IDUA were set to
Fetal anomalies v0.460 IDS Zornitza Stark Marked gene: IDS as ready
Fetal anomalies v0.460 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Fetal anomalies v0.460 IDS Zornitza Stark Phenotypes for gene: IDS were changed from MUCOPOLYSACCHARIDOSIS TYPE 2 to Mucopolysaccharidosis II MIM#309900; MONDO:0010674; Hunter syndrome
Fetal anomalies v0.459 IDS Zornitza Stark Publications for gene: IDS were set to
Fetal anomalies v0.458 IDS Zornitza Stark reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis II MIM#309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.458 MAF Seb Lunke Marked gene: MAF as ready
Fetal anomalies v0.458 MAF Seb Lunke Gene: maf has been classified as Green List (High Evidence).
Fetal anomalies v0.458 MAF Seb Lunke Phenotypes for gene: MAF were changed from CATARACT CONGENITAL CERULEAN TYPE 4; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED; CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to Ayme-Gripp syndrome (MIM#601088)
Fetal anomalies v0.457 MAF Seb Lunke Publications for gene: MAF were set to
Fetal anomalies v0.456 MAF Seb Lunke Mode of inheritance for gene: MAF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9734 ASIP Zornitza Stark Marked gene: ASIP as ready
Mendeliome v0.9734 ASIP Zornitza Stark Gene: asip has been classified as Red List (Low Evidence).
Mendeliome v0.9734 ASIP Zornitza Stark Classified gene: ASIP as Red List (low evidence)
Mendeliome v0.9734 ASIP Zornitza Stark Gene: asip has been classified as Red List (Low Evidence).
Fetal anomalies v0.455 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Fetal anomalies v0.455 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence).
Fetal anomalies v0.455 LTBP4 Zornitza Stark Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC 613177 to Cutis laxa, autosomal recessive, type IC, MIM# 613177
Fetal anomalies v0.454 LTBP4 Zornitza Stark Publications for gene: LTBP4 were set to
Fetal anomalies v0.453 LTBP3 Zornitza Stark Marked gene: LTBP3 as ready
Fetal anomalies v0.453 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Fetal anomalies v0.453 LTBP3 Zornitza Stark Phenotypes for gene: LTBP3 were changed from PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA to Dental anomalies and short stature, MIM# 601216; Geleophysic dysplasia 3, MIM# 617809; Thoracic aneurysm
Fetal anomalies v0.452 LTBP3 Zornitza Stark Publications for gene: LTBP3 were set to
Fetal anomalies v0.451 LTBP3 Zornitza Stark Mode of inheritance for gene: LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.450 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Fetal anomalies v0.450 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Fetal anomalies v0.450 LRP4 Zornitza Stark Phenotypes for gene: LRP4 were changed from CENANI-LENZ SYNDACTYLY SYNDROME to Cenani-Lenz syndactyly syndrome (MIM#212780)
Fetal anomalies v0.449 LRP4 Zornitza Stark Publications for gene: LRP4 were set to
Fetal anomalies v0.448 ITGB4 Ain Roesley reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, with pyloric atresia MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 ITGA6 Ain Roesley edited their review of gene: ITGA6: Changed rating: GREEN
Fetal anomalies v0.448 ITGA6 Ain Roesley changed review comment from: At least 4 probands reported

Pyelonephrosis, Urethrovesical occlusion and Stenosis at the ureterovesical junctions are some other features in this condition; to: At least 4 probands reported

Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder).
Fetal anomalies v0.448 ITGA6 Ain Roesley reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: None; Publications: 31502654, 27607025, 9158140, 34525201; Phenotypes: Epidermolysis bullosa, junctional, with pyloric stenosis MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IRF6 Ain Roesley reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Popliteal pterygium syndrome 1MIM#119500, van der Woude syndrome MIM#119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.448 INTU Ain Roesley reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: None; Publications: 27158779, 29451301, 20067783, 34623732; Phenotypes: Orofaciodigital syndrome XVII MIM#617926, Short-rib thoracic dysplasia 20 with polydactyly MIM#617925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 INPPL1 Ain Roesley reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23273567, 34529350, 34094554; Phenotypes: Opsismodysplasia MIM#258480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IMPAD1 Ain Roesley reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22887726, 21549340; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type MIM#614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 MATN3 Daniel Flanagan reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31724101, 32025536, 11968079, 14729835; Phenotypes: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728), Epiphyseal dysplasia, multiple, 5 (MIM#607078); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.448 IL1RAPL1 Ain Roesley reviewed gene: IL1RAPL1: Rating: RED; Mode of pathogenicity: None; Publications: 34452636, 27470653, 21484992, 18801879, 18801879; Phenotypes: Intellectual developmental disorder, X-linked 21 MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.448 MAP3K1 Daniel Flanagan reviewed gene: MAP3K1: Rating: RED; Mode of pathogenicity: None; Publications: 21129722, 32986312; Phenotypes: 46XY sex reversal 6 (MIM#613762); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.448 IL11RA Ain Roesley reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21741611, 32277509, 30811827, 29926465, 24498618; Phenotypes: Craniosynostosis and dental anomalies, MIM# 614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9733 MAFB Daniel Flanagan reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956186, 30208859; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.448 IHH Ain Roesley reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 34530144, 12632327, 32311039, 29155992; Phenotypes: Acrocapitofemoral dysplasia MIM#607778, Brachydactyly, type A1 MIM#112500; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 MAFB Daniel Flanagan reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 23956186, 30208859; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.448 IGHMBP2 Ain Roesley reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14681881, 23560007, 30863264; Phenotypes: Neuronopathy, distal hereditary motor, type VI MIM#604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IFITM5 Ain Roesley reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta, type V MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9733 IFITM5 Ain Roesley reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta, type V MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v0.135 IFITM5 Ain Roesley reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta, type V MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v0.135 IFIH1 Ain Roesley reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846 28605144 26284909 28475458; Phenotypes: SINGLETON-MERTEN SYNDROME 1 (MIM# 182250); Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.448 IFIH1 Ain Roesley reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846, 28605144, 26284909, 28475458; Phenotypes: Aicardi-Goutieres syndrome 7 MIM#615846, SINGLETON-MERTEN SYNDROME 1 (MIM# 182250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4278 CHKB Zornitza Stark Marked gene: CHKB as ready
Intellectual disability syndromic and non-syndromic v0.4278 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4278 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Intellectual disability syndromic and non-syndromic v0.4277 CHKB Zornitza Stark Publications for gene: CHKB were set to
Mendeliome v0.9733 CHKB Zornitza Stark Marked gene: CHKB as ready
Mendeliome v0.9733 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Mendeliome v0.9733 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Intellectual disability syndromic and non-syndromic v0.4276 CHKB Zornitza Stark Mode of inheritance for gene: CHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4275 CHKB Zornitza Stark reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9732 CHKB Zornitza Stark Publications for gene: CHKB were set to
Mendeliome v0.9731 CHKB Zornitza Stark Mode of inheritance for gene: CHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9730 CHKB Zornitza Stark reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.448 CHKB Zornitza Stark Marked gene: CHKB as ready
Fetal anomalies v0.448 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Fetal anomalies v0.448 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type 602541 to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Fetal anomalies v0.447 CHKB Zornitza Stark Publications for gene: CHKB were set to
Fetal anomalies v0.446 CHKB Zornitza Stark reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.446 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Fetal anomalies v0.446 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Fetal anomalies v0.446 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME TYPE 5 to CHARGE syndrome, MIM# 214800
Fetal anomalies v0.445 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Fetal anomalies v0.444 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.443 CHD7 Zornitza Stark changed review comment from: Very rare reports of CDH in CHARGE syndrome, not a characteristic or common feature.; to: Well established gene-disease association, multiple congenital anomalies are a feature.
Fetal anomalies v0.443 CHD7 Zornitza Stark edited their review of gene: CHD7: Changed rating: GREEN
Fetal anomalies v0.443 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Fetal anomalies v0.443 CHD4 Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence).
Fetal anomalies v0.443 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Fetal anomalies v0.442 CHD4 Zornitza Stark changed review comment from: Many P/LP variants reported. Missense variants disrupt ATPase activity and decrease nucleosome remodelling ability. ~50% of missense variants occur between p.1127-1192 containing motifs V, Vb and VI.; to: Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual developmental disorder with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features.

Many P/LP variants reported. Missense variants disrupt ATPase activity and decrease nucleosome remodelling ability. ~50% of missense variants occur between p.1127-1192 containing motifs V, Vb and VI.
Fetal anomalies v0.442 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.306 CHAT Zornitza Stark Marked gene: CHAT as ready
Arthrogryposis v0.306 CHAT Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
Arthrogryposis v0.306 CHAT Zornitza Stark Phenotypes for gene: CHAT were changed from to Myasthenic syndrome, congenital, 6, presynaptic, 254210
Arthrogryposis v0.305 CHAT Zornitza Stark Publications for gene: CHAT were set to
Arthrogryposis v0.304 CHAT Zornitza Stark Mode of inheritance for gene: CHAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.303 CHAT Zornitza Stark reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068, 12756141, 31192527, 29518833, 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.441 CHAT Zornitza Stark Marked gene: CHAT as ready
Fetal anomalies v0.441 CHAT Zornitza Stark Gene: chat has been classified as Green List (High Evidence).
Fetal anomalies v0.441 CHAT Zornitza Stark Publications for gene: CHAT were set to
Fetal anomalies v0.440 CHAT Zornitza Stark reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068, 12756141, 31192527, 29518833, 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.236 IFIH1 Ain Roesley reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846; Phenotypes: Aicardi-Goutieres syndrome 7 MIM#615846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4275 CHAMP1 Zornitza Stark Marked gene: CHAMP1 as ready
Intellectual disability syndromic and non-syndromic v0.4275 CHAMP1 Zornitza Stark Gene: champ1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4275 CHAMP1 Zornitza Stark Phenotypes for gene: CHAMP1 were changed from to Mental retardation, autosomal dominant 40 (MIM#616579)
Intellectual disability syndromic and non-syndromic v0.4274 CHAMP1 Zornitza Stark Publications for gene: CHAMP1 were set to
Intellectual disability syndromic and non-syndromic v0.4273 CHAMP1 Zornitza Stark Mode of inheritance for gene: CHAMP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9730 CHAMP1 Zornitza Stark Marked gene: CHAMP1 as ready
Mendeliome v0.9730 CHAMP1 Zornitza Stark Gene: champ1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4272 CHAMP1 Zornitza Stark reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9730 CHAMP1 Zornitza Stark Phenotypes for gene: CHAMP1 were changed from to Mental retardation, autosomal dominant 40 (MIM#616579)
Mendeliome v0.9729 CHAMP1 Zornitza Stark Publications for gene: CHAMP1 were set to
Mendeliome v0.9728 CHAMP1 Zornitza Stark Mode of inheritance for gene: CHAMP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9727 CHAMP1 Zornitza Stark reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.440 CHAMP1 Zornitza Stark Marked gene: CHAMP1 as ready
Fetal anomalies v0.440 CHAMP1 Zornitza Stark Gene: champ1 has been classified as Green List (High Evidence).
Fetal anomalies v0.440 CHAMP1 Zornitza Stark Phenotypes for gene: CHAMP1 were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 40 (MIM#616579); microcephaly
Microcephaly v1.69 CHAMP1 Zornitza Stark Marked gene: CHAMP1 as ready
Microcephaly v1.69 CHAMP1 Zornitza Stark Added comment: Comment when marking as ready: Sufficient number with microcephaly for Green rating.
Microcephaly v1.69 CHAMP1 Zornitza Stark Gene: champ1 has been classified as Green List (High Evidence).
Fetal anomalies v0.439 CHAMP1 Zornitza Stark Publications for gene: CHAMP1 were set to
Fetal anomalies v0.438 CHAMP1 Zornitza Stark Mode of inheritance for gene: CHAMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.437 CHAMP1 Zornitza Stark reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9727 CFTR Zornitza Stark Marked gene: CFTR as ready
Mendeliome v0.9727 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Mendeliome v0.9727 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700; Congenital bilateral absence of vas deferens, MIM# 277180
Mendeliome v0.9726 CFTR Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9725 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700, Congenital bilateral absence of vas deferens, MIM# 277180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.437 CFTR Zornitza Stark Marked gene: CFTR as ready
Fetal anomalies v0.437 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Fetal anomalies v0.437 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from Cystic fibrosis 219700 to Cystic fibrosis, MIM# 219700
Fetal anomalies v0.436 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.436 CFC1 Zornitza Stark Marked gene: CFC1 as ready
Fetal anomalies v0.436 CFC1 Zornitza Stark Gene: cfc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.436 CFC1 Zornitza Stark Phenotypes for gene: CFC1 were changed from Heterotaxy, visceral, 2, autosomal, 605376; CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS to Heterotaxy, visceral, 2, autosomal 605376
Fetal anomalies v0.435 CFC1 Zornitza Stark Publications for gene: CFC1 were set to 11062482; 11799476
Fetal anomalies v0.434 CFAP53 Zornitza Stark Marked gene: CFAP53 as ready
Fetal anomalies v0.434 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Fetal anomalies v0.434 CFAP53 Zornitza Stark Phenotypes for gene: CFAP53 were changed from inverted spleen; midline liver; Dextrocardia; Heterotaxy, visceral, 6, autosomal recessive; Transposition of the great arteries; gut malrotation to Heterotaxy, visceral, 6, autosomal recessive 614779
Fetal anomalies v0.433 CFAP53 Zornitza Stark Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 26531781; PMID: 25504577
Fetal anomalies v0.432 IDUA Ain Roesley reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Mucopolysaccharidosis Ih (MIM#607014), Mucopolysaccharidosis Ih/s (MIM#607015), Mucopolysaccharidosis Is (MIM#6070), Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.432 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Fetal anomalies v0.432 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Fetal anomalies v0.432 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Hydrocephalus; ID
Fetal anomalies v0.431 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Fetal anomalies v0.430 CEP57 Zornitza Stark Marked gene: CEP57 as ready
Fetal anomalies v0.430 CEP57 Zornitza Stark Gene: cep57 has been classified as Green List (High Evidence).
Fetal anomalies v0.430 CEP57 Zornitza Stark Phenotypes for gene: CEP57 were changed from MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 to Mosaic variegated aneuploidy syndrome 2, #MIM 614114
Fetal anomalies v0.429 CEP57 Zornitza Stark Publications for gene: CEP57 were set to
Fetal anomalies v0.428 IDS Ain Roesley reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921913, 9762601, 8940265, 1901826; Phenotypes: Mucopolysaccharidosis II MIM#309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.428 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Fetal anomalies v0.428 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Fetal anomalies v0.428 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from JOUBERT SYNDROME 15 to Joubert syndrome 15, MIM# 614464
Fetal anomalies v0.427 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Mendeliome v0.9725 ASIP Ain Roesley reviewed gene: ASIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Bleeding and Platelet Disorders v1.3 ETV6 Zornitza Stark Phenotypes for gene: ETV6 were changed from Thrombocytopenia 5, MIM# 616216 to Thrombocytopaenia 5, MIM# 616216
Mendeliome v0.9725 ETV6 Zornitza Stark Marked gene: ETV6 as ready
Mendeliome v0.9725 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Mendeliome v0.9725 ETV6 Zornitza Stark Phenotypes for gene: ETV6 were changed from to Thrombocytopaenia 5, MIM# 616216
Mendeliome v0.9724 ETV6 Zornitza Stark Publications for gene: ETV6 were set to
Mendeliome v0.9723 ETV6 Zornitza Stark Mode of inheritance for gene: ETV6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9722 ETV6 Zornitza Stark reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25581430, 25807284; Phenotypes: Thrombocytopaenia 5, MIM# 616216; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v1.2 ETV6 Zornitza Stark edited their review of gene: ETV6: Changed phenotypes: Thrombocytopaenia 5, MIM# 616216
Fetal anomalies v0.426 MAF Daniel Flanagan reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 30160832, 34643041; Phenotypes: Ayme-Gripp syndrome (MIM#601088); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.426 LTBP4 Daniel Flanagan reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22829427; Phenotypes: Cutis laxa, autosomal recessive, type IC (MIM#613177); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.426 LTBP3 Daniel Flanagan reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344874, 25899461, 25669657, 29625025, 27068007, 34150014; Phenotypes: Dental anomalies and short stature, MIM# 601216, Geleophysic dysplasia 3, MIM# 617809, Thoracic aneurysm; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.426 LRP4 Daniel Flanagan reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23636941, 23664847, 30041615, 20381006; Phenotypes: Cenani-Lenz syndactyly syndrome (MIM#212780); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9722 BSG Zornitza Stark Marked gene: BSG as ready
Mendeliome v0.9722 BSG Zornitza Stark Gene: bsg has been classified as Red List (Low Evidence).
Mendeliome v0.9722 BSG Zornitza Stark Phenotypes for gene: BSG were changed from to [Blood group, OK] MIM#111380
Mendeliome v0.9721 BSG Zornitza Stark Classified gene: BSG as Red List (low evidence)
Mendeliome v0.9721 BSG Zornitza Stark Gene: bsg has been classified as Red List (Low Evidence).
Mendeliome v0.9720 TPCN2 Zornitza Stark Marked gene: TPCN2 as ready
Mendeliome v0.9720 TPCN2 Zornitza Stark Gene: tpcn2 has been classified as Red List (Low Evidence).
Mendeliome v0.9720 TPCN2 Zornitza Stark Phenotypes for gene: TPCN2 were changed from to [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267
Mendeliome v0.9719 TPCN2 Zornitza Stark Publications for gene: TPCN2 were set to
Mendeliome v0.9718 TPCN2 Zornitza Stark Classified gene: TPCN2 as Red List (low evidence)
Mendeliome v0.9718 TPCN2 Zornitza Stark Gene: tpcn2 has been classified as Red List (Low Evidence).
Mendeliome v0.9717 MYO9B Zornitza Stark Marked gene: MYO9B as ready
Mendeliome v0.9717 MYO9B Zornitza Stark Gene: myo9b has been classified as Red List (Low Evidence).
Mendeliome v0.9717 MYO9B Zornitza Stark Phenotypes for gene: MYO9B were changed from to {Celiac disease, susceptibility to, 4} MIM#609753
Mendeliome v0.9716 MYO9B Zornitza Stark Publications for gene: MYO9B were set to
Mendeliome v0.9715 MYO9B Zornitza Stark Classified gene: MYO9B as Red List (low evidence)
Mendeliome v0.9715 MYO9B Zornitza Stark Gene: myo9b has been classified as Red List (Low Evidence).
Mendeliome v0.9714 HKDC1 Zornitza Stark Marked gene: HKDC1 as ready
Mendeliome v0.9714 HKDC1 Zornitza Stark Gene: hkdc1 has been classified as Red List (Low Evidence).
Mendeliome v0.9714 HKDC1 Zornitza Stark gene: HKDC1 was added
gene: HKDC1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: HKDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HKDC1 were set to 30085091
Phenotypes for gene: HKDC1 were set to Retinitis pigmentosa 92, MIM# 619614
Review for gene: HKDC1 was set to RED
Added comment: Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant.
Sources: Expert Review
Retinitis pigmentosa v0.104 HKDC1 Zornitza Stark Marked gene: HKDC1 as ready
Retinitis pigmentosa v0.104 HKDC1 Zornitza Stark Gene: hkdc1 has been classified as Red List (Low Evidence).
Retinitis pigmentosa v0.104 HKDC1 Zornitza Stark gene: HKDC1 was added
gene: HKDC1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert list
Mode of inheritance for gene: HKDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HKDC1 were set to 30085091
Phenotypes for gene: HKDC1 were set to Retinitis pigmentosa 92, MIM# 619614
Review for gene: HKDC1 was set to RED
Added comment: Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant.
Sources: Expert list
Mendeliome v0.9713 BSG Paul De Fazio reviewed gene: BSG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, OK] MIM#111380; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9713 TPCN2 Paul De Fazio reviewed gene: TPCN2: Rating: RED; Mode of pathogenicity: None; Publications: 20197744, 26918892; Phenotypes: [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9713 MYO9B Paul De Fazio reviewed gene: MYO9B: Rating: RED; Mode of pathogenicity: None; Publications: 16720215, 16423886, 16282976; Phenotypes: {Celiac disease, susceptibility to, 4} MIM#609753; Mode of inheritance: Unknown; Current diagnostic: yes
Fetal anomalies v0.426 CEP290 Zornitza Stark edited their review of gene: CEP290: Changed phenotypes: Joubert syndrome 5, MIM# 610188, Meckel syndrome 4, MIM# 611134, Bardet-Biedl syndrome 14, MIM# 615991
Intellectual disability syndromic and non-syndromic v0.4272 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Intellectual disability syndromic and non-syndromic v0.4272 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4272 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134; Bardet-Biedl syndrome 14, MIM# 615991
Intellectual disability syndromic and non-syndromic v0.4271 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Intellectual disability syndromic and non-syndromic v0.4270 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4269 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 16682973, 16682970, 17705300, 33370260, 32600475; Phenotypes: Joubert syndrome 5, MIM# 610188, Meckel syndrome 4, MIM# 611134, Bardet-Biedl syndrome 14, MIM# 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.388 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Regression v0.388 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Regression v0.388 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Regression v0.387 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Regression v0.386 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.385 CEP290 Zornitza Stark Classified gene: CEP290 as Red List (low evidence)
Regression v0.385 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Regression v0.384 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: RED; Mode of pathogenicity: None; Publications: 18327255, 20690115, 16682973, 16682970, 17564967, 16909394, 17564974; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.426 CEP290 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and BBS which all have congenital abnormalities as a feature.
Fetal anomalies v0.426 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Fetal anomalies v0.426 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Fetal anomalies v0.426 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from LEBER CONGENITAL AMAUROSIS TYPE 10; BARDET-BIEDL SYNDROME TYPE 14; JOUBERT SYNDROME TYPE 5; SENIOR-LOKEN SYNDROME TYPE 6; MECKEL SYNDROME TYPE 4 to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134
Fetal anomalies v0.425 CEP290 Zornitza Stark Publications for gene: CEP290 were set to 16682973; 16682970; 17705300; 33370260; 32600475
Fetal anomalies v0.424 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Fetal anomalies v0.423 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Fetal anomalies v0.423 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Fetal anomalies v0.423 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from Nephronophthisis 15 614845 to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Fetal anomalies v0.422 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Fetal anomalies v0.421 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Fetal anomalies v0.421 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Fetal anomalies v0.421 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from SECKEL SYNDROME TYPE 5; MICROCEPHALY PRIMARY TYPE 4 to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Fetal anomalies v0.420 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Fetal anomalies v0.419 CEP152 Zornitza Stark changed review comment from: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. ID is a feature of both disorders. Gene encodes centriole protein.; to: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. Gene encodes centriole protein.
Skeletal Dysplasia_Fetal v0.57 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Skeletal Dysplasia_Fetal v0.57 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.57 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Skeletal Dysplasia_Fetal v0.56 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Skeletal Dysplasia_Fetal v0.55 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.419 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Fetal anomalies v0.419 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Fetal anomalies v0.419 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Fetal anomalies v0.418 CEP120 Zornitza Stark Publications for gene: CEP120 were set to PMID: 2720821; 25361962
Fetal anomalies v0.417 CEP120 Zornitza Stark Deleted their comment
Fetal anomalies v0.417 CEP120 Zornitza Stark edited their review of gene: CEP120: Added comment: More than 5 unrelated families with JBTS reported, and at least three families with SRTD. Functional data.; Changed publications: 27208211, 33486889, 29847808, 25361962, 27208211; Changed phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Fetal anomalies v0.417 CEP104 Zornitza Stark changed review comment from: Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list; to: Three unrelated individuals reported, structural brain abnormalities are part of the phenotype.
Sources: Expert list
Fetal anomalies v0.417 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Fetal anomalies v0.417 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Fetal anomalies v0.417 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Fetal anomalies v0.416 CEP104 Zornitza Stark Publications for gene: CEP104 were set to
Intellectual disability syndromic and non-syndromic v0.4269 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Intellectual disability syndromic and non-syndromic v0.4269 CENPJ Zornitza Stark Gene: cenpj has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4269 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from to Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358
Intellectual disability syndromic and non-syndromic v0.4268 CENPJ Zornitza Stark Publications for gene: CENPJ were set to
Intellectual disability syndromic and non-syndromic v0.4267 CENPJ Zornitza Stark Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4266 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029, Seckel syndrome 4, MIM# 613676, MONDO:0013358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9713 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Mendeliome v0.9713 CENPJ Zornitza Stark Gene: cenpj has been classified as Green List (High Evidence).
Callosome v0.338 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Callosome v0.338 CENPJ Zornitza Stark Gene: cenpj has been classified as Red List (Low Evidence).
Callosome v0.338 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from to Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358
Callosome v0.337 CENPJ Zornitza Stark Publications for gene: CENPJ were set to
Callosome v0.336 CENPJ Zornitza Stark Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.335 CENPJ Zornitza Stark Classified gene: CENPJ as Red List (low evidence)
Callosome v0.335 CENPJ Zornitza Stark Gene: cenpj has been classified as Red List (Low Evidence).
Callosome v0.334 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: RED; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029, Seckel syndrome 4, MIM# 613676, MONDO:0013358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9713 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from to Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358
Mendeliome v0.9712 CENPJ Zornitza Stark Publications for gene: CENPJ were set to
Mendeliome v0.9711 CENPJ Zornitza Stark Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9710 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029, Seckel syndrome 4, MIM# 613676, MONDO:0013358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.415 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Fetal anomalies v0.415 CENPJ Zornitza Stark Gene: cenpj has been classified as Green List (High Evidence).
Fetal anomalies v0.415 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from SECKEL SYNDROME TYPE 4; MICROCEPHALY PRIMARY TYPE 6 to Microcephaly 6, primary, autosomal recessive, MIM# 608393; Seckel syndrome 4, MIM# 613676
Fetal anomalies v0.414 CENPJ Zornitza Stark Publications for gene: CENPJ were set to
Fetal anomalies v0.413 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, Seckel syndrome 4, MIM# 613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.413 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Fetal anomalies v0.413 CDT1 Zornitza Stark Gene: cdt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.413 CDT1 Zornitza Stark Phenotypes for gene: CDT1 were changed from MEIER-GORLIN SYNDROME 4 to Meier-Gorlin syndrome 4, MIM#613804
Fetal anomalies v0.412 CDT1 Zornitza Stark changed review comment from: IUGR.; to: IUGR is a presenting feature.
Fetal anomalies v0.412 CDT1 Zornitza Stark changed review comment from: Intellect is typically normal.; to: IUGR.
Fetal anomalies v0.412 CDT1 Zornitza Stark edited their review of gene: CDT1: Changed rating: GREEN
Mendeliome v0.9710 CDON Zornitza Stark Marked gene: CDON as ready
Mendeliome v0.9710 CDON Zornitza Stark Gene: cdon has been classified as Green List (High Evidence).
Mendeliome v0.9710 CDON Zornitza Stark Phenotypes for gene: CDON were changed from to Holoprosencephaly 11, MIM# 614226; MONDO:0013642
Mendeliome v0.9709 CDON Zornitza Stark Publications for gene: CDON were set to
Mendeliome v0.9708 CDON Zornitza Stark Mode of inheritance for gene: CDON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9707 CDON Zornitza Stark changed review comment from: >5 unrelated families reported, however note some of the variants are present at a very low frequentcy in gnomad (1-4) and some are inherited. Mouse model.; to: >5 unrelated families reported, however note some of the variants are present at a very low frequentcy in gnomad (1-4) and some are inherited. Mouse model.

Note single report of bi-allelic variants in association with coloboma: PMID 32729136
Mendeliome v0.9707 CDON Zornitza Stark reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.412 CDON Zornitza Stark Marked gene: CDON as ready
Fetal anomalies v0.412 CDON Zornitza Stark Gene: cdon has been classified as Green List (High Evidence).
Fetal anomalies v0.412 CDON Zornitza Stark Phenotypes for gene: CDON were changed from HOLOPROSENCEPHALY 11 to Holoprosencephaly 11, MIM# 614226; MONDO:0013642
Fetal anomalies v0.411 CDON Zornitza Stark Publications for gene: CDON were set to
Fetal anomalies v0.410 CDON Zornitza Stark reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.410 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Fetal anomalies v0.410 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Green List (High Evidence).
Fetal anomalies v0.410 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from IMAGe Syndrome; BECKWITH-WIEDEMANN SYNDROME to Beckwith-Wiedemann syndrome, MIM# 130650; IMAGe syndrome, MIM# 614732; Silver-Russell syndrome
Fetal anomalies v0.409 CDKN1C Zornitza Stark Publications for gene: CDKN1C were set to
Fetal anomalies v0.408 CDKN1C Zornitza Stark Deleted their comment
Fetal anomalies v0.408 CDKN1C Zornitza Stark edited their review of gene: CDKN1C: Added comment: LoF variants in this gene cause overgrowth and BWS.

IMAGe syndrome: reported variants are gain-of-function missense on the maternal allele, and are located in a highly-conserved "hot-spot" within the PCNA-binding domain of CDKN1C between codons 272-279. Note 3 families reported with RSS phenotype without other IMAGE features, all with missense changes at amino acid positions 279 and 281.

Can present antenatally with macrosomia/IUGR respectively.; Changed rating: GREEN; Changed publications: 10424811, 8841187, 22205991, 20503313, 19843502, 15372379, 23511928, 30794780, 33076988, 31976094, 31497289; Changed phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650, IMAGe syndrome, MIM# 614732, Silver-Russell syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Genetic Epilepsy v0.1393 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Genetic Epilepsy v0.1393 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1393 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from to Developmental and epileptic encephalopathy 2, MIM# 300672
Genetic Epilepsy v0.1392 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Genetic Epilepsy v0.1391 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)
Genetic Epilepsy v0.1390 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 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)
Intellectual disability syndromic and non-syndromic v0.4266 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Intellectual disability syndromic and non-syndromic v0.4266 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4266 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from to Developmental and epileptic encephalopathy 2, MIM# 300672
Intellectual disability syndromic and non-syndromic v0.4265 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Intellectual disability syndromic and non-syndromic v0.4264 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)
Intellectual disability syndromic and non-syndromic v0.4263 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 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)
Fetal anomalies v0.408 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Fetal anomalies v0.408 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Fetal anomalies v0.408 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 to Developmental and epileptic encephalopathy 2, MIM# 300672
Fetal anomalies v0.407 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to 19793311
Fetal anomalies v0.407 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Fetal anomalies v0.406 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 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)
Fetal anomalies v0.406 CDK13 Zornitza Stark Mode of inheritance for gene: CDK13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.405 CDK13 Zornitza Stark Deleted their comment
Fetal anomalies v0.405 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Fetal anomalies v0.405 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Fetal anomalies v0.405 CDK13 Zornitza Stark Phenotypes for gene: CDK13 were changed from Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360
Fetal anomalies v0.404 CDK13 Zornitza Stark Publications for gene: CDK13 were set to
Mendeliome v0.9707 CDH3 Zornitza Stark Marked gene: CDH3 as ready
Mendeliome v0.9707 CDH3 Zornitza Stark Gene: cdh3 has been classified as Green List (High Evidence).
Mendeliome v0.9707 CDH3 Zornitza Stark Phenotypes for gene: CDH3 were changed from to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553
Mendeliome v0.9706 CDH3 Zornitza Stark Publications for gene: CDH3 were set to
Mendeliome v0.9705 CDH3 Zornitza Stark Mode of inheritance for gene: CDH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9704 CDH3 Zornitza Stark reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11544476, 15805154, 28061825, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.403 CDH3 Zornitza Stark Marked gene: CDH3 as ready
Fetal anomalies v0.403 CDH3 Zornitza Stark Gene: cdh3 has been classified as Green List (High Evidence).
Fetal anomalies v0.403 CDH3 Zornitza Stark Phenotypes for gene: CDH3 were changed from EEM SYNDROME; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280
Fetal anomalies v0.402 CDH3 Zornitza Stark Publications for gene: CDH3 were set to
Fetal anomalies v0.401 CDH3 Zornitza Stark reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805154, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.148 CDH1 Zornitza Stark Marked gene: CDH1 as ready
Clefting disorders v0.148 CDH1 Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence).
Clefting disorders v0.148 CDH1 Zornitza Stark Phenotypes for gene: CDH1 were changed from Blepharocheilodontic syndrome 1; BLEPHAROCHEILODONTIC to Blepharocheilodontic syndrome 1, MIM# 119580
Clefting disorders v0.147 CDH1 Zornitza Stark Publications for gene: CDH1 were set to 27566442; 28301459
Clefting disorders v0.146 CDH1 Zornitza Stark Mode of inheritance for gene: CDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.145 CDH1 Zornitza Stark reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301459; Phenotypes: Blepharocheilodontic syndrome 1, MIM# 119580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.401 CDH1 Zornitza Stark Marked gene: CDH1 as ready
Fetal anomalies v0.401 CDH1 Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence).
Fetal anomalies v0.401 CDH1 Zornitza Stark Phenotypes for gene: CDH1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 1, MIM# 119580
Fetal anomalies v0.400 CDH1 Zornitza Stark Publications for gene: CDH1 were set to
Fetal anomalies v0.399 CDH1 Zornitza Stark Mode of inheritance for gene: CDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.398 CDH1 Zornitza Stark reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301459; Phenotypes: Blepharocheilodontic syndrome 1, MIM# 119580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.398 CDC6 Zornitza Stark Marked gene: CDC6 as ready
Fetal anomalies v0.398 CDC6 Zornitza Stark Gene: cdc6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.398 CDC6 Zornitza Stark Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5 (MIM#613805)
Fetal anomalies v0.397 CDC6 Zornitza Stark Publications for gene: CDC6 were set to
Fetal anomalies v0.396 CDC6 Zornitza Stark Classified gene: CDC6 as Red List (low evidence)
Fetal anomalies v0.396 CDC6 Zornitza Stark Gene: cdc6 has been classified as Red List (Low Evidence).
Growth failure v1.20 CDC45 Zornitza Stark Marked gene: CDC45 as ready
Growth failure v1.20 CDC45 Zornitza Stark Gene: cdc45 has been classified as Green List (High Evidence).
Growth failure v1.20 CDC45 Zornitza Stark Classified gene: CDC45 as Green List (high evidence)
Growth failure v1.20 CDC45 Zornitza Stark Gene: cdc45 has been classified as Green List (High Evidence).
Growth failure v1.19 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC45 were set to 31474763; 27374770
Phenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, MIM 617063
Review for gene: CDC45 was set to GREEN
Added comment: More than 10 families reported, short stature is a defining feature.
Sources: Expert Review
Fetal anomalies v0.395 CDC45 Zornitza Stark Marked gene: CDC45 as ready
Fetal anomalies v0.395 CDC45 Zornitza Stark Gene: cdc45 has been classified as Green List (High Evidence).
Fetal anomalies v0.395 CDC45 Zornitza Stark Phenotypes for gene: CDC45 were changed from Meier-Gorlin Syndrome and Craniosynostosis to Meier-Gorlin syndrome 7, MIM 617063
Fetal anomalies v0.394 CDC45 Zornitza Stark Publications for gene: CDC45 were set to
Fetal anomalies v0.393 CDC45 Zornitza Stark reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 31474763, 27374770; Phenotypes: Meier-Gorlin syndrome 7, MIM 617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1390 EFHC1 Zornitza Stark Tag disputed tag was added to gene: EFHC1.
Mendeliome v0.9704 EFHC1 Zornitza Stark Tag disputed tag was added to gene: EFHC1.
Mendeliome v0.9704 CPA6 Zornitza Stark Tag refuted tag was added to gene: CPA6.
Tag disputed tag was added to gene: CPA6.
Genetic Epilepsy v0.1390 CPA6 Zornitza Stark Tag refuted tag was added to gene: CPA6.
Tag disputed tag was added to gene: CPA6.
Genetic Epilepsy v0.1390 SCN9A Zornitza Stark Publications for gene: SCN9A were set to 19763161; 29500686; 30834459; 23895530
Mendeliome v0.9704 MICAL1 Zornitza Stark Marked gene: MICAL1 as ready
Mendeliome v0.9704 MICAL1 Zornitza Stark Gene: mical1 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.60 FLNC Zornitza Stark Publications for gene: FLNC were set to 31924696
Arrhythmogenic Cardiomyopathy v0.59 FLNC Zornitza Stark Classified gene: FLNC as Green List (high evidence)
Arrhythmogenic Cardiomyopathy v0.59 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Mendeliome v0.9704 EFHC1 Zornitza Stark reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.1389 RYR3 Zornitza Stark Marked gene: RYR3 as ready
Genetic Epilepsy v0.1389 RYR3 Zornitza Stark Gene: ryr3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1389 SLC46A1 Bryony Thompson Marked gene: SLC46A1 as ready
Genetic Epilepsy v0.1389 SLC46A1 Bryony Thompson Gene: slc46a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1389 SLC46A1 Bryony Thompson Classified gene: SLC46A1 as Green List (high evidence)
Genetic Epilepsy v0.1389 SLC46A1 Bryony Thompson Gene: slc46a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1388 RYR3 Bryony Thompson Classified gene: RYR3 as Amber List (moderate evidence)
Genetic Epilepsy v0.1388 RYR3 Bryony Thompson Gene: ryr3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1387 RYR3 Bryony Thompson gene: RYR3 was added
gene: RYR3 was added to Genetic Epilepsy. Sources: ClinGen
Mode of inheritance for gene: RYR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RYR3 were set to 25262651
Phenotypes for gene: RYR3 were set to undetermined early-onset epileptic encephalopathy (MONDO:0018614)
Review for gene: RYR3 was set to AMBER
Added comment: 2 probands with different de novo missense variants in a single publication. Classified as Limited by ClinGen Epilepsy GCEP - Classification - 06/19/2018.
Sources: ClinGen
Mendeliome v0.9704 EFHC1 Bryony Thompson Classified gene: EFHC1 as Red List (low evidence)
Mendeliome v0.9704 EFHC1 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP gene-disease association curation: Disputed - We have disregarded the very limited functional evidence in light of the complete lack of genetic evidence connecting EFHC1 and epilepsy. In summary, there is convincing evidence disputing the association between EFHC1 and epilepsy. All variants in EFHC1 associated with epilepsy have contradictory evidence for disease association (too common in ExAC/gnomAD, with minor allele frequencies (MAF) of 2.857e-5 to 0.05973). More evidence is needed to either support or refute the role EFHC1 plays in this disease. Classification - 07/27/2018, reviewed Sept 2021
Mendeliome v0.9704 EFHC1 Bryony Thompson Gene: efhc1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1386 EFHC1 Bryony Thompson Classified gene: EFHC1 as Red List (low evidence)
Genetic Epilepsy v0.1386 EFHC1 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP gene-disease association curation: Disputed - We have disregarded the very limited functional evidence in light of the complete lack of genetic evidence connecting EFHC1 and epilepsy. In summary, there is convincing evidence disputing the association between EFHC1 and epilepsy. All variants in EFHC1 associated with epilepsy have contradictory evidence for disease association (too common in ExAC/gnomAD, with minor allele frequencies (MAF) of 2.857e-5 to 0.05973). More evidence is needed to either support or refute the role EFHC1 plays in this disease. Classification - 07/27/2018, reviewed Sept 2021
Genetic Epilepsy v0.1386 EFHC1 Bryony Thompson Gene: efhc1 has been classified as Red List (Low Evidence).
Progressive Myoclonic Epilepsy v0.13 DNAJC5 Bryony Thompson Marked gene: DNAJC5 as ready
Progressive Myoclonic Epilepsy v0.13 DNAJC5 Bryony Thompson Gene: dnajc5 has been classified as Green List (High Evidence).
Fetal anomalies v0.393 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Fetal anomalies v0.393 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Fetal anomalies v0.393 CDAN1 Zornitza Stark Phenotypes for gene: CDAN1 were changed from Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135; Dyserythropoietic anemia, congenital, type Ia, OMIM:224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM#224120
Fetal anomalies v0.392 CDAN1 Zornitza Stark Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085
Fetal anomalies v0.391 CDAN1 Zornitza Stark reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1385 DNAJC5 Bryony Thompson Marked gene: DNAJC5 as ready
Genetic Epilepsy v0.1385 DNAJC5 Bryony Thompson Gene: dnajc5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1385 DNAJC5 Bryony Thompson Classified gene: DNAJC5 as Green List (high evidence)
Genetic Epilepsy v0.1385 DNAJC5 Bryony Thompson Gene: dnajc5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1384 DNAJC5 Bryony Thompson gene: DNAJC5 was added
gene: DNAJC5 was added to Genetic Epilepsy. Sources: ClinGen
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJC5 were set to 22978711; 21820099; 22235333; 31919451; 26659577
Phenotypes for gene: DNAJC5 were set to adult neuronal ceroid lipofuscinosis (MONDO:0019260)
Review for gene: DNAJC5 was set to GREEN
Added comment: ClinGen Epilepsy GCEP gene-disease curation: Moderate, >3 families reported. Classification - 07/30/2021
Sources: ClinGen
Progressive Myoclonic Epilepsy v0.13 DNAJC5 Bryony Thompson Classified gene: DNAJC5 as Green List (high evidence)
Progressive Myoclonic Epilepsy v0.13 DNAJC5 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP gene-disease curation: Moderate, >3 families reported. Classification - 07/30/2021
Progressive Myoclonic Epilepsy v0.13 DNAJC5 Bryony Thompson Gene: dnajc5 has been classified as Green List (High Evidence).
Progressive Myoclonic Epilepsy v0.12 DNAJC5 Bryony Thompson Publications for gene: DNAJC5 were set to
Fetal anomalies v0.391 CCND2 Zornitza Stark Marked gene: CCND2 as ready
Fetal anomalies v0.391 CCND2 Zornitza Stark Gene: ccnd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.391 CCND2 Zornitza Stark Phenotypes for gene: CCND2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938
Fetal anomalies v0.390 CCND2 Zornitza Stark Publications for gene: CCND2 were set to
Fetal anomalies v0.389 CCND2 Zornitza Stark Mode of pathogenicity for gene: CCND2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.388 CCND2 Zornitza Stark reviewed gene: CCND2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.388 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
Fetal anomalies v0.388 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Green List (High Evidence).
Fetal anomalies v0.388 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from CILIARY DYSKINESIA, PRIMARY, 15 to Ciliary dyskinesia, primary, 15, MIM#613808
Fetal anomalies v0.387 CCDC40 Zornitza Stark Publications for gene: CCDC40 were set to
Fetal anomalies v0.386 CCDC40 Zornitza Stark changed review comment from: Over 40 unrelated families reported.; to: Over 40 unrelated families reported. Approximately half had situs inversus.
Fetal anomalies v0.386 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
Fetal anomalies v0.386 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Green List (High Evidence).
Fetal anomalies v0.386 CCDC39 Zornitza Stark Phenotypes for gene: CCDC39 were changed from CILIARY DYSKINESIA, PRIMARY, 14 to Ciliary dyskinesia, primary, 14, MIM# 613807
Fetal anomalies v0.385 CCDC39 Zornitza Stark Publications for gene: CCDC39 were set to
Fetal anomalies v0.384 CCDC39 Zornitza Stark changed review comment from: Over 20 unrelated families reported.; to: Over 20 unrelated families reported. Situs inverses in approximately half.
Fetal anomalies v0.384 CCDC114 Zornitza Stark Marked gene: CCDC114 as ready
Fetal anomalies v0.384 CCDC114 Zornitza Stark Gene: ccdc114 has been classified as Green List (High Evidence).
Fetal anomalies v0.384 CCDC114 Zornitza Stark Phenotypes for gene: CCDC114 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 20, MIM# 615067
Fetal anomalies v0.383 CCDC114 Zornitza Stark Publications for gene: CCDC114 were set to
Fetal anomalies v0.382 CCDC103 Zornitza Stark Marked gene: CCDC103 as ready
Fetal anomalies v0.382 CCDC103 Zornitza Stark Gene: ccdc103 has been classified as Green List (High Evidence).
Fetal anomalies v0.382 CCDC103 Zornitza Stark Phenotypes for gene: CCDC103 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 17, MIM# 614679
Fetal anomalies v0.381 CCDC103 Zornitza Stark Publications for gene: CCDC103 were set to
Fetal anomalies v0.380 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Fetal anomalies v0.380 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Fetal anomalies v0.380 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from MECKEL SYNDROME, TYPE 6; JOUBERT SYNDROME 9; COACH SYNDROME to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111
Fetal anomalies v0.379 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Fetal anomalies v0.378 CBL Zornitza Stark Marked gene: CBL as ready
Fetal anomalies v0.378 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Fetal anomalies v0.378 CBL Zornitza Stark Phenotypes for gene: CBL were changed from NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Fetal anomalies v0.377 CBL Zornitza Stark Publications for gene: CBL were set to
Fetal anomalies v0.376 CBL Zornitza Stark Mode of pathogenicity for gene: CBL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.375 CBL Zornitza Stark Mode of inheritance for gene: CBL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.374 CBL Zornitza Stark changed review comment from: Noonan syndrome-like disorder is a developmental disorder characterised by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. Over 20 affected individuals reported.; to: Noonan syndrome-like disorder is a developmental disorder characterised by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. Over 20 affected individuals reported.

Can present antenatally with hydrops or congenital heart disease.
Fetal anomalies v0.374 CASK Zornitza Stark Marked gene: CASK as ready
Fetal anomalies v0.374 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Fetal anomalies v0.374 CASK Zornitza Stark Phenotypes for gene: CASK were changed from MENTAL RETARDATION X-LINKED CASK-RELATED; MRX WITH/WITHOUT NYSTAGMUS; FG SYNDROME TYPE 4 to FG syndrome 4, MIM# 300422; Mental retardation, with or without nystagmus, MIM# 300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Fetal anomalies v0.373 CASK Zornitza Stark Publications for gene: CASK were set to
Fetal anomalies v0.372 CASK Zornitza Stark Mode of inheritance for gene: CASK 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)
Fetal anomalies v0.371 CASK Zornitza Stark changed review comment from: FG syndrome is listed in review articles of arthrogryposis-associated conditions, however I am unable to find specific reports of contractures, or mention of contractures in reviews of CASK-related disorders.; to: CASK-related disorders have microcephaly and structural brain abnormalities as features.
Fetal anomalies v0.371 CASK Zornitza Stark edited their review of gene: CASK: Changed rating: GREEN; Changed phenotypes: FG syndrome 4, MIM# 300422, Mental retardation, with or without nystagmus, MIM# 300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Fetal anomalies v0.371 CACNA1E Zornitza Stark Marked gene: CACNA1E as ready
Fetal anomalies v0.371 CACNA1E Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence).
Fetal anomalies v0.371 CACNA1E Zornitza Stark Phenotypes for gene: CACNA1E were changed from Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias to Epileptic encephalopathy, early infantile, 69, MIM#618285
Fetal anomalies v0.370 CACNA1E Zornitza Stark Publications for gene: CACNA1E were set to 30849329
Fetal anomalies v0.369 CACNA1E Zornitza Stark Mode of inheritance for gene: CACNA1E was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.368 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Fetal anomalies v0.368 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Green List (High Evidence).
Fetal anomalies v0.368 CACNA1C Zornitza Stark Phenotypes for gene: CACNA1C were changed from TIMOTHY SYNDROME to Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447
Fetal anomalies v0.367 CACNA1C Zornitza Stark Publications for gene: CACNA1C were set to
Fetal anomalies v0.366 CACNA1C Zornitza Stark Mode of inheritance for gene: CACNA1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.365 CACNA1C Zornitza Stark reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15454078; Phenotypes: Timothy syndrome, MIM# 601005, Long QT syndrome 8, MIM# 618447; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.365 CA8 Zornitza Stark Marked gene: CA8 as ready
Fetal anomalies v0.365 CA8 Zornitza Stark Gene: ca8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.365 CA8 Zornitza Stark Phenotypes for gene: CA8 were changed from CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227
Fetal anomalies v0.364 CA8 Zornitza Stark Publications for gene: CA8 were set to
Fetal anomalies v0.363 CA8 Zornitza Stark Classified gene: CA8 as Red List (low evidence)
Fetal anomalies v0.363 CA8 Zornitza Stark Gene: ca8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.362 CA8 Zornitza Stark changed review comment from: At least two unrelated families reported, and animal model.; to: Phenotype becomes apparent post-natally; two unrelated families reported, and animal model.
Fetal anomalies v0.362 CA8 Zornitza Stark edited their review of gene: CA8: Changed rating: RED
Fetal anomalies v0.362 CA2 Zornitza Stark Marked gene: CA2 as ready
Fetal anomalies v0.362 CA2 Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence).
Fetal anomalies v0.362 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Fetal anomalies v0.361 CA2 Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype in some patients.; to: Can present perinatally.
Fetal anomalies v0.361 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Fetal anomalies v0.361 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.361 C8orf37 Zornitza Stark Phenotypes for gene: C8orf37 were changed from CONE-ROD DYSTROPHY 16 to Bardet-Biedl syndrome 21, MIM#617406
Fetal anomalies v0.360 C8orf37 Zornitza Stark Publications for gene: C8orf37 were set to
Fetal anomalies v0.359 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Fetal anomalies v0.359 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.358 C8orf37 Zornitza Stark changed review comment from: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies.
Sources: Expert list; to: Two unrelated individuals reported with BBS; note gene has an association with retinal ciliopathies, which would not be detectable antenatally.
Sources: Expert list
Fetal anomalies v0.358 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease associations both with prominent neurological features. More than 10 unrelated families reported with each association.

New gene name is CPLANE1.; to: Well established gene-disease associations, structural brain abnormalities. More than 10 unrelated families reported with each association.

New gene name is CPLANE1.
Fetal anomalies v0.358 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Fetal anomalies v0.358 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Fetal anomalies v0.358 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from JOUBERT SYNDROME to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Fetal anomalies v0.357 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Fetal anomalies v0.357 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Fetal anomalies v0.356 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Fetal anomalies v0.356 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Fetal anomalies v0.356 C21orf2 Zornitza Stark Phenotypes for gene: C21orf2 were changed from Axial Spondylometaphyseal Dysplasia to Spondylometaphyseal dysplasia, axial, MIM# 602271
Fetal anomalies v0.355 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to
Fetal anomalies v0.354 C21orf2 Zornitza Stark changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

New HGNC approved name is CFAP410.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

New HGNC approved name is CFAP410.

Thoracic hypoplasia is present at birth so relevant to this panel.
Arrhythmogenic Cardiomyopathy v0.58 FLNC Elena Savva reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31627847, 31924696; Phenotypes: Arrhythmogenic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9703 MICAL1 Bryony Thompson Classified gene: MICAL1 as Amber List (moderate evidence)
Mendeliome v0.9703 MICAL1 Bryony Thompson Gene: mical1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1383 MICAL1 Bryony Thompson Marked gene: MICAL1 as ready
Genetic Epilepsy v0.1383 MICAL1 Bryony Thompson Gene: mical1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1383 MICAL1 Bryony Thompson Classified gene: MICAL1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1383 MICAL1 Bryony Thompson Gene: mical1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9702 MICAL1 Bryony Thompson gene: MICAL1 was added
gene: MICAL1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MICAL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MICAL1 were set to 29394500; 21638339
Phenotypes for gene: MICAL1 were set to Autosomal dominant epilepsy with auditory features (ADEAF)
Review for gene: MICAL1 was set to AMBER
Added comment: Two families with supporting in vitro functional assays. Assessment of expression pattern of Mical-1 in the temporal neocortex of patients with intractable temporal epilepsy and pilocarpine-induced rat model, suggests Mical-1 may associate with inner pathophysiological modulation in epilepsy.
Sources: Expert list
Genetic Epilepsy v0.1382 MICAL1 Bryony Thompson Classified gene: MICAL1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1382 MICAL1 Bryony Thompson Gene: mical1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1381 MICAL1 Bryony Thompson gene: MICAL1 was added
gene: MICAL1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MICAL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MICAL1 were set to 29394500; 21638339
Phenotypes for gene: MICAL1 were set to Autosomal dominant epilepsy with auditory features (ADEAF)
Review for gene: MICAL1 was set to AMBER
Added comment: Two families with supporting in vitro functional assays. Assessment of expression pattern of Mical-1 in the temporal neocortex of patients with intractable temporal epilepsy and pilocarpine-induced rat model, suggests Mical-1 may associate with inner pathophysiological modulation in epilepsy.
Sources: Expert list
Genetic Epilepsy v0.1380 SCN9A Bryony Thompson Classified gene: SCN9A as Red List (low evidence)
Genetic Epilepsy v0.1380 SCN9A Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP curated gene-disease association with epilepsy: A novel publication provides evidence against pathogenicity for a previously reported variant providing the primary evidence for an association with epilepsy. Classification - 03/09/2021
Genetic Epilepsy v0.1380 SCN9A Bryony Thompson Gene: scn9a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1379 CPA6 Bryony Thompson Classified gene: CPA6 as Red List (low evidence)
Genetic Epilepsy v0.1379 CPA6 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP has reviewed both inheritances for gene-disease associations with epilepsy: AR disease is Disputed - There is contradictory case level and experimental data regarding any association between CPA6 and autosomal recessive epilepsy. Classification - 07/29/2021 AD disease is Refuted- There is very limited evidence supporting a gene-disease association. Many of the reported pathogenic variants have been subsequently identified as having a high minor allele frequency in population databases. Classification - 07/29/2021
Genetic Epilepsy v0.1379 CPA6 Bryony Thompson Gene: cpa6 has been classified as Red List (Low Evidence).
Mendeliome v0.9701 CPA6 Bryony Thompson Classified gene: CPA6 as Red List (low evidence)
Mendeliome v0.9701 CPA6 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP has reviewed both inheritances for gene-disease associations with epilepsy: AR disease is Disputed - There is contradictory case level and experimental data regarding any association between CPA6 and autosomal recessive epilepsy. Classification - 07/29/2021 AD disease is Refuted- There is very limited evidence supporting a gene-disease association. Many of the reported pathogenic variants have been subsequently identified as having a high minor allele frequency in population databases. Classification - 07/29/2021
Mendeliome v0.9701 CPA6 Bryony Thompson Gene: cpa6 has been classified as Red List (Low Evidence).
Mendeliome v0.9700 CNTN2 Bryony Thompson Publications for gene: CNTN2 were set to 23518707
Vascular Malformations SuperPanel v1.8 Bryony Thompson Panel name changed from Vasculopathy SuperPanel to Vascular Malformations SuperPanel
Mendeliome v0.9699 CNTN2 Bryony Thompson Classified gene: CNTN2 as Amber List (moderate evidence)
Mendeliome v0.9699 CNTN2 Bryony Thompson Gene: cntn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9698 CNTN2 Bryony Thompson reviewed gene: CNTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23518707, 34120799, 34691156; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.171 GON7 Zornitza Stark Phenotypes for gene: GON7 were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome 9, MIM# 619603
Proteinuria v0.170 GON7 Zornitza Stark edited their review of gene: GON7: Changed phenotypes: Galloway-Mowat syndrome 9, MIM# 619603
Microcephaly v1.69 GON7 Zornitza Stark Phenotypes for gene: GON7 were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome 9, MIM# 619603
Microcephaly v1.68 GON7 Zornitza Stark edited their review of gene: GON7: Changed phenotypes: Galloway-Mowat syndrome 9, MIM# 619603
Mendeliome v0.9698 GON7 Zornitza Stark Phenotypes for gene: GON7 were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome 9, MIM# 619603
Genetic Epilepsy v0.1378 CNTN2 Bryony Thompson Marked gene: CNTN2 as ready
Genetic Epilepsy v0.1378 CNTN2 Bryony Thompson Gene: cntn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9697 GON7 Zornitza Stark edited their review of gene: GON7: Changed phenotypes: Galloway-Mowat syndrome 9, MIM# 619603
Genetic Epilepsy v0.1378 CNTN2 Bryony Thompson Classified gene: CNTN2 as Amber List (moderate evidence)
Genetic Epilepsy v0.1378 CNTN2 Bryony Thompson Gene: cntn2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1377 CNTN2 Bryony Thompson reviewed gene: CNTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23518707, 34120799, 34691156; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations SuperPanel v1.7 Bryony Thompson Changed child panels to: Vascular Malformations_Germline; Vascular Malformations_Somatic; Mosaic skin disorders; Lymphoedema_nonsyndromic; Lymphoedema_syndromic
Fetal anomalies v0.354 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Fetal anomalies v0.354 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Red List (Low Evidence).
Fetal anomalies v0.354 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 to Combined oxidative phosphorylation deficiency 7, MIM# 613559; Spastic paraplegia 55, autosomal recessive, MIM# 615035
Fetal anomalies v0.353 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Fetal anomalies v0.352 C12orf65 Zornitza Stark Classified gene: C12orf65 as Red List (low evidence)
Fetal anomalies v0.352 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Red List (Low Evidence).
Fetal anomalies v0.351 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: None; Publications: 32478789; Phenotypes: Combined oxidative phosphorylation deficiency 7, MIM# 613559, Spastic paraplegia 55, autosomal recessive, MIM# 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.351 C11orf70 Zornitza Stark Marked gene: C11orf70 as ready
Fetal anomalies v0.351 C11orf70 Zornitza Stark Gene: c11orf70 has been classified as Green List (High Evidence).
Fetal anomalies v0.351 C11orf70 Zornitza Stark Phenotypes for gene: C11orf70 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 38, MIM# 618063
Fetal anomalies v0.350 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Fetal anomalies v0.350 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Fetal anomalies v0.350 BUB1B Zornitza Stark Phenotypes for gene: BUB1B were changed from MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 to Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Fetal anomalies v0.349 BUB1B Zornitza Stark Publications for gene: BUB1B were set to
Fetal anomalies v0.348 BUB1B Zornitza Stark reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18548531; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM# 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.348 BTD Zornitza Stark Marked gene: BTD as ready
Fetal anomalies v0.348 BTD Zornitza Stark Gene: btd has been classified as Red List (Low Evidence).
Fetal anomalies v0.348 BTD Zornitza Stark Phenotypes for gene: BTD were changed from BIOTINIDASE DEFICIENCY to Biotinidase deficiency, MIM# 253260
Fetal anomalies v0.347 BTD Zornitza Stark Classified gene: BTD as Red List (low evidence)
Fetal anomalies v0.347 BTD Zornitza Stark Gene: btd has been classified as Red List (Low Evidence).
Fetal anomalies v0.346 BTD Zornitza Stark reviewed gene: BTD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency, MIM# 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.346 BSND Zornitza Stark Marked gene: BSND as ready
Fetal anomalies v0.346 BSND Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence).
Fetal anomalies v0.346 BSND Zornitza Stark Phenotypes for gene: BSND were changed from BARTTER SYNDROME TYPE 4A to Bartter syndrome, type 4a, MIM#602522
Fetal anomalies v0.345 BSND Zornitza Stark changed review comment from: Downgrade to Amber after review against GEL panel; ID not a consistent/predominant feature of Bartter syndrome.; to: Can present antenatally with polyhydramnios.
Fetal anomalies v0.345 BSND Zornitza Stark Deleted their comment
Fetal anomalies v0.345 BSND Zornitza Stark edited their review of gene: BSND: Changed rating: GREEN
Mendeliome v0.9697 ADSSL1 Zornitza Stark Marked gene: ADSSL1 as ready
Mendeliome v0.9697 ADSSL1 Zornitza Stark Gene: adssl1 has been classified as Green List (High Evidence).
Mendeliome v0.9697 ADSSL1 Zornitza Stark Phenotypes for gene: ADSSL1 were changed from to Myopathy, distal, 5, MIM#617030
Mendeliome v0.9696 ADSSL1 Zornitza Stark Publications for gene: ADSSL1 were set to
Mendeliome v0.9695 ADSSL1 Zornitza Stark Mode of inheritance for gene: ADSSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9694 ADSSL1 Zornitza Stark reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26506222; Phenotypes: Myopathy, distal, 5, MIM#617030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.20 EXOSC9 Zornitza Stark Classified gene: EXOSC9 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.20 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.19 EXOSC9 Zornitza Stark reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1D 618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.345 BRPF1 Zornitza Stark Marked gene: BRPF1 as ready
Fetal anomalies v0.345 BRPF1 Zornitza Stark Gene: brpf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.345 BRPF1 Zornitza Stark Phenotypes for gene: BRPF1 were changed from BRPF1 associated syndromic intellectual disability with ptosis to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333; MONDO:0015022
Fetal anomalies v0.344 BRPF1 Zornitza Stark Publications for gene: BRPF1 were set to
Fetal anomalies v0.343 BRPF1 Zornitza Stark Mode of inheritance for gene: BRPF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.342 BRPF1 Zornitza Stark changed review comment from: Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures. At least 10 unrelated families reported.; to: Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures. At least 10 unrelated families reported.

IUGR reported in some.
Fetal anomalies v0.342 BRIP1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, multiple congenital anomaly syndrome.
Fetal anomalies v0.342 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Fetal anomalies v0.342 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Fetal anomalies v0.342 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP J to Fanconi anemia, complementation group J, MIM# 609054
Fetal anomalies v0.341 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Fetal anomalies v0.341 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Fetal anomalies v0.341 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 to Fanconi anaemia, complementation group D1, MIM# 605724
Fetal anomalies v0.340 BRCA2 Zornitza Stark changed review comment from: Single affected individual reported, although FA is a multiple congenital anomaly syndrome.
Sources: Literature; to: Well established gene-disease association, FA is a multiple congenital anomaly syndrome.
Sources: Literature
Fetal anomalies v0.340 BRCA2 Zornitza Stark edited their review of gene: BRCA2: Changed rating: GREEN; Changed phenotypes: Fanconi anaemia, complementation group D1, MIM# 605724
Mendeliome v0.9694 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Mendeliome v0.9694 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Mendeliome v0.9694 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498
Mendeliome v0.9693 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to
Mendeliome v0.9692 BRAT1 Zornitza Stark Mode of inheritance for gene: BRAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9691 BRAT1 Zornitza Stark changed review comment from: At least 4 individuals reported from unrelated families and bi-allelic variants in this gene.
Sources: Expert list; to: Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) to neurodevelopmental disorder and cerebellar atrophy with or without seizures (NEDCAS), without obvious genotype-phenotype associations.

Multiple families reported with each.
Mendeliome v0.9691 BRAT1 Zornitza Stark edited their review of gene: BRAT1: Changed publications: 26483087, 26494257, 27282546, 22279524, 23035047, 25319849, 25500575, 34747546; Changed phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056, Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498
Fetal anomalies v0.340 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Fetal anomalies v0.340 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Fetal anomalies v0.340 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498
Fetal anomalies v0.339 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to 23035047
Fetal anomalies v0.338 BRAT1 Zornitza Stark Deleted their comment
Fetal anomalies v0.338 BRAT1 Zornitza Stark edited their review of gene: BRAT1: Added comment: RMFSL: Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life. More than 5 unrelated families reported.

Neurodevelopmental disorder with cerebellar atrophy, with or without seizures: at least 4 families reported with this milder disorder, which typically has onset in infancy. The two disorders likely represent a continuum.

Both disorders associated with this gene have microcephaly as a feature.; Changed publications: 26483087, 26494257, 27282546, 22279524, 23035047, 25319849, 25500575
Fetal anomalies v0.338 BRAT1 Zornitza Stark edited their review of gene: BRAT1: Changed phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056, Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498
Pulmonary Fibrosis_Interstitial Lung Disease v0.37 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Intellectual disability syndromic and non-syndromic v0.4263 SRCAP Zornitza Stark Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome MIM#136140; Neurodevelopmental disorder, non-Floating Harbor to Floating-Harbor syndrome MIM#136140; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595
Intellectual disability syndromic and non-syndromic v0.4262 SRCAP Zornitza Stark edited their review of gene: SRCAP: Changed phenotypes: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595
Mendeliome v0.9691 SRCAP Zornitza Stark Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome MIM#136140; Neurodevelopmental disorder, non-Floating Harbor to Floating-Harbor syndrome MIM#136140; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595
Mendeliome v0.9690 SRCAP Zornitza Stark edited their review of gene: SRCAP: Changed phenotypes: Floating-Harbor syndrome MIM#136140, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595
Mendeliome v0.9690 CFAP45 Zornitza Stark Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608
Mendeliome v0.9689 CFAP45 Zornitza Stark edited their review of gene: CFAP45: Changed phenotypes: Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608
Heterotaxy v1.12 CFAP45 Zornitza Stark Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608
Heterotaxy v1.11 CFAP45 Zornitza Stark edited their review of gene: CFAP45: Changed phenotypes: Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608
Mendeliome v0.9689 CFAP52 Zornitza Stark Phenotypes for gene: CFAP52 were changed from Heterotaxy to Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607
Mendeliome v0.9688 CFAP52 Zornitza Stark edited their review of gene: CFAP52: Changed phenotypes: Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607
Heterotaxy v1.11 CFAP52 Zornitza Stark Phenotypes for gene: CFAP52 were changed from Heterotaxy to Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607
Heterotaxy v1.10 CFAP52 Zornitza Stark edited their review of gene: CFAP52: Changed phenotypes: Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607
Fetal anomalies v0.338 BRAF Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Hydrops and congenital heart disease are key features.
Fetal anomalies v0.338 BRAF Zornitza Stark Marked gene: BRAF as ready
Fetal anomalies v0.338 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Fetal anomalies v0.338 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from NOONAN SYNDROME TYPE 7; CARDIOFACIOCUTANEOUS SYNDROME; LEOPARD SYNDROME TYPE 3 to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150
Fetal anomalies v0.337 BRAF Zornitza Stark Publications for gene: BRAF were set to
Fetal anomalies v0.336 BRAF Zornitza Stark Mode of pathogenicity for gene: BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.9688 BMPR1B Zornitza Stark Marked gene: BMPR1B as ready
Mendeliome v0.9688 BMPR1B Zornitza Stark Gene: bmpr1b has been classified as Green List (High Evidence).
Mendeliome v0.9688 BMPR1B Zornitza Stark Phenotypes for gene: BMPR1B were changed from to Acromesomelic dysplasia, Demirhan type, MIM# 609441; Brachydactyly, type A1, D, MIM# 616849; Brachydactyly, type A2, MIM# 112600
Mendeliome v0.9687 BMPR1B Zornitza Stark Publications for gene: BMPR1B were set to
Mendeliome v0.9686 BMPR1B Zornitza Stark Mode of inheritance for gene: BMPR1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9685 BMPR1B Zornitza Stark reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076, 25758993, 14523231, 14523231; Phenotypes: Acromesomelic dysplasia, Demirhan type, MIM# 609441, Brachydactyly, type A1, D, MIM# 616849, Brachydactyly, type A2, MIM# 112600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.335 BMPR1B Zornitza Stark Marked gene: BMPR1B as ready
Fetal anomalies v0.335 BMPR1B Zornitza Stark Gene: bmpr1b has been classified as Green List (High Evidence).
Fetal anomalies v0.335 BMPR1B Zornitza Stark Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, OMIM:609441 to Acromesomelic dysplasia, Demirhan type, MIM# 609441
Fetal anomalies v0.334 BMPR1B Zornitza Stark Publications for gene: BMPR1B were set to
Fetal anomalies v0.333 BMPR1B Zornitza Stark reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076; Phenotypes: Acromesomelic dysplasia, Demirhan type, MIM# 609441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9685 BMPER Zornitza Stark Marked gene: BMPER as ready
Mendeliome v0.9685 BMPER Zornitza Stark Gene: bmper has been classified as Green List (High Evidence).
Mendeliome v0.9685 BMPER Zornitza Stark Phenotypes for gene: BMPER were changed from to Diaphanospondylodysostosis, MIM#608022
Mendeliome v0.9684 BMPER Zornitza Stark Publications for gene: BMPER were set to
Mendeliome v0.9683 BMPER Zornitza Stark Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9682 BMPER Zornitza Stark Deleted their comment
Mendeliome v0.9682 BMPER Zornitza Stark commented on gene: BMPER: Perinatal lethal skeletal dysplasia.

The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases.

At least 5 unrelated families reported.
Mendeliome v0.9682 BMPER Zornitza Stark edited their review of gene: BMPER: Changed publications: 20869035, 30006055
Fetal anomalies v0.333 BMPER Zornitza Stark Marked gene: BMPER as ready
Fetal anomalies v0.333 BMPER Zornitza Stark Gene: bmper has been classified as Green List (High Evidence).
Fetal anomalies v0.333 BMPER Zornitza Stark Phenotypes for gene: BMPER were changed from DIAPHANOSPONDYLODYSOSTOSIS to Diaphanospondylodysostosis, MIM#608022
Fetal anomalies v0.332 BMPER Zornitza Stark Publications for gene: BMPER were set to
Fetal anomalies v0.331 BMPER Zornitza Stark changed review comment from: Perinatal lethal skeletal dysplasia.

The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases; to: Perinatal lethal skeletal dysplasia.

The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases.

At least 5 unrelated families reported.
Fetal anomalies v0.331 BMPER Zornitza Stark Deleted their comment
Fetal anomalies v0.331 BMPER Zornitza Stark edited their review of gene: BMPER: Changed publications: 20869035, 30006055
Fetal anomalies v0.331 BMPER Zornitza Stark changed review comment from: Perinatal lethal skeletal dysplasia.; to: Perinatal lethal skeletal dysplasia.

The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases
Fetal anomalies v0.331 BMPER Zornitza Stark changed review comment from: Perinatal lethal skeletal dysplasia, not appropriate for this panel.; to: Perinatal lethal skeletal dysplasia.
Fetal anomalies v0.331 BMPER Zornitza Stark edited their review of gene: BMPER: Changed rating: GREEN
Mendeliome v0.9682 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Mendeliome v0.9682 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Mendeliome v0.9682 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from to Orofacial cleft 11 600625; Microphthalmia, syndromic 6, MIM# 607932
Mendeliome v0.9681 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Mendeliome v0.9680 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9679 BMP4 Zornitza Stark reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31053785, 19249007, 31909686, 21340693; Phenotypes: Orofacial cleft 11 600625, Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.331 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Fetal anomalies v0.331 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Fetal anomalies v0.331 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from OROFACIAL CLEFT 11; MICROPHTHALMIA, SYNDROMIC 6 to Orofacial cleft 11 600625; Microphthalmia, syndromic 6, MIM# 607932
Fetal anomalies v0.330 BMP4 Zornitza Stark Publications for gene: BMP4 were set to 21340693; 31053785
Fetal anomalies v0.329 BMP4 Zornitza Stark changed review comment from: Variants in this gene are associated with both syndromic and non-syndromic CL/P, over 20 families reported. Note some of the variants reported with isolated CL/P are susceptibility alleles.

Deletions reported.; to: Variants in this gene are associated with both syndromic and non-syndromic CL/P, over 20 families reported.

Note some of the variants reported with isolated CL/P are susceptibility alleles.

Deletions reported.
Fetal anomalies v0.329 BMP4 Zornitza Stark changed review comment from: Variants in this gene are associated with both syndromic and non-syndromic CL/P. Note some of the variants reported with isolated CL/P are susceptibility alleles.; to: Variants in this gene are associated with both syndromic and non-syndromic CL/P, over 20 families reported. Note some of the variants reported with isolated CL/P are susceptibility alleles.

Deletions reported.
Fetal anomalies v0.329 BMP4 Zornitza Stark Deleted their comment
Fetal anomalies v0.329 BMP4 Zornitza Stark edited their review of gene: BMP4: Added comment: Variants in this gene are associated with both syndromic and non-syndromic CL/P. Note some of the variants reported with isolated CL/P are susceptibility alleles.; Changed publications: 31053785, 19249007, 31909686, 21340693; Changed phenotypes: Orofacial cleft 11 600625, Microphthalmia, syndromic 6, MIM# 607932
Fetal anomalies v0.329 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Fetal anomalies v0.328 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.327 BMP4 Zornitza Stark Tag SV/CNV tag was added to gene: BMP4.
Mendeliome v0.9679 BMP2 Zornitza Stark Marked gene: BMP2 as ready
Mendeliome v0.9679 BMP2 Zornitza Stark Gene: bmp2 has been classified as Green List (High Evidence).
Mendeliome v0.9679 BMP2 Zornitza Stark Phenotypes for gene: BMP2 were changed from to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877
Mendeliome v0.9678 BMP2 Zornitza Stark Publications for gene: BMP2 were set to
Mendeliome v0.9677 BMP2 Zornitza Stark Mode of inheritance for gene: BMP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9676 BMP2 Zornitza Stark reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198724; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.327 BMP2 Zornitza Stark Marked gene: BMP2 as ready
Fetal anomalies v0.327 BMP2 Zornitza Stark Gene: bmp2 has been classified as Green List (High Evidence).
Fetal anomalies v0.327 BMP2 Zornitza Stark Phenotypes for gene: BMP2 were changed from Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Brachydactyly, type A2 112600 to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877
Fetal anomalies v0.326 BMP2 Zornitza Stark Publications for gene: BMP2 were set to
Fetal anomalies v0.325 BMP2 Zornitza Stark Mode of inheritance for gene: BMP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.324 BMP2 Zornitza Stark reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198724; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.68 BMP1 Zornitza Stark Marked gene: BMP1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.68 BMP1 Zornitza Stark Gene: bmp1 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.68 BMP1 Zornitza Stark Phenotypes for gene: BMP1 were changed from to Osteogenesis imperfecta, type XIII , MIM#614856
Osteogenesis Imperfecta and Osteoporosis v0.67 BMP1 Zornitza Stark Publications for gene: BMP1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.66 BMP1 Zornitza Stark Mode of inheritance for gene: BMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.65 BMP1 Zornitza Stark reviewed gene: BMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25402547, 22052668, 22482805, 25214535; Phenotypes: Osteogenesis imperfecta, type XIII , MIM#614856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9676 BMP1 Zornitza Stark Marked gene: BMP1 as ready
Mendeliome v0.9676 BMP1 Zornitza Stark Gene: bmp1 has been classified as Green List (High Evidence).
Mendeliome v0.9676 BMP1 Zornitza Stark Phenotypes for gene: BMP1 were changed from to Osteogenesis imperfecta, type XIII , MIM#614856
Mendeliome v0.9675 BMP1 Zornitza Stark Publications for gene: BMP1 were set to
Mendeliome v0.9674 BMP1 Zornitza Stark Mode of inheritance for gene: BMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9673 BMP1 Zornitza Stark reviewed gene: BMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25402547, 22052668, 22482805, 25214535; Phenotypes: Osteogenesis imperfecta, type XIII , MIM#614856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.324 BMP1 Zornitza Stark Marked gene: BMP1 as ready
Fetal anomalies v0.324 BMP1 Zornitza Stark Gene: bmp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.324 BMP1 Zornitza Stark Phenotypes for gene: BMP1 were changed from Osteogenesis imperfecta type XIII 614856 to Osteogenesis imperfecta, type XIII , MIM#614856
Fetal anomalies v0.323 BMP1 Zornitza Stark Publications for gene: BMP1 were set to 28513615
Fetal anomalies v0.322 BMP1 Zornitza Stark changed review comment from: Well established gene-disease association. Prenatal fractures reported.; to: Well established gene-disease association. Prenatal fractures reported, PMID 25402547.
Fetal anomalies v0.322 BMP1 Zornitza Stark reviewed gene: BMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25402547, 22052668, 22482805, 25214535; Phenotypes: Osteogenesis imperfecta, type XIII , MIM#614856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.322 BLM Zornitza Stark Marked gene: BLM as ready
Fetal anomalies v0.322 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Fetal anomalies v0.322 BLM Zornitza Stark Phenotypes for gene: BLM were changed from BLOOM SYNDROME to Bloom Syndrome MIM# 210900
Fetal anomalies v0.321 BLM Zornitza Stark Publications for gene: BLM were set to
Fetal anomalies v0.320 BLM Zornitza Stark reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9673 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Mendeliome v0.9673 BIN1 Zornitza Stark Gene: bin1 has been classified as Green List (High Evidence).
Mendeliome v0.9673 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from to Centronuclear myopathy 2, MIM# 255200
Mendeliome v0.9672 BIN1 Zornitza Stark Publications for gene: BIN1 were set to
Mendeliome v0.9671 BIN1 Zornitza Stark Mode of inheritance for gene: BIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9670 BIN1 Zornitza Stark reviewed gene: BIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17676042; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.320 BIN1 Zornitza Stark Publications for gene: BIN1 were set to 17676042; 17676042
Fetal anomalies v0.319 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Fetal anomalies v0.319 BIN1 Zornitza Stark Gene: bin1 has been classified as Green List (High Evidence).
Fetal anomalies v0.319 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from CENTRONUCLEAR MYOPATHY 2 to Centronuclear myopathy 2, MIM# 255200
Fetal anomalies v0.318 BIN1 Zornitza Stark Publications for gene: BIN1 were set to
Fetal anomalies v0.317 BIN1 Zornitza Stark changed review comment from: ID is generally not part of the phenotype of this myopathy, mild ID reported in one individual only.; to: Variable onset from congenital to childhood. Congenital contractures reported.
Fetal anomalies v0.317 BIN1 Zornitza Stark edited their review of gene: BIN1: Changed publications: 17676042, 17676042
Fetal anomalies v0.317 BIN1 Zornitza Stark edited their review of gene: BIN1: Changed rating: GREEN
Polydactyly v0.242 BHLHA9 Zornitza Stark Marked gene: BHLHA9 as ready
Polydactyly v0.242 BHLHA9 Zornitza Stark Gene: bhlha9 has been classified as Green List (High Evidence).
Polydactyly v0.242 BHLHA9 Zornitza Stark Phenotypes for gene: BHLHA9 were changed from to Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432
Polydactyly v0.241 BHLHA9 Zornitza Stark Publications for gene: BHLHA9 were set to
Polydactyly v0.240 BHLHA9 Zornitza Stark reviewed gene: BHLHA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466284, 34272776, 31912643, 31152918, 30107244; Phenotypes: Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9670 BHLHA9 Zornitza Stark Marked gene: BHLHA9 as ready
Mendeliome v0.9670 BHLHA9 Zornitza Stark Gene: bhlha9 has been classified as Green List (High Evidence).
Mendeliome v0.9670 BHLHA9 Zornitza Stark Phenotypes for gene: BHLHA9 were changed from to Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432
Mendeliome v0.9669 BHLHA9 Zornitza Stark Publications for gene: BHLHA9 were set to
Mendeliome v0.9668 BHLHA9 Zornitza Stark Mode of inheritance for gene: BHLHA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9667 BHLHA9 Zornitza Stark reviewed gene: BHLHA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466284, 34272776, 31912643, 31152918, 30107244; Phenotypes: Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.317 BHLHA9 Zornitza Stark Marked gene: BHLHA9 as ready
Fetal anomalies v0.317 BHLHA9 Zornitza Stark Gene: bhlha9 has been classified as Green List (High Evidence).
Fetal anomalies v0.317 BHLHA9 Zornitza Stark Phenotypes for gene: BHLHA9 were changed from ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432; SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE to Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432
Fetal anomalies v0.316 BHLHA9 Zornitza Stark Publications for gene: BHLHA9 were set to
Fetal anomalies v0.315 BHLHA9 Zornitza Stark Mode of inheritance for gene: BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.314 BHLHA9 Zornitza Stark reviewed gene: BHLHA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466284, 34272776, 31912643, 31152918, 30107244; Phenotypes: Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.314 BGN Zornitza Stark Marked gene: BGN as ready
Fetal anomalies v0.314 BGN Zornitza Stark Gene: bgn has been classified as Red List (Low Evidence).
Fetal anomalies v0.314 BGN Zornitza Stark Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989; X-Linked Spondyloepimetaphyseal Dysplasia; Severe syndromic form of thoracic aortic aneurysm & dissection; Spondyloepimetaphyseal dysplasia, X-linked, 300106 to Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106
Fetal anomalies v0.313 BGN Zornitza Stark Publications for gene: BGN were set to 27236923; 27632686
Fetal anomalies v0.312 BGN Zornitza Stark Classified gene: BGN as Red List (low evidence)
Fetal anomalies v0.312 BGN Zornitza Stark Gene: bgn has been classified as Red List (Low Evidence).
Fetal anomalies v0.311 BGN Zornitza Stark reviewed gene: BGN: Rating: RED; Mode of pathogenicity: None; Publications: 27236923; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hand and foot malformations v0.56 DLL4 Zornitza Stark Marked gene: DLL4 as ready
Hand and foot malformations v0.56 DLL4 Zornitza Stark Gene: dll4 has been classified as Green List (High Evidence).
Hand and foot malformations v0.56 DLL4 Zornitza Stark Publications for gene: DLL4 were set to
Hand and foot malformations v0.55 DLL4 Zornitza Stark reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26299364, 33899511, 31261205, 29924900; Phenotypes: Adams-Oliver syndrome 6 MIM#616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.142 DLL4 Zornitza Stark Marked gene: DLL4 as ready
Congenital Heart Defect v0.142 DLL4 Zornitza Stark Gene: dll4 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.142 DLL4 Zornitza Stark Phenotypes for gene: DLL4 were changed from to Adams-Oliver syndrome 6 MIM#616589
Congenital Heart Defect v0.141 DLL4 Zornitza Stark Publications for gene: DLL4 were set to
Congenital Heart Defect v0.140 DLL4 Zornitza Stark Mode of inheritance for gene: DLL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.139 DLL4 Zornitza Stark reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26299364, 33899511, 31261205, 29924900; Phenotypes: Adams-Oliver syndrome 6 MIM#616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.311 DLL4 Zornitza Stark Publications for gene: DLL4 were set to 26299364
Mendeliome v0.9667 DLL4 Zornitza Stark Marked gene: DLL4 as ready
Mendeliome v0.9667 DLL4 Zornitza Stark Gene: dll4 has been classified as Green List (High Evidence).
Mendeliome v0.9667 DLL4 Zornitza Stark Phenotypes for gene: DLL4 were changed from to Adams-Oliver syndrome 6, MIM#616589
Mendeliome v0.9666 DLL4 Zornitza Stark Publications for gene: DLL4 were set to
Mendeliome v0.9665 DLL4 Zornitza Stark Mode of inheritance for gene: DLL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9664 DLL4 Zornitza Stark reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26299364, 33899511, 31261205, 29924900; Phenotypes: Adams-Oliver syndrome 6 MIM#616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.310 DLL4 Zornitza Stark Marked gene: DLL4 as ready
Fetal anomalies v0.310 DLL4 Zornitza Stark Gene: dll4 has been classified as Green List (High Evidence).
Fetal anomalies v0.310 DLL4 Zornitza Stark Phenotypes for gene: DLL4 were changed from ADAMS-OLIVER SYNDROME 6 to Adams-Oliver syndrome 6, MIM#616589
Fetal anomalies v0.309 DLL4 Zornitza Stark Publications for gene: DLL4 were set to
Fetal anomalies v0.308 DLL4 Zornitza Stark Mode of inheritance for gene: DLL4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.307 DLL4 Belinda Chong reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26299364; Phenotypes: Adams-Oliver syndrome 6 MIM#616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cataract v0.295 BFSP2 Zornitza Stark Marked gene: BFSP2 as ready
Cataract v0.295 BFSP2 Zornitza Stark Gene: bfsp2 has been classified as Green List (High Evidence).
Cataract v0.295 BFSP2 Zornitza Stark Phenotypes for gene: BFSP2 were changed from to Cataract 12, multiple types, MIM# 611597
Cataract v0.294 BFSP2 Zornitza Stark Publications for gene: BFSP2 were set to
Cataract v0.293 BFSP2 Zornitza Stark Mode of inheritance for gene: BFSP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.292 BFSP2 Zornitza Stark reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10729115, 10739768, 15570218, 24654948, 21836522; Phenotypes: Cataract 12, multiple types, MIM# 611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9664 BFSP2 Zornitza Stark Marked gene: BFSP2 as ready
Mendeliome v0.9664 BFSP2 Zornitza Stark Gene: bfsp2 has been classified as Green List (High Evidence).
Mendeliome v0.9664 BFSP2 Zornitza Stark Phenotypes for gene: BFSP2 were changed from to Cataract 12, multiple types, MIM# 611597
Mendeliome v0.9663 BFSP2 Zornitza Stark Publications for gene: BFSP2 were set to
Mendeliome v0.9662 BFSP2 Zornitza Stark Mode of inheritance for gene: BFSP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9661 BFSP2 Zornitza Stark reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10729115, 10739768, 15570218, 24654948, 21836522; Phenotypes: Cataract 12, multiple types, MIM# 611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.307 BFSP2 Zornitza Stark Marked gene: BFSP2 as ready
Fetal anomalies v0.307 BFSP2 Zornitza Stark Gene: bfsp2 has been classified as Green List (High Evidence).
Fetal anomalies v0.307 BFSP2 Zornitza Stark Phenotypes for gene: BFSP2 were changed from CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED to Cataract 12, multiple types, MIM# 611597
Fetal anomalies v0.306 BFSP2 Zornitza Stark Publications for gene: BFSP2 were set to
Fetal anomalies v0.305 BFSP2 Zornitza Stark Mode of inheritance for gene: BFSP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.304 BFSP2 Zornitza Stark reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10729115, 10739768, 15570218, 24654948, 21836522; Phenotypes: Cataract 12, multiple types, MIM# 611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.304 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Fetal anomalies v0.304 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Fetal anomalies v0.304 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from GRACILE syndrome, 603358; GRACILE SYNDROME to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Fetal anomalies v0.303 BCS1L Zornitza Stark Publications for gene: BCS1L were set to 30712880
Fetal anomalies v0.302 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26563427, 24172246, 17314340; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.302 BCOR Zornitza Stark Marked gene: BCOR as ready
Fetal anomalies v0.302 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Fetal anomalies v0.302 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from MICROPHTHALMIA SYNDROMIC TYPE 2 to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Fetal anomalies v0.301 BCOR Zornitza Stark Publications for gene: BCOR were set to
Fetal anomalies v0.300 BCL11A Zornitza Stark Marked gene: BCL11A as ready
Fetal anomalies v0.300 BCL11A Zornitza Stark Gene: bcl11a has been classified as Green List (High Evidence).
Fetal anomalies v0.300 BCL11A Zornitza Stark Phenotypes for gene: BCL11A were changed from INTELLECTUAL DISABILITY to Dias-Logan syndrome, MIM# 617101
Fetal anomalies v0.299 BCL11A Zornitza Stark Publications for gene: BCL11A were set to
Fetal anomalies v0.298 BCL11A Zornitza Stark Mode of inheritance for gene: BCL11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.297 BCAP31 Zornitza Stark Marked gene: BCAP31 as ready
Fetal anomalies v0.297 BCAP31 Zornitza Stark Gene: bcap31 has been classified as Green List (High Evidence).
Fetal anomalies v0.297 BCAP31 Zornitza Stark Phenotypes for gene: BCAP31 were changed from DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Fetal anomalies v0.296 BCAP31 Zornitza Stark Publications for gene: BCAP31 were set to
Fetal anomalies v0.295 BCAP31 Zornitza Stark changed review comment from: More than 20 unrelated families reported. Clinical features include severe intellectual disability (ID), dystonia, deafness, and central hypomyelination. Female carriers are mostly asymptomatic but may present with deafness. Most patients with a LoF pathogenic BCAP31 variant have permanent or transient liver enzyme elevation.; to: More than 20 unrelated families reported. Clinical features include severe intellectual disability (ID), dystonia, deafness, and central hypomyelination. Female carriers are mostly asymptomatic but may present with deafness. Most patients with a LoF pathogenic BCAP31 variant have permanent or transient liver enzyme elevation.

Microcephaly is a feature.
Fetal anomalies v0.295 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Fetal anomalies v0.295 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Fetal anomalies v0.295 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from BARDET-BIEDL SYNDROME TYPE 9 to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Fetal anomalies v0.294 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Fetal anomalies v0.293 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Fetal anomalies v0.293 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Fetal anomalies v0.293 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from BARDET-BIEDL SYNDROME TYPE 7 to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Fetal anomalies v0.292 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Fetal anomalies v0.291 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Fetal anomalies v0.291 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Fetal anomalies v0.291 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from BARDET-BIEDL SYNDROME TYPE 5 to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Fetal anomalies v0.290 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Fetal anomalies v0.289 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Fetal anomalies v0.289 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Fetal anomalies v0.289 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from BARDET-BIEDL SYNDROME TYPE 4 to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Fetal anomalies v0.288 BBS4 Zornitza Stark Publications for gene: BBS4 were set to 28425981
Fetal anomalies v0.287 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Fetal anomalies v0.287 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Fetal anomalies v0.287 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from BARDET-BIEDL SYNDROME TYPE 2 to Bardet-Biedl syndrome 2, MIM# 615981
Fetal anomalies v0.286 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Fetal anomalies v0.285 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Fetal anomalies v0.285 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Fetal anomalies v0.285 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from BARDET-BIEDL SYNDROME TYPE 12 to Bardet-Biedl syndrome 12, MIM# 615989
Fetal anomalies v0.284 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Fetal anomalies v0.283 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Fetal anomalies v0.283 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Fetal anomalies v0.283 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from BARDET-BIEDL SYNDROME TYPE 10 to Bardet-Biedl syndrome 10, MIM# 615987
Fetal anomalies v0.282 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Fetal anomalies v0.281 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Fetal anomalies v0.281 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Fetal anomalies v0.281 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Fetal anomalies v0.280 BBS1 Zornitza Stark changed review comment from: Well established gene-disease association. Renal abnormalities reported.

Some suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.; to: Well established gene-disease association. Renal abnormalities and polydactyly.
Fetal anomalies v0.280 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Fetal anomalies v0.280 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Fetal anomalies v0.280 B4GALT7 Zornitza Stark Phenotypes for gene: B4GALT7 were changed from EHLERS-DANLOS SYNDROME PROGEROID TYPE to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Fetal anomalies v0.279 B4GALT7 Zornitza Stark Publications for gene: B4GALT7 were set to
Fetal anomalies v0.278 B4GALT7 Zornitza Stark changed review comment from: ID is not a consistent feature, and developmental delay, where present is generally mild.; to: Multiple skeletal abnormalities, including talipes.
Fetal anomalies v0.278 B4GALT7 Zornitza Stark edited their review of gene: B4GALT7: Changed rating: GREEN
Fetal anomalies v0.278 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Fetal anomalies v0.278 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Fetal anomalies v0.278 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from PETERS-PLUS SYNDROME 261540 to Peters-plus syndrome, MIM#261540
Fetal anomalies v0.277 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to 29096039
Fetal anomalies v0.276 B3GLCT Zornitza Stark changed review comment from: Retinal coloboma is part of the phenotype.
Sources: Expert list; to: IUGR, cleft lip/palate are part of the phenotype.
Sources: Expert list
Craniosynostosis v1.26 B3GAT3 Zornitza Stark Phenotypes for gene: B3GAT3 were changed from 245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600
Mendeliome v0.9661 B3GAT3 Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: 26 patients from 13 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Multiple skeletal and cardiac abnormalities reported.
Fetal anomalies v0.276 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Fetal anomalies v0.276 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Fetal anomalies v0.276 B3GAT3 Zornitza Stark Publications for gene: B3GAT3 were set to
Fetal anomalies v0.275 B3GAT3 Zornitza Stark changed review comment from: Established gene-disease association.; to: Established gene-disease association. 26 patients from 13 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Multiple skeletal and cardiac abnormalities reported.
Fetal anomalies v0.275 B3GAT3 Zornitza Stark edited their review of gene: B3GAT3: Changed publications: 21763480, 25893793, 26086840, 31988067, 31438591
Fetal anomalies v0.275 B3GAT3 Zornitza Stark changed review comment from: Intellectual disability is not usually a feature of this skeletal dysplasia; to: Established gene-disease association.
Fetal anomalies v0.275 B3GAT3 Zornitza Stark edited their review of gene: B3GAT3: Changed rating: GREEN; Changed publications: 21763480, 25893793, 26086840, 31988067
Fetal anomalies v0.275 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Fetal anomalies v0.275 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Fetal anomalies v0.275 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1; EHLERS-DANLOS SYNDROME to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640
Fetal anomalies v0.274 B3GALT6 Zornitza Stark Publications for gene: B3GALT6 were set to
Fetal anomalies v0.273 B3GALT6 Zornitza Stark changed review comment from: Bi-allelic variants in this gene cause severe skeletal/connective tissue phenotypes, and although developmental delay has been described, it is unclear whether this truly reflects intellectual disability.; to: Bi-allelic variants in this gene cause severe skeletal/connective tissue phenotypes, including IUGR, cleft palate, joint contractures.
Fetal anomalies v0.273 B3GALT6 Zornitza Stark edited their review of gene: B3GALT6: Changed publications: 23664117, 29931299, 29443383
Fetal anomalies v0.273 B3GALT6 Zornitza Stark edited their review of gene: B3GALT6: Changed phenotypes: Al-Gazali syndrome, MIM# 609465, Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640
Fetal anomalies v0.273 B3GALT6 Zornitza Stark edited their review of gene: B3GALT6: Changed rating: GREEN
Fetal anomalies v0.273 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Fetal anomalies v0.273 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.273 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from DKC1-RELATED DYSKERATOSIS CONGENITA; DYSKERATOSIS CONGENITA, X-LINKED to Dyskeratosis congenita, X-linked MIM#305000; Hoyeraal-Hreidarsson syndrome (HHS)
Fetal anomalies v0.272 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Mendeliome v0.9661 HR Zornitza Stark Marked gene: HR as ready
Mendeliome v0.9661 HR Zornitza Stark Gene: hr has been classified as Green List (High Evidence).
Mendeliome v0.9661 HR Zornitza Stark Phenotypes for gene: HR were changed from to Alopecia universalis MIM#203655; Atrichia with papular lesions MIM#209500
Mendeliome v0.9660 HR Zornitza Stark Mode of inheritance for gene: HR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.59 HR Zornitza Stark Marked gene: HR as ready
Ectodermal Dysplasia v0.59 HR Zornitza Stark Gene: hr has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.59 HR Zornitza Stark Phenotypes for gene: HR were changed from Hypotrichosis 4, Atrichia with papular lesions, Alopecia universalis congenita to Alopecia universalis MIM#203655; Atrichia with papular lesions MIM#209500
Ectodermal Dysplasia v0.58 HR Zornitza Stark Mode of inheritance for gene: HR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hair disorders v0.50 HR Zornitza Stark Marked gene: HR as ready
Hair disorders v0.50 HR Zornitza Stark Gene: hr has been classified as Green List (High Evidence).
Hair disorders v0.50 HR Zornitza Stark Phenotypes for gene: HR were changed from Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 to Alopecia universalis MIM#203655; Atrichia with papular lesions MIM#209500
Hair disorders v0.49 HR Zornitza Stark Mode of inheritance for gene: HR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9659 HPSE2 Zornitza Stark Marked gene: HPSE2 as ready
Mendeliome v0.9659 HPSE2 Zornitza Stark Gene: hpse2 has been classified as Green List (High Evidence).
Mendeliome v0.9659 HPSE2 Zornitza Stark Phenotypes for gene: HPSE2 were changed from to Urofacial syndrome 1 MIM#236730
Mendeliome v0.9658 HPSE2 Zornitza Stark Publications for gene: HPSE2 were set to
Mendeliome v0.9657 HPSE2 Zornitza Stark Mode of inheritance for gene: HPSE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9656 HNRNPK Zornitza Stark Publications for gene: HNRNPK were set to 29904177
Mendeliome v0.9655 HNRNPK Zornitza Stark reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 30998304, 26173930, 29904177, 26954065, 28771707; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.271 HNRNPK Zornitza Stark reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 29904177; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9655 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Mendeliome v0.9655 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Mendeliome v0.9655 HNRNPK Zornitza Stark Publications for gene: HNRNPK were set to
Mendeliome v0.9654 HNRNPK Zornitza Stark Phenotypes for gene: HNRNPK were changed from to Au-Kline syndrome MIM#616580
Mendeliome v0.9653 HNRNPK Zornitza Stark Mode of inheritance for gene: HNRNPK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.99 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Deafness_IsolatedAndComplex v1.99 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.99 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from thabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536 to Athabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536
Deafness_IsolatedAndComplex v1.98 HOXA1 Zornitza Stark Classified gene: HOXA1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.98 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v1.1 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Periventricular Grey Matter Heterotopia v1.1 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v1.1 HNRNPK Zornitza Stark Classified gene: HNRNPK as Green List (high evidence)
Periventricular Grey Matter Heterotopia v1.1 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Congenital Heart Defect v0.139 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Congenital Heart Defect v0.139 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Congenital Heart Defect v0.139 HNRNPK Zornitza Stark Classified gene: HNRNPK as Green List (high evidence)
Congenital Heart Defect v0.139 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Clefting disorders v0.145 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Clefting disorders v0.145 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Clefting disorders v0.145 HNRNPK Zornitza Stark Classified gene: HNRNPK as Green List (high evidence)
Clefting disorders v0.145 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Mendeliome v0.9652 HES7 Zornitza Stark Marked gene: HES7 as ready
Mendeliome v0.9652 HES7 Zornitza Stark Gene: hes7 has been classified as Green List (High Evidence).
Mendeliome v0.9652 HES7 Zornitza Stark Phenotypes for gene: HES7 were changed from to Spondylocostal dysostosis 4, autosomal recessive MIM#613686
Mendeliome v0.9651 HES7 Zornitza Stark Publications for gene: HES7 were set to
Mendeliome v0.9650 HES7 Zornitza Stark Mode of inheritance for gene: HES7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9649 DIS3L2 Zornitza Stark Marked gene: DIS3L2 as ready
Mendeliome v0.9649 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Mendeliome v0.9649 DIS3L2 Zornitza Stark Phenotypes for gene: DIS3L2 were changed from to Perlman syndrome MIM# 267000
Mendeliome v0.9648 DIS3L2 Zornitza Stark Publications for gene: DIS3L2 were set to
Mendeliome v0.9647 DIS3L2 Zornitza Stark Mode of inheritance for gene: DIS3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9646 DIS3L2 Zornitza Stark reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22306653, 28328139, 29950491; Phenotypes: Perlman syndrome MIM# 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.271 DIS3L2 Zornitza Stark Marked gene: DIS3L2 as ready
Fetal anomalies v0.271 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Fetal anomalies v0.271 DIS3L2 Zornitza Stark Phenotypes for gene: DIS3L2 were changed from PERLMAN SYNDROME to Perlman syndrome MIM# 267000
Fetal anomalies v0.270 DIS3L2 Zornitza Stark Publications for gene: DIS3L2 were set to
Fetal anomalies v0.269 DHODH Zornitza Stark Marked gene: DHODH as ready
Fetal anomalies v0.269 DHODH Zornitza Stark Gene: dhodh has been classified as Green List (High Evidence).
Fetal anomalies v0.269 DHODH Zornitza Stark Phenotypes for gene: DHODH were changed from POSTAXIAL ACROFACIAL DYSOSTOSIS to Miller syndrome, MIM# 263750
Fetal anomalies v0.268 DHODH Zornitza Stark Publications for gene: DHODH were set to
Intellectual disability syndromic and non-syndromic v0.4262 DDX3X Zornitza Stark Marked gene: DDX3X as ready
Intellectual disability syndromic and non-syndromic v0.4262 DDX3X Zornitza Stark Gene: ddx3x has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4262 DDX3X Zornitza Stark Phenotypes for gene: DDX3X were changed from to Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958
Intellectual disability syndromic and non-syndromic v0.4261 DDX3X Zornitza Stark Publications for gene: DDX3X were set to
Intellectual disability syndromic and non-syndromic v0.4260 DDX3X Zornitza Stark Mode of inheritance for gene: DDX3X 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)
Intellectual disability syndromic and non-syndromic v0.4260 DDX3X Zornitza Stark Mode of inheritance for gene: DDX3X 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 v0.9646 DDX3X Zornitza Stark Marked gene: DDX3X as ready
Mendeliome v0.9646 DDX3X Zornitza Stark Gene: ddx3x has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4259 DDX3X Zornitza Stark reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: None; Publications: 30266093, 26235985, 25533962, 33528536, 30936465, 31274575, 30817323; Phenotypes: Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958; 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 v0.9646 DDX3X Zornitza Stark Phenotypes for gene: DDX3X were changed from to Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958
Mendeliome v0.9645 DDX3X Zornitza Stark Publications for gene: DDX3X were set to
Mendeliome v0.9644 DDX3X Zornitza Stark Mode of inheritance for gene: DDX3X 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 v0.9643 DDX3X Zornitza Stark reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: None; Publications: 30266093, 26235985, 25533962, 33528536, 30936465, 31274575, 30817323; Phenotypes: Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.267 DDX3X Zornitza Stark Marked gene: DDX3X as ready
Fetal anomalies v0.267 DDX3X Zornitza Stark Gene: ddx3x has been classified as Green List (High Evidence).
Fetal anomalies v0.267 DDX3X Zornitza Stark Phenotypes for gene: DDX3X were changed from Intellectual disability; INTELLECTUAL DIABILITY; Mental retardation, X-linked 102, 300958 to Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958
Fetal anomalies v0.266 DDX3X Zornitza Stark Publications for gene: DDX3X were set to 30266093; 26235985; 25533962
Fetal anomalies v0.265 ATAD1 Zornitza Stark Marked gene: ATAD1 as ready
Fetal anomalies v0.265 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Fetal anomalies v0.265 ATAD1 Zornitza Stark Classified gene: ATAD1 as Green List (high evidence)
Fetal anomalies v0.265 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Fetal anomalies v0.264 ATAD1 Zornitza Stark reviewed gene: ATAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperekplexia 4 - #618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.264 HSPD1 Zornitza Stark edited their review of gene: HSPD1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.264 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Fetal anomalies v0.264 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.264 HSPD1 Zornitza Stark Phenotypes for gene: HSPD1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 4 to Leukodystrophy, hypomyelinating, 4, MIM# 612233
Fetal anomalies v0.263 HSPD1 Zornitza Stark Publications for gene: HSPD1 were set to
Fetal anomalies v0.262 HSPD1 Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.261 HSPD1 Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.260 HSPD1 Zornitza Stark reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.260 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, MIM#616287 to Lethal congenital contracture syndrome 8, MIM#616287; MONDO:0014570
Fetal anomalies v0.259 ADCY6 Zornitza Stark Marked gene: ADCY6 as ready
Fetal anomalies v0.259 ADCY6 Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence).
Fetal anomalies v0.259 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8 - #616287 to Lethal congenital contracture syndrome 8, MIM#616287
Fetal anomalies v0.258 ADCY6 Zornitza Stark Publications for gene: ADCY6 were set to 24319099, 26257172, 31846058; 33820833
Fetal anomalies v0.257 ADCY6 Zornitza Stark Classified gene: ADCY6 as Green List (high evidence)
Fetal anomalies v0.257 ADCY6 Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence).
Fetal anomalies v0.256 SIK3 Zornitza Stark Marked gene: SIK3 as ready
Fetal anomalies v0.256 SIK3 Zornitza Stark Gene: sik3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.256 SIK3 Zornitza Stark Classified gene: SIK3 as Amber List (moderate evidence)
Fetal anomalies v0.256 SIK3 Zornitza Stark Gene: sik3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.255 SIK3 Zornitza Stark reviewed gene: SIK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30232230, 22318228; Phenotypes: Spondyloepimetaphyseal dysplasia, Krakow type - #618162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9643 SIK3 Zornitza Stark Marked gene: SIK3 as ready
Mendeliome v0.9643 SIK3 Zornitza Stark Gene: sik3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9643 SIK3 Zornitza Stark Phenotypes for gene: SIK3 were changed from ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162 to Spondyloepimetaphyseal dysplasia, Krakow type - #618162
Mendeliome v0.9642 SIK3 Zornitza Stark Classified gene: SIK3 as Amber List (moderate evidence)
Mendeliome v0.9642 SIK3 Zornitza Stark Gene: sik3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.135 SIK3 Zornitza Stark Marked gene: SIK3 as ready
Skeletal dysplasia v0.135 SIK3 Zornitza Stark Gene: sik3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.135 SIK3 Zornitza Stark Phenotypes for gene: SIK3 were changed from ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162 to Spondyloepimetaphyseal dysplasia, Krakow type - #618162
Skeletal dysplasia v0.134 SIK3 Zornitza Stark Classified gene: SIK3 as Amber List (moderate evidence)
Skeletal dysplasia v0.134 SIK3 Zornitza Stark Gene: sik3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.255 LIPA Zornitza Stark Marked gene: LIPA as ready
Fetal anomalies v0.255 LIPA Zornitza Stark Gene: lipa has been classified as Green List (High Evidence).
Fetal anomalies v0.255 LIPA Zornitza Stark Publications for gene: LIPA were set to 12666227
Fetal anomalies v0.254 LIPA Zornitza Stark reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolman disease, MIM# 278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.254 DCHS1 Zornitza Stark Marked gene: DCHS1 as ready
Fetal anomalies v0.254 DCHS1 Zornitza Stark Gene: dchs1 has been classified as Green List (High Evidence).
Fetal anomalies v0.254 DCHS1 Zornitza Stark Phenotypes for gene: DCHS1 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to Van Maldergem syndrome 1, MIM# 601390
Fetal anomalies v0.253 DCHS1 Zornitza Stark Publications for gene: DCHS1 were set to
Fetal anomalies v0.252 HSF4 Zornitza Stark Marked gene: HSF4 as ready
Fetal anomalies v0.252 HSF4 Zornitza Stark Gene: hsf4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.252 HSF4 Zornitza Stark Phenotypes for gene: HSF4 were changed from CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE to Cataract 5, multiple types MIM#116800
Fetal anomalies v0.251 HSF4 Zornitza Stark Mode of inheritance for gene: HSF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.250 HSF4 Zornitza Stark Classified gene: HSF4 as Amber List (moderate evidence)
Fetal anomalies v0.250 HSF4 Zornitza Stark Gene: hsf4 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.223 HSD17B3 Zornitza Stark Marked gene: HSD17B3 as ready
Differences of Sex Development v0.223 HSD17B3 Zornitza Stark Gene: hsd17b3 has been classified as Green List (High Evidence).
Differences of Sex Development v0.223 HSD17B3 Zornitza Stark Phenotypes for gene: HSD17B3 were changed from to Pseudohermaphroditism, male, with gynecomastia MIM#264300
Differences of Sex Development v0.222 HSD17B3 Zornitza Stark Publications for gene: HSD17B3 were set to
Differences of Sex Development v0.221 HSD17B3 Zornitza Stark Mode of inheritance for gene: HSD17B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.220 HSD17B3 Zornitza Stark reviewed gene: HSD17B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8550739, 11158067; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9641 HSD17B3 Zornitza Stark Marked gene: HSD17B3 as ready
Mendeliome v0.9641 HSD17B3 Zornitza Stark Gene: hsd17b3 has been classified as Green List (High Evidence).
Mendeliome v0.9641 HSD17B3 Zornitza Stark Phenotypes for gene: HSD17B3 were changed from to Pseudohermaphroditism, male, with gynecomastia MIM#264300
Mendeliome v0.9640 HSD17B3 Zornitza Stark Publications for gene: HSD17B3 were set to
Mendeliome v0.9639 HSD17B3 Zornitza Stark Mode of inheritance for gene: HSD17B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9638 HSD17B3 Zornitza Stark reviewed gene: HSD17B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8550739, 11158067; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.249 HSD17B3 Zornitza Stark Marked gene: HSD17B3 as ready
Fetal anomalies v0.249 HSD17B3 Zornitza Stark Gene: hsd17b3 has been classified as Green List (High Evidence).
Fetal anomalies v0.249 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Fetal anomalies v0.249 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Fetal anomalies v0.249 DKC1 Belinda Chong reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked MIM#305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.249 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Fetal anomalies v0.249 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Mendeliome v0.9638 HR Ain Roesley reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alopecia universalis MIM#203655, Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.249 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION; LIG4 SYNDROME to LIG4 syndrome, MIM#606593
Ectodermal Dysplasia v0.57 HR Ain Roesley reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alopecia universalis MIM#203655, Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.248 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Hair disorders v0.48 HR Ain Roesley reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alopecia universalis MIM#203655, Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.247 HR Zornitza Stark Marked gene: HR as ready
Fetal anomalies v0.247 HR Zornitza Stark Gene: hr has been classified as Red List (Low Evidence).
Fetal anomalies v0.247 HR Zornitza Stark Phenotypes for gene: HR were changed from ATRICHIA WITH PAPULAR LESIONS; ALOPECIA UNIVERSALIS to Atrichia with papular lesions MIM#209500
Fetal anomalies v0.246 HR Zornitza Stark Classified gene: HR as Red List (low evidence)
Fetal anomalies v0.246 HR Zornitza Stark Gene: hr has been classified as Red List (Low Evidence).
Mendeliome v0.9638 HPSE2 Ain Roesley edited their review of gene: HPSE2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9638 HPSE2 Ain Roesley reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.245 HPSE2 Zornitza Stark Marked gene: HPSE2 as ready
Fetal anomalies v0.245 HPSE2 Zornitza Stark Gene: hpse2 has been classified as Green List (High Evidence).
Fetal anomalies v0.245 HPSE2 Zornitza Stark Phenotypes for gene: HPSE2 were changed from UROFACIAL SYNDROME to Urofacial syndrome 1 MIM#236730
Fetal anomalies v0.244 HPSE2 Zornitza Stark Publications for gene: HPSE2 were set to
Fetal anomalies v0.243 LIFR Zornitza Stark Marked gene: LIFR as ready
Fetal anomalies v0.243 LIFR Zornitza Stark Gene: lifr has been classified as Green List (High Evidence).
Fetal anomalies v0.243 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from Schwartz-Jampel type 2 syndrome; Stuve-Wiedemann syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; CAKUT
Fetal anomalies v0.242 LIFR Zornitza Stark Publications for gene: LIFR were set to
Fetal anomalies v0.241 LIFR Zornitza Stark Mode of inheritance for gene: LIFR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9638 HNRNPK Ain Roesley reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.240 LIFR Zornitza Stark reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.240 HOXD13 Zornitza Stark Marked gene: HOXD13 as ready
Fetal anomalies v0.240 HOXD13 Zornitza Stark Gene: hoxd13 has been classified as Green List (High Evidence).
Fetal anomalies v0.240 HOXD13 Zornitza Stark Phenotypes for gene: HOXD13 were changed from SYNDACTYLY TYPE 5; BRACHYDACTYLY-SYNDACTYLY SYNDROME; SYNPOLYDACTYLY 1; VACTERL ASSOCIATION; BRACHYDACTYLY TYPE D; BRACHYDACTYLY TYPE E to Brachydactyly, type D MIM#113200; Brachydactyly, type E MIM#113300; Syndactyly, type V MIM#186300; Synpolydactyly 1 MIM#186000
Fetal anomalies v0.239 HOXD13 Zornitza Stark Mode of inheritance for gene: HOXD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.97 HOXA1 Ain Roesley gene: HOXA1 was added
gene: HOXA1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOXA1 were set to 16155570; 18412118; 32864817
Phenotypes for gene: HOXA1 were set to thabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536
Penetrance for gene: HOXA1 were set to Complete
Review for gene: HOXA1 was set to GREEN
gene: HOXA1 was marked as current diagnostic
Added comment: At least 10 families reported.

175-176insG is known as the Saudi Arabian variant, while 76C>T is known as the native american variant.

Features include:
Conotruncal heart defects, Abnormalities of the internal carotid artery and other cerebral arteries, Abnormal skull base

Biallelic variants in this gene cause a syndrome affecting hindbrain development, with BSAS and ABDS allelic disorders.
Sources: Literature
Fetal anomalies v0.238 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Fetal anomalies v0.238 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Fetal anomalies v0.238 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from BOSLEY-SALIH-ALORAINY SYNDROME; ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME to Athabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536
Fetal anomalies v0.237 HOXA1 Zornitza Stark Publications for gene: HOXA1 were set to
Fetal anomalies v0.236 HOXA1 Zornitza Stark Tag founder tag was added to gene: HOXA1.
Fetal anomalies v0.236 HOXA1 Zornitza Stark reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v1.0 HNRNPK Ain Roesley gene: HNRNPK was added
gene: HNRNPK was added to Periventricular Grey Matter Heterotopia. Sources: Literature
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNRNPK were set to Au-Kline syndrome MIM#616580
Penetrance for gene: HNRNPK were set to Complete
Review for gene: HNRNPK was set to GREEN
gene: HNRNPK was marked as current diagnostic
Added comment: Caused by de novo variants.

Review of >20 individuals in GeneReviews:
- Brain anomalies have been identified in several individuals. The most common abnormalities were heterotopia and thinning of the corpus callosum.
- Congenital heart disease is present in approximately 75% of individuals with AKS
- Hydronephrosis is present in up to 75% of individuals
- Craniosynostosis is present in approximately 1/3 of individuals with AKS.
- More than half of individuals with AKS have scoliosis and congenital hip dysplasia
- Palate abnormalities, which include cleft palate, high-arched or narrow palate, and bifid uvula, are common.
Sources: Literature
Congenital Heart Defect v0.138 HNRNPK Ain Roesley gene: HNRNPK was added
gene: HNRNPK was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNRNPK were set to Au-Kline syndrome MIM#616580
Penetrance for gene: HNRNPK were set to Complete
Review for gene: HNRNPK was set to GREEN
gene: HNRNPK was marked as current diagnostic
Added comment: Caused by de novo variants.

Review of >20 individuals in GeneReviews:
- Brain anomalies have been identified in several individuals. The most common abnormalities were heterotopia and thinning of the corpus callosum.
- Congenital heart disease is present in approximately 75% of individuals with AKS
- Hydronephrosis is present in up to 75% of individuals
- Craniosynostosis is present in approximately 1/3 of individuals with AKS.
- More than half of individuals with AKS have scoliosis and congenital hip dysplasia
- Palate abnormalities, which include cleft palate, high-arched or narrow palate, and bifid uvula, are common.
Sources: Literature
Fetal anomalies v0.236 LHX4 Zornitza Stark Marked gene: LHX4 as ready
Fetal anomalies v0.236 LHX4 Zornitza Stark Gene: lhx4 has been classified as Green List (High Evidence).
Fetal anomalies v0.236 LHX4 Zornitza Stark Phenotypes for gene: LHX4 were changed from LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY to Pituitary hormone deficiency, combined, 4, MIM#262700
Fetal anomalies v0.235 LHX4 Zornitza Stark Publications for gene: LHX4 were set to
Clefting disorders v0.144 HNRNPK Ain Roesley gene: HNRNPK was added
gene: HNRNPK was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNRNPK were set to Au-Kline syndrome MIM#616580
Penetrance for gene: HNRNPK were set to Complete
Review for gene: HNRNPK was set to GREEN
gene: HNRNPK was marked as current diagnostic
Added comment: Caused by de novo variants.

Review of >20 individuals in GeneReviews:
- Brain anomalies have been identified in several individuals. The most common abnormalities were heterotopia and thinning of the corpus callosum.
- Congenital heart disease is present in approximately 75% of individuals with AKS
- Hydronephrosis is present in up to 75% of individuals
- Craniosynostosis is present in approximately 1/3 of individuals with AKS.
- More than half of individuals with AKS have scoliosis and congenital hip dysplasia
- Palate abnormalities, which include cleft palate, high-arched or narrow palate, and bifid uvula, are common.
Sources: Literature
Fetal anomalies v0.234 LHX4 Zornitza Stark Mode of inheritance for gene: LHX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.233 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Fetal anomalies v0.233 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Fetal anomalies v0.233 HNRNPK Zornitza Stark Phenotypes for gene: HNRNPK were changed from Au-Kline syndrome, 616580 to Au-Kline syndrome, MIM#616580
Fetal anomalies v0.232 HNRNPK Zornitza Stark Mode of inheritance for gene: HNRNPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.231 HNF4A Zornitza Stark Marked gene: HNF4A as ready
Fetal anomalies v0.231 HNF4A Zornitza Stark Gene: hnf4a has been classified as Green List (High Evidence).
Fetal anomalies v0.231 HNF4A Zornitza Stark Phenotypes for gene: HNF4A were changed from HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1; ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026
Fetal anomalies v0.230 HNF4A Zornitza Stark Mode of inheritance for gene: HNF4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.229 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Fetal anomalies v0.229 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Fetal anomalies v0.229 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from RENAL CYSTS AND DIABETES SYNDROME to Renal cysts and diabetes syndrome, MIM# 137920
Fetal anomalies v0.228 HNF1B Zornitza Stark Mode of inheritance for gene: HNF1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.227 HNF1B Zornitza Stark Tag SV/CNV tag was added to gene: HNF1B.
Fetal anomalies v0.227 LAMC3 Zornitza Stark Marked gene: LAMC3 as ready
Fetal anomalies v0.227 LAMC3 Zornitza Stark Gene: lamc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.227 LAMC3 Zornitza Stark Phenotypes for gene: LAMC3 were changed from OCCIPITAL CORTICAL MALFORMATIONS to Cortical malformations, occipital, MIM#614115
Fetal anomalies v0.226 LAMC3 Zornitza Stark Publications for gene: LAMC3 were set to
Fetal anomalies v0.225 LAMC3 Zornitza Stark reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9638 HES7 Ain Roesley reviewed gene: HES7: Rating: ; Mode of pathogenicity: None; Publications: 29459493, 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#613686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4259 MYH10 Zornitza Stark Marked gene: MYH10 as ready
Intellectual disability syndromic and non-syndromic v0.4259 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Fetal anomalies v0.225 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from HIBCH DEFICIENCY to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Fetal anomalies v0.224 HIBCH Zornitza Stark Publications for gene: HIBCH were set to
Fetal anomalies v0.223 HIBCH Zornitza Stark reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.223 HES7 Zornitza Stark Marked gene: HES7 as ready
Fetal anomalies v0.223 HES7 Zornitza Stark Gene: hes7 has been classified as Green List (High Evidence).
Fetal anomalies v0.223 HES7 Zornitza Stark Publications for gene: HES7 were set to
Intellectual disability syndromic and non-syndromic v0.4259 MYH10 Zornitza Stark Classified gene: MYH10 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4259 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Mendeliome v0.9638 MYH10 Zornitza Stark Marked gene: MYH10 as ready
Mendeliome v0.9638 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Mendeliome v0.9638 MYH10 Zornitza Stark Classified gene: MYH10 as Green List (high evidence)
Mendeliome v0.9638 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Microcephaly v1.68 MYH10 Zornitza Stark Marked gene: MYH10 as ready
Microcephaly v1.68 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Microcephaly v1.68 MYH10 Zornitza Stark Classified gene: MYH10 as Green List (high evidence)
Microcephaly v1.68 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Fetal anomalies v0.222 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Fetal anomalies v0.222 HBA2 Zornitza Stark Gene: hba2 has been classified as Green List (High Evidence).
Fetal anomalies v0.222 HBA2 Zornitza Stark Phenotypes for gene: HBA2 were changed from Thalassemia, alpha-, 604131; Fetal hydrops to Thalassaemia, alpha-, 604131; Fetal hydrops
Fetal anomalies v0.221 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Fetal anomalies v0.221 HBA1 Zornitza Stark Gene: hba1 has been classified as Green List (High Evidence).
Fetal anomalies v0.221 HBA1 Zornitza Stark Phenotypes for gene: HBA1 were changed from Thalassemia, alpha-, 604131; Fetal hydrops to Thalassaemia, alpha-, 604131; Fetal hydrops
Fetal anomalies v0.220 HADHA Zornitza Stark Marked gene: HADHA as ready
Fetal anomalies v0.220 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Fetal anomalies v0.220 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY to LCHAD deficiency, MIM# 609016
Fetal anomalies v0.219 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.219 HAAO Zornitza Stark Marked gene: HAAO as ready
Fetal anomalies v0.219 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Fetal anomalies v0.219 HAAO Zornitza Stark Publications for gene: HAAO were set to 28792876
Fetal anomalies v0.218 L2HGDH Zornitza Stark Marked gene: L2HGDH as ready
Fetal anomalies v0.218 L2HGDH Zornitza Stark Gene: l2hgdh has been classified as Red List (Low Evidence).
Fetal anomalies v0.218 L2HGDH Zornitza Stark Phenotypes for gene: L2HGDH were changed from L-2-HYDROXYGLUTARIC ACIDURIA to L-2-hydroxyglutaric aciduria, MIM#236792
Fetal anomalies v0.217 L2HGDH Zornitza Stark Publications for gene: L2HGDH were set to
Fetal anomalies v0.216 L2HGDH Zornitza Stark Classified gene: L2HGDH as Red List (low evidence)
Fetal anomalies v0.216 L2HGDH Zornitza Stark Gene: l2hgdh has been classified as Red List (Low Evidence).
Fetal anomalies v0.215 DIS3L2 Belinda Chong reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22306653, 28328139, 29950491; Phenotypes: Perlman syndrome MIM# 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.215 DHODH Belinda Chong reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9637 C9orf3 Zornitza Stark Marked gene: C9orf3 as ready
Mendeliome v0.9637 C9orf3 Zornitza Stark Gene: c9orf3 has been classified as Green List (High Evidence).
Mendeliome v0.9637 C9orf3 Zornitza Stark Classified gene: C9orf3 as Green List (high evidence)
Mendeliome v0.9637 C9orf3 Zornitza Stark Gene: c9orf3 has been classified as Green List (High Evidence).
Mendeliome v0.9636 C9orf3 Zornitza Stark gene: C9orf3 was added
gene: C9orf3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C9orf3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C9orf3 were set to 34596301
Phenotypes for gene: C9orf3 were set to Dystonia 31, MIM# 619565
Review for gene: C9orf3 was set to GREEN
Added comment: Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family.

5 individuals from 4 unrelated families reported.

HGNC approved name is AOPEP.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.91 TOP2B Zornitza Stark Classified gene: TOP2B as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.91 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.90 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.90 TOP2B Zornitza Stark Gene: top2b has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.90 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31409799
Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296
Review for gene: TOP2B was set to GREEN
Added comment: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Literature
Fetal anomalies v0.215 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Fetal anomalies v0.215 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Fetal anomalies v0.215 TOP2B Zornitza Stark Classified gene: TOP2B as Green List (high evidence)
Fetal anomalies v0.215 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Fetal anomalies v0.214 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31409799
Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296
Review for gene: TOP2B was set to GREEN
Added comment: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Expert Review
Mendeliome v0.9635 TOP2B Zornitza Stark Phenotypes for gene: TOP2B were changed from Autosomal dominant deafness; Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies; Intellectual disability to Autosomal dominant deafness; B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296; Intellectual disability
Mendeliome v0.9634 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed phenotypes: Autosomal dominant deafness, B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296, Intellectual disability
Predominantly Antibody Deficiency v0.93 TOP2B Zornitza Stark Phenotypes for gene: TOP2B were changed from Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296; Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies
Predominantly Antibody Deficiency v0.92 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296, Antibody deficiency, Recurrent infections, Facial dysmorphism, Limb anomalies
Predominantly Antibody Deficiency v0.92 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 609296, Antibody deficiency, Recurrent infections, Facial dysmorphism, Limb anomalies
Fetal anomalies v0.213 DDX3X Belinda Chong reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 30936465, 31274575, 30817323; Phenotypes: Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958; 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
Fetal anomalies v0.213 SCN2A Seb Lunke Marked gene: SCN2A as ready
Fetal anomalies v0.213 SCN2A Seb Lunke Gene: scn2a has been classified as Green List (High Evidence).
Fetal anomalies v0.213 SCN2A Seb Lunke Phenotypes for gene: SCN2A were changed from NONSPECIFIC SEVERE ID; INFANTILE EPILEPTIC ENCEPHALOPATHY; BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES to Developmental and epileptic encephalopathy 11, MIM#182390
Fetal anomalies v0.212 SCN2A Seb Lunke Publications for gene: SCN2A were set to 30712878
Fetal anomalies v0.211 SCN2A Seb Lunke reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28254201; Phenotypes: Developmental and epileptic encephalopathy 11, MIM#182390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.211 ATRX Zornitza Stark Marked gene: ATRX as ready
Fetal anomalies v0.211 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Fetal anomalies v0.211 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE; MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 to Alpha-thalassemia/mental retardation syndrome, MIM# 301040
Fetal anomalies v0.210 ATRX Zornitza Stark Publications for gene: ATRX were set to
Fetal anomalies v0.209 ATRX Zornitza Stark changed review comment from: The hallmark of this condition is hypotonia. Contractures have been described but are not a key/prominent feature.; to: Multiple congenital anomalies reported in association with this condition.
Fetal anomalies v0.209 ATRX Zornitza Stark edited their review of gene: ATRX: Changed rating: GREEN
Fetal anomalies v0.209 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Fetal anomalies v0.209 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Fetal anomalies v0.209 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; MENKES DISEASE; OCCIPITAL HORN SYNDROME to Menkes disease, MIM# 309400
Fetal anomalies v0.208 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease, MIM# 309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.208 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Fetal anomalies v0.208 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.208 ATP6V0A2 Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome 219200 to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250
Fetal anomalies v0.207 ATP6V0A2 Zornitza Stark Publications for gene: ATP6V0A2 were set to
Fetal anomalies v0.206 ATP6V0A2 Zornitza Stark changed review comment from: Defective glycosylation is part of the phenotype. More than 20 unrelated families reported.; to: More than 20 unrelated families reported. IUGR and skeletal anomalies are a feature.
Fetal anomalies v0.206 ATIC Zornitza Stark Marked gene: ATIC as ready
Fetal anomalies v0.206 ATIC Zornitza Stark Gene: atic has been classified as Green List (High Evidence).
Fetal anomalies v0.206 ATIC Zornitza Stark Phenotypes for gene: ATIC were changed from AICA-RIBOSURIA to AICA-ribosiduria due to ATIC deficiency, MIM# 608688
Fetal anomalies v0.205 ATIC Zornitza Stark Publications for gene: ATIC were set to 15114530; 32557644
Fetal anomalies v0.205 ATIC Zornitza Stark Publications for gene: ATIC were set to
Fetal anomalies v0.204 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Fetal anomalies v0.204 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Fetal anomalies v0.204 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Harel-Yoon syndrome, OMIM:617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Fetal anomalies v0.203 SC5D Seb Lunke Marked gene: SC5D as ready
Fetal anomalies v0.203 SC5D Seb Lunke Gene: sc5d has been classified as Green List (High Evidence).
Fetal anomalies v0.203 SC5D Seb Lunke Phenotypes for gene: SC5D were changed from LATHOSTEROLOSIS to Lathosterolosis, MIM#607330
Fetal anomalies v0.202 ATAD3A Zornitza Stark Mode of inheritance for gene: ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.201 SC5D Seb Lunke Publications for gene: SC5D were set to
Fetal anomalies v0.200 SC5D Seb Lunke reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189593, 17853487; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4258 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Intellectual disability syndromic and non-syndromic v0.4258 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4258 ASXL1 Zornitza Stark Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome , MIM#605039
Intellectual disability syndromic and non-syndromic v0.4257 ASXL1 Zornitza Stark Publications for gene: ASXL1 were set to
Intellectual disability syndromic and non-syndromic v0.4256 ASXL1 Zornitza Stark Mode of inheritance for gene: ASXL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4255 ASXL1 Zornitza Stark reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29446906, 21706002; Phenotypes: Bohring-Opitz syndrome , MIM#605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9634 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Mendeliome v0.9634 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Mendeliome v0.9634 ASXL1 Zornitza Stark Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome , MIM#605039
Mendeliome v0.9633 ASXL1 Zornitza Stark Publications for gene: ASXL1 were set to
Mendeliome v0.9632 ASXL1 Zornitza Stark Mode of inheritance for gene: ASXL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9631 ASXL1 Zornitza Stark changed review comment from: Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound ID, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints -- many of these features would be identifiable antenatally.; to: Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound ID, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.

Multiple individuals reported.
Mendeliome v0.9631 ASXL1 Zornitza Stark reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29446906, 21706002; Phenotypes: Bohring-Opitz syndrome , MIM#605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.200 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Fetal anomalies v0.200 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.200 ASXL1 Zornitza Stark Phenotypes for gene: ASXL1 were changed from BOHRING-OPITZ SYNDROME to Bohring-Opitz syndrome , MIM#605039
Fetal anomalies v0.199 ASXL1 Zornitza Stark Publications for gene: ASXL1 were set to
Fetal anomalies v0.198 ASXL1 Zornitza Stark Mode of inheritance for gene: ASXL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.197 ASXL1 Zornitza Stark edited their review of gene: ASXL1: Changed publications: 29446906, 21706002
Fetal anomalies v0.197 ASXL1 Zornitza Stark changed review comment from: Colobomas reported.; to: Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound ID, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints -- many of these features would be identifiable antenatally.
Fetal anomalies v0.197 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Fetal anomalies v0.197 ASS1 Zornitza Stark Gene: ass1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.197 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from CITRULLINEMIA TYPE I to Citrullinemia, MIM# 215700
Fetal anomalies v0.196 ASS1 Zornitza Stark Classified gene: ASS1 as Red List (low evidence)
Fetal anomalies v0.196 ASS1 Zornitza Stark Gene: ass1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.195 ASS1 Zornitza Stark reviewed gene: ASS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, MIM# 215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.195 ASPM Zornitza Stark Marked gene: ASPM as ready
Fetal anomalies v0.195 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Fetal anomalies v0.195 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 5, primary, autosomal recessive, MIM#608716
Fetal anomalies v0.194 ASPM Zornitza Stark Publications for gene: ASPM were set to
Fetal anomalies v0.193 ASPA Zornitza Stark Marked gene: ASPA as ready
Fetal anomalies v0.193 ASPA Zornitza Stark Gene: aspa has been classified as Green List (High Evidence).
Fetal anomalies v0.193 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from CANAVAN DISEASE to Canavan disease, MIM# 271900
Fetal anomalies v0.192 ASPA Zornitza Stark reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease, MIM# 271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9631 ASNS Zornitza Stark Marked gene: ASNS as ready
Mendeliome v0.9631 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Mendeliome v0.9631 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from to Asparagine synthetase deficiency, MIM#615574
Mendeliome v0.9630 ASNS Zornitza Stark Publications for gene: ASNS were set to
Mendeliome v0.9629 ASNS Zornitza Stark Mode of inheritance for gene: ASNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9628 ASNS Zornitza Stark edited their review of gene: ASNS: Changed publications: 24139043
Fetal anomalies v0.192 ASNS Zornitza Stark Publications for gene: ASNS were set to
Fetal anomalies v0.191 ASNS Zornitza Stark edited their review of gene: ASNS: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.191 ASNS Zornitza Stark edited their review of gene: ASNS: Changed publications: 24139043
Fetal anomalies v0.191 ASNS Zornitza Stark Marked gene: ASNS as ready
Fetal anomalies v0.191 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Fetal anomalies v0.191 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency 615574 to Asparagine synthetase deficiency, MIM#615574
Fetal anomalies v0.190 ASNS Zornitza Stark changed review comment from: Progressive neurometabolic disorder, with high mortality in infancy but severe intellectual disability in those surviving longer.; to: Progressive neurometabolic disorder, with high mortality in infancy but severe intellectual disability in those surviving longer.

Microcephaly is present antenatally.
Fetal anomalies v0.190 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Fetal anomalies v0.190 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.190 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from spinal muscular atrophy; hypotonia; contractures; fetal akinesia; arthrogryposis to Spinal muscular atrophy with congenital bone fractures 2 MIM#616867
Fetal anomalies v0.189 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Fetal anomalies v0.189 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Fetal anomalies v0.189 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY; FARBER LIPOGRANULOMATOSIS to Farber lipogranulomatosis, MIM# 228000
Fetal anomalies v0.188 ASAH1 Zornitza Stark Publications for gene: ASAH1 were set to
Fetal anomalies v0.187 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11241842; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.187 ARX Zornitza Stark Marked gene: ARX as ready
Fetal anomalies v0.187 ARX Zornitza Stark Gene: arx has been classified as Green List (High Evidence).
Fetal anomalies v0.187 ARX Zornitza Stark Phenotypes for gene: ARX were changed from AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1; PARTINGTON SYNDROME; MENTAL RETARDATION X-LINKED ARX-RELATED; LISSENCEPHALY X-LINKED TYPE 2 to Hydranencephaly with abnormal genitalia, MIM# 300215; Lissencephaly, X-linked 2, MIM# 300215
Fetal anomalies v0.186 ARX Zornitza Stark Publications for gene: ARX were set to
Fetal anomalies v0.185 ARX Zornitza Stark changed review comment from: X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome; to: X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype. LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome.

Variants in this gene can also cause ID/EE in the absence of congenital anomalies.
Fetal anomalies v0.185 ARX Zornitza Stark Deleted their comment
Fetal anomalies v0.185 ARX Zornitza Stark edited their review of gene: ARX: Added comment: X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome; Changed rating: GREEN; Changed publications: 14722918, 12379852, 14722918; Changed phenotypes: Hydranencephaly with abnormal genitalia, MIM# 300215, Lissencephaly, X-linked 2, MIM# 300215
Fetal anomalies v0.185 SAMHD1 Seb Lunke Marked gene: SAMHD1 as ready
Fetal anomalies v0.185 SAMHD1 Seb Lunke Gene: samhd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.185 SAMHD1 Seb Lunke Phenotypes for gene: SAMHD1 were changed from AICARDI-GOUTIERES SYNDROME to Aicardi-Goutieres syndrome 5, MIM#612952
Fetal anomalies v0.184 SAMHD1 Seb Lunke Publications for gene: SAMHD1 were set to
Fetal anomalies v0.183 SAMHD1 Seb Lunke reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21102625; Phenotypes: Aicardi-Goutieres syndrome 5, MIM#612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.183 ARSE Zornitza Stark Marked gene: ARSE as ready
Fetal anomalies v0.183 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Fetal anomalies v0.183 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from CHONDRODYSPLASIA PUNCTATA 1, X-LINKED to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Fetal anomalies v0.182 ARSE Zornitza Stark changed review comment from: Well established gene-disease association. Note HGNC approved name is ARSL.; to: Well established gene-disease association. Note HGNC approved name is ARSL. Multiple skeletal anomalies detectable prenatally.
Fetal anomalies v0.182 ARSB Zornitza Stark Marked gene: ARSB as ready
Fetal anomalies v0.182 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Fetal anomalies v0.182 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from MUCOPOLYSACCHARIDOSIS TYPE 6 to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661
Fetal anomalies v0.181 ARSB Zornitza Stark Publications for gene: ARSB were set to
Fetal anomalies v0.180 ARSB Zornitza Stark changed review comment from: Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal. Well established gene-disease association.; to: Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal. Well established gene-disease association.

Perinatal presentation is uncommon but reported with oedema and skeletal changes.
Fetal anomalies v0.180 ARSB Zornitza Stark edited their review of gene: ARSB: Changed publications: 11668612, 1301949
Fetal anomalies v0.180 ARSA Zornitza Stark Marked gene: ARSA as ready
Fetal anomalies v0.180 ARSA Zornitza Stark Gene: arsa has been classified as Red List (Low Evidence).
Fetal anomalies v0.180 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from ARYLSULFATASE A DEFICIENCY to Metachromatic leukodystrophy, MIM# 250100
Fetal anomalies v0.179 SAMD9 Seb Lunke Source Genomics England PanelApp was removed from SAMD9.
Source Literature was added to SAMD9.
Phenotypes for gene: SAMD9 were changed from MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy to MIRAGE syndrome, MIM#617053
Fetal anomalies v0.178 ARSA Zornitza Stark Classified gene: ARSA as Red List (low evidence)
Fetal anomalies v0.178 ARSA Zornitza Stark Gene: arsa has been classified as Red List (Low Evidence).
Fetal anomalies v0.177 ARSA Zornitza Stark reviewed gene: ARSA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.177 SAMD9 Seb Lunke Marked gene: SAMD9 as ready
Fetal anomalies v0.177 SAMD9 Seb Lunke Gene: samd9 has been classified as Green List (High Evidence).
Fetal anomalies v0.177 SAMD9 Seb Lunke reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27182967; Phenotypes: MIRAGE syndrome, MIM#617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.177 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Fetal anomalies v0.177 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Fetal anomalies v0.177 ARMC9 Zornitza Stark Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30 to Joubert syndrome 30, MIM# 617622
Fetal anomalies v0.176 ARMC9 Zornitza Stark Publications for gene: ARMC9 were set to
Fetal anomalies v0.175 ARMC4 Zornitza Stark changed review comment from: PMID: 23849778 - 10 unrelated families with CDP, patients were homozygous for mostly PTCs but also missense.; to: PMID: 23849778 - 10 unrelated families with CDP, patients were homozygous for mostly PTCs but also missense. Laterality defects in approx 50%.
Fetal anomalies v0.175 ARMC4 Zornitza Stark Marked gene: ARMC4 as ready
Fetal anomalies v0.175 ARMC4 Zornitza Stark Gene: armc4 has been classified as Green List (High Evidence).
Fetal anomalies v0.175 ARMC4 Zornitza Stark Phenotypes for gene: ARMC4 were changed from CILIARY DYSKINESIA, PRIMARY, 23 to Ciliary dyskinesia, primary, 23, MIM# 615451
Fetal anomalies v0.174 ARMC4 Zornitza Stark Publications for gene: ARMC4 were set to
Fetal anomalies v0.173 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Fetal anomalies v0.173 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Fetal anomalies v0.173 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from RETINITIS PIGMENTOSA TYPE 55; BARDET-BIEDL SYNDROME TYPE 3 to Bardet-Biedl syndrome 3, MIM# 600151
Fetal anomalies v0.172 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Fetal anomalies v0.171 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Fetal anomalies v0.171 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Fetal anomalies v0.171 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Fetal anomalies v0.171 ARID1B Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence).
Fetal anomalies v0.171 ARID1B Zornitza Stark Phenotypes for gene: ARID1B were changed from COFFIN SIRIS SYNDROME; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 to Coffin-Siris syndrome 1, MIM 135900
Fetal anomalies v0.170 ARID1B Zornitza Stark Publications for gene: ARID1B were set to
Fetal anomalies v0.169 ARID1B Zornitza Stark Mode of inheritance for gene: ARID1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.168 ARID1B Zornitza Stark reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1, MIM 135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.168 ARID1A Zornitza Stark Marked gene: ARID1A as ready
Fetal anomalies v0.168 ARID1A Zornitza Stark Gene: arid1a has been classified as Green List (High Evidence).
Fetal anomalies v0.168 ARID1A Zornitza Stark Phenotypes for gene: ARID1A were changed from COFFIN-SIRIS SYNDROME to Coffin-Siris syndrome 2 (MIM#614607)
Fetal anomalies v0.167 ARID1A Zornitza Stark Publications for gene: ARID1A were set to
Fetal anomalies v0.166 ARID1A Zornitza Stark Mode of inheritance for gene: ARID1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.165 ARID1A Zornitza Stark reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23929686, 22426308, 25168959; Phenotypes: Coffin-Siris syndrome 2 (MIM#614607); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.165 ARHGAP31 Zornitza Stark Marked gene: ARHGAP31 as ready
Fetal anomalies v0.165 ARHGAP31 Zornitza Stark Gene: arhgap31 has been classified as Green List (High Evidence).
Fetal anomalies v0.165 ARHGAP31 Zornitza Stark Phenotypes for gene: ARHGAP31 were changed from ADAMS-OLIVER SYNDROME 1 to Adams-Oliver syndrome 1, MIM#100300
Fetal anomalies v0.164 ARHGAP31 Zornitza Stark Mode of inheritance for gene: ARHGAP31 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.163 ARHGAP31 Zornitza Stark changed review comment from: Classically cutis aplasia and transverse limb defects with normal cognition, intellectual disability rare.; to: Classically cutis aplasia and transverse limb defects with normal cognition.
Fetal anomalies v0.163 ARHGAP31 Zornitza Stark edited their review of gene: ARHGAP31: Changed rating: GREEN
Fetal anomalies v0.163 ARCN1 Zornitza Stark Marked gene: ARCN1 as ready
Fetal anomalies v0.163 ARCN1 Zornitza Stark Gene: arcn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.163 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655
Fetal anomalies v0.162 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.161 AR Zornitza Stark Marked gene: AR as ready
Fetal anomalies v0.161 AR Zornitza Stark Gene: ar has been classified as Green List (High Evidence).
Fetal anomalies v0.161 AR Zornitza Stark Phenotypes for gene: AR were changed from SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME to Androgen insensitivity, MIM# 300068
Fetal anomalies v0.160 AR Zornitza Stark changed review comment from: Progressive neurological condition, ID is not part of the phenotype.; to: DSD.
Fetal anomalies v0.160 AR Zornitza Stark edited their review of gene: AR: Changed rating: GREEN; Changed phenotypes: Androgen insensitivity, MIM# 300068
Fetal anomalies v0.160 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
Fetal anomalies v0.160 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence).
Fetal anomalies v0.160 AP4E1 Zornitza Stark Phenotypes for gene: AP4E1 were changed from Hereditary spastic paraplegia 51, MONDO:0013401; Spastic paraplegia 51, autosomal recessive, OMIM:613744 to Spastic paraplegia 51, autosomal recessive, MIM# 613744; MONDO:0013401
Fetal anomalies v0.159 AP4E1 Zornitza Stark Publications for gene: AP4E1 were set to
Fetal anomalies v0.158 ATAD1 Krithika Murali gene: ATAD1 was added
gene: ATAD1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 28180185; 29390050; 29659736
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4 - #618011
Review for gene: ATAD1 was set to GREEN
Added comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures. Severe progressive neurological disorder, severe/profound intellectual disability is a feature.
Sources: Expert list, Literature
Fetal anomalies v0.158 HSPD1 Ain Roesley reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.158 ADCY6 Krithika Murali gene: ADCY6 was added
gene: ADCY6 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 24319099, 26257172, 31846058; 33820833
Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8 - #616287
Review for gene: ADCY6 was set to GREEN
Added comment: PMID: 33820833 (2021) - Further 2 sibs reported with a homozygous c.3346C>T:p.Arg1116Cys variant in the ADCY6 gene. The family was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and IUGR were detected prenatally.

Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth.

Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency.

Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies.
Sources: Expert list, Literature
Mendeliome v0.9628 SIK3 Krithika Murali gene: SIK3 was added
gene: SIK3 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIK3 were set to 30232230; 22318228
Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162
Review for gene: SIK3 was set to AMBER
Added comment: Biallelic SIK3 variants reported in 2 siblings from a consanguineous family with an uncharacterised skeletal dysplasia. Radiographic features included widened/flared metaphyses with irregular ossifications, motheaten long bones, fragmentation of the proximal metacarpals, rounded vertebral bodies, and a distinctive transverse gap seen in the tibias.

In addition to the skeletal phenotype, the siblings manifested significant developmental delay with brain MRI abnormalities, a severe unclassified immunodeficiency, and normal parathyroid hormone concentration with mild hypercalcemia.

One sibling had a more severe phenotype, particularly immunodeficiency, and died of Epstein-Barr virus induced small muscle cancer at 10 years of age.

Mouse models support impaired chondrocyte development with skeletal dysplasia phenotye.
Sources: Expert list, Literature
Skeletal dysplasia v0.133 SIK3 Krithika Murali gene: SIK3 was added
gene: SIK3 was added to Skeletal dysplasia. Sources: Expert list,Literature
Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIK3 were set to 30232230; 22318228
Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162
Review for gene: SIK3 was set to AMBER
Added comment: Biallelic SIK3 variants reported in 2 siblings from a consanguineous family with an uncharacterised skeletal dysplasia. Radiographic features included widened/flared metaphyses with irregular ossifications, motheaten long bones, fragmentation of the proximal metacarpals, rounded vertebral bodies, and a distinctive transverse gap seen in the tibias.

In addition to the skeletal phenotype, the siblings manifested significant developmental delay with brain MRI abnormalities, a severe unclassified immunodeficiency, and normal parathyroid hormone concentration with mild hypercalcemia.

One sibling had a more severe phenotype, particularly immunodeficiency, and died of Epstein-Barr virus induced small muscle cancer at 10 years of age.

Mouse models support impaired chondrocyte development with skeletal dysplasia phenotype.
Sources: Expert list, Literature
Fetal anomalies v0.158 LIPA Daniel Flanagan reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28374935, 11487567; Phenotypes: Wolman disease, MIM#278000, Cholesteryl ester storage disease, MIM#278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.158 DCHS1 Belinda Chong reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1, MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.158 HSF4 Ain Roesley reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 5, multiple types MIM#116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.157 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Fetal anomalies v0.157 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence).
Fetal anomalies v0.157 AP1S2 Zornitza Stark Publications for gene: AP1S2 were set to
Fetal anomalies v0.156 AP1S2 Zornitza Stark changed review comment from: Contractures are mentioned in the OMIM summary for this disorder, but do not appear to be a common/prominent feature.; to: Dandy-Walker malformation, hydrocephalus, intracranial calcifications reported in some patients.
Fetal anomalies v0.156 AP1S2 Zornitza Stark edited their review of gene: AP1S2: Changed rating: GREEN; Changed phenotypes: Pettigrew syndrome, MIM# 304340
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.56 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Ectodermal Dysplasia. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.

Included due to overlap with hair and dental anomalies.
Sources: Expert Review
Hair disorders v0.48 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Hair disorders v0.48 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Hair disorders v0.48 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Hair disorders v0.48 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Hair disorders v0.47 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Hair disorders. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.
Sources: Expert Review
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Optic Atrophy v1.4 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.
Sources: Expert Review
Mendeliome v0.9628 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Mendeliome v0.9628 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Mendeliome v0.9628 ANTXR1 Zornitza Stark Phenotypes for gene: ANTXR1 were changed from to GAPO syndrome, MIM# 230740
Mendeliome v0.9627 ANTXR1 Zornitza Stark Publications for gene: ANTXR1 were set to
Growth failure v1.18 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Growth failure v1.18 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Growth failure v1.18 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Growth failure v1.18 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Growth failure v1.17 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.
Sources: Expert Review
Mendeliome v0.9626 ANTXR1 Zornitza Stark Mode of inheritance for gene: ANTXR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9625 ANTXR1 Zornitza Stark reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23602711, 25045128, 31425299, 30575274, 29436111, 28870703; Phenotypes: GAPO syndrome, MIM# 230740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.156 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Fetal anomalies v0.156 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.156 ANTXR1 Zornitza Stark Phenotypes for gene: ANTXR1 were changed from GAPO SYNDROME to GAPO syndrome, MIM# 230740
Fetal anomalies v0.155 ANTXR1 Zornitza Stark Publications for gene: ANTXR1 were set to
Fetal anomalies v0.154 ANTXR1 Zornitza Stark reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23602711, 25045128, 31425299, 30575274, 29436111, 28870703; Phenotypes: GAPO syndrome, MIM# 230740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.220 ANOS1 Zornitza Stark Marked gene: ANOS1 as ready
Differences of Sex Development v0.220 ANOS1 Zornitza Stark Gene: anos1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.220 ANOS1 Zornitza Stark Phenotypes for gene: ANOS1 were changed from to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Differences of Sex Development v0.219 ANOS1 Zornitza Stark Publications for gene: ANOS1 were set to
Differences of Sex Development v0.218 ANOS1 Zornitza Stark Mode of inheritance for gene: ANOS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences of Sex Development v0.217 ANOS1 Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9625 ANOS1 Zornitza Stark Marked gene: ANOS1 as ready
Mendeliome v0.9625 ANOS1 Zornitza Stark Gene: anos1 has been classified as Green List (High Evidence).
Mendeliome v0.9625 ANOS1 Zornitza Stark Phenotypes for gene: ANOS1 were changed from to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Mendeliome v0.9624 ANOS1 Zornitza Stark Publications for gene: ANOS1 were set to
Mendeliome v0.9623 ANOS1 Zornitza Stark Mode of inheritance for gene: ANOS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9622 ANOS1 Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.196 ANOS1 Zornitza Stark Publications for gene: ANOS1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.195 ANOS1 Zornitza Stark edited their review of gene: ANOS1: Changed publications: 1594017, 8504298, 8989261
Fetal anomalies v0.154 ANOS1 Zornitza Stark Marked gene: ANOS1 as ready
Fetal anomalies v0.154 ANOS1 Zornitza Stark Gene: anos1 has been classified as Green List (High Evidence).
Fetal anomalies v0.154 ANOS1 Zornitza Stark Phenotypes for gene: ANOS1 were changed from Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Fetal anomalies v0.153 ANOS1 Zornitza Stark Publications for gene: ANOS1 were set to
Fetal anomalies v0.152 ANOS1 Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: None
Fetal anomalies v0.152 HSD17B3 Ain Roesley reviewed gene: HSD17B3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.152 LIG4 Daniel Flanagan reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32534991, 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM#606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.152 HR Ain Roesley reviewed gene: HR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.152 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Fetal anomalies v0.152 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Fetal anomalies v0.152 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from KBG SYNDROME to KBG syndrome, MIM# 148050
Fetal anomalies v0.151 ANKRD11 Zornitza Stark Publications for gene: ANKRD11 were set to
Fetal anomalies v0.150 ANKRD11 Zornitza Stark Mode of inheritance for gene: ANKRD11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.149 ANKRD11 Zornitza Stark changed review comment from: Single individual reported.
Sources: Literature; to: Well established gene-disease association. Microcephaly and skeletal abnormalities are common, in addition to ID and dysmorphic features.
Sources: Literature
Fetal anomalies v0.149 ANKRD11 Zornitza Stark edited their review of gene: ANKRD11: Changed rating: GREEN
Fetal anomalies v0.149 ANKH Zornitza Stark Marked gene: ANKH as ready
Fetal anomalies v0.149 ANKH Zornitza Stark Gene: ankh has been classified as Green List (High Evidence).
Fetal anomalies v0.149 ANKH Zornitza Stark Phenotypes for gene: ANKH were changed from CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE; CHONDROCALCINOSIS 2 to Craniometaphyseal dysplasia, MIM#123000
Fetal anomalies v0.148 HPSE2 Ain Roesley reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.148 ANKH Zornitza Stark Publications for gene: ANKH were set to
Fetal anomalies v0.147 ANKH Zornitza Stark Mode of inheritance for gene: ANKH was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.146 ANKH Zornitza Stark edited their review of gene: ANKH: Changed publications: 11326272, 20358596
Fetal anomalies v0.146 ANKH Zornitza Stark changed review comment from: Intellectual disability is not part of the phenotype of this skeletal dysplasia.; to: Can present perinatally with skeletal abnormalities.
Fetal anomalies v0.146 ANKH Zornitza Stark edited their review of gene: ANKH: Changed rating: GREEN
Fetal anomalies v0.146 ANAPC1 Zornitza Stark Marked gene: ANAPC1 as ready
Fetal anomalies v0.146 ANAPC1 Zornitza Stark Gene: anapc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.146 ANAPC1 Zornitza Stark Phenotypes for gene: ANAPC1 were changed from Rothmund-Thomson Syndrome Type 1 to Rothmund-Thomson syndrome, type 1, MIM# 618625
Fetal anomalies v0.145 ANAPC1 Zornitza Stark edited their review of gene: ANAPC1: Changed phenotypes: Rothmund-Thomson syndrome, type 1, MIM# 618625
Fetal anomalies v0.145 ANAPC1 Zornitza Stark reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome, type 1 618625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.145 AMT Zornitza Stark Marked gene: AMT as ready
Fetal anomalies v0.145 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Fetal anomalies v0.145 AMT Zornitza Stark Phenotypes for gene: AMT were changed from GLYCINE ENCEPHALOPATHY to Glycine encephalopathy, MIM# 605899
Fetal anomalies v0.144 AMT Zornitza Stark Publications for gene: AMT were set to
Fetal anomalies v0.143 AMT Zornitza Stark reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 8188235, 11592811; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.143 LIFR Daniel Flanagan reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334964; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.143 HOXD13 Ain Roesley reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type D MIM#113200, Brachydactyly, type E MIM#113300, Syndactyly, type V MIM#186300, Synpolydactyly 1 MIM#186000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.143 HOXA1 Ain Roesley reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16155570, 18412118, 32864817; Phenotypes: Athabaskan brainstem dysgenesis syndrome MIM#601536, Bosley-Salih-Alorainy syndrome MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.143 LHX4 Daniel Flanagan reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11567216, 18445675, 27820671; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM#262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.143 HNRNPK Ain Roesley reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9622 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Mendeliome v0.9622 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence).
Mendeliome v0.9622 LTBP4 Zornitza Stark Phenotypes for gene: LTBP4 were changed from to Cutis laxa, autosomal recessive, type IC, MIM# 613177
Mendeliome v0.9621 LTBP4 Zornitza Stark Publications for gene: LTBP4 were set to
Mendeliome v0.9620 LTBP4 Zornitza Stark Mode of inheritance for gene: LTBP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9619 LTBP4 Zornitza Stark reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22829427, 19836010, 28684544; Phenotypes: Cutis laxa, autosomal recessive, type IC, MIM# 613177; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.143 HNF4A Ain Roesley reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.143 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Fetal anomalies v0.143 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Fetal anomalies v0.143 ITGA3 Zornitza Stark Phenotypes for gene: ITGA3 were changed from INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Fetal anomalies v0.142 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to
Fetal anomalies v0.141 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491, 23114595, 30466509; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.141 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Fetal anomalies v0.141 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Fetal anomalies v0.141 EFEMP2 Zornitza Stark Classified gene: EFEMP2 as Green List (high evidence)
Fetal anomalies v0.141 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Mendeliome v0.9619 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Mendeliome v0.9619 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Fetal anomalies v0.140 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP2 were set to 30140196; 23532871; 31548410; 19664000
Phenotypes for gene: EFEMP2 were set to Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437
Review for gene: EFEMP2 was set to GREEN
Added comment: Associated with pulmonary hypoplasia, hypoplastic diaphragm and diffuse lung disease, fractures, arthrogryposis. Over 20 unrelated families reported in the literature.
Sources: Expert Review
Mendeliome v0.9619 EFEMP2 Zornitza Stark Phenotypes for gene: EFEMP2 were changed from to Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437
Mendeliome v0.9618 EFEMP2 Zornitza Stark Publications for gene: EFEMP2 were set to
Mendeliome v0.9617 EFEMP2 Zornitza Stark Mode of inheritance for gene: EFEMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9616 EFEMP2 Zornitza Stark reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30140196, 23532871, 31548410, 19664000; Phenotypes: Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.139 HNF1B Ain Roesley reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v0.1377 LAMC3 Daniel Flanagan gene: LAMC3 was added
gene: LAMC3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMC3 were set to 33639934; 21572413; 34354730
Phenotypes for gene: LAMC3 were set to Cortical malformations, occipital, MIM#614115
Review for gene: LAMC3 was set to GREEN
Added comment: Biallelic LAMC3 variants cause occipital cortical malformation with 6 unrelated families reported. Childhood-onset seizures is the most common clinical manifestation, usually occurring around age 10.
Sources: Literature
Fetal anomalies v0.139 LAMC3 Daniel Flanagan reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33639934, 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.139 HIBCH Ain Roesley reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026795, 25251209, 24299452, 32677093; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HES7 Ain Roesley reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: None; Publications: 29459493, 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#613686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9616 MYH10 Krithika Murali gene: MYH10 was added
gene: MYH10 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH10 were set to 24825879; 24901346; 25356899; 22495309; 25003005
Phenotypes for gene: MYH10 were set to Microcephaly; Intellectual Disability
Review for gene: MYH10 was set to GREEN
Added comment: De novo variants were identified in 5 unrelated individuals with moderate-severe ID and developmental delay.

Other reported phenotypic features include microcephaly (4/5), IUGR/failure to thrive (4/5), cerebral atrophy (3/5), hydrocephalus (2/5), congenital bilateral hip dysplasia (2/5), cerebellar atrophy (1/5), congenital diaphragmatic hernia (1/5), cranial nerve palsy (1/5), nystagmus (1/5), dysplastic kidney (1/5).

Defects in heart development, body wall closure and other birth defects noted in mouse models.
Sources: Expert list, Literature
Intellectual disability syndromic and non-syndromic v0.4255 MYH10 Krithika Murali gene: MYH10 was added
gene: MYH10 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH10 were set to 24825879; 24901346; 25356899; 22495309; 25003005
Phenotypes for gene: MYH10 were set to Microcephaly; Intellectual Disability
Review for gene: MYH10 was set to GREEN
Added comment: De novo variants were identified in 5 unrelated individuals with moderate-severe ID and developmental delay.

Other reported phenotypic features include microcephaly (4/5), IUGR/failure to thrive (4/5), cerebral atrophy (3/5), hydrocephalus (2/5), congenital bilateral hip dysplasia (2/5), cerebellar atrophy (1/5), congenital diaphragmatic hernia (1/5), cranial nerve palsy (1/5), nystagmus (1/5), dysplastic kidney (1/5).

Defects in heart development, body wall closure and other birth defects noted in mouse models.
Sources: Expert list, Literature
Microcephaly v1.67 MYH10 Krithika Murali gene: MYH10 was added
gene: MYH10 was added to Microcephaly. Sources: Expert list,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH10 were set to 24825879; 24901346; 25356899; 22495309; 25003005
Phenotypes for gene: MYH10 were set to Microcephaly; Intellectual Disability
Review for gene: MYH10 was set to GREEN
Added comment: De novo variants were identified in 5 unrelated individuals with moderate-severe ID and developmental delay.

Other reported phenotypic features include microcephaly (4/5), IUGR/failure to thrive (4/5), cerebral atrophy (3/5), hydrocephalus (2/5), congenital bilateral hip dysplasia (2/5), cerebellar atrophy (1/5), congenital diaphragmatic hernia (1/5), cranial nerve palsy (1/5), nystagmus (1/5), dysplastic kidney (1/5).

Defects in heart development, body wall closure and other birth defects noted in mouse models.
Sources: Expert list, Literature
Fetal anomalies v0.139 HBA2 Ain Roesley reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131, Heinz body anemias, alpha-, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HBA1 Ain Roesley reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131, Heinz body anemias, alpha-, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HADHA Ain Roesley reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HAAO Ain Roesley reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: None; Publications: 28792876, 33942433; Phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 L2HGDH Daniel Flanagan reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: 20052767; Phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9616 CSF2RB Zornitza Stark Marked gene: CSF2RB as ready
Mendeliome v0.9616 CSF2RB Zornitza Stark Gene: csf2rb has been classified as Green List (High Evidence).
Mendeliome v0.9616 CSF2RB Zornitza Stark Phenotypes for gene: CSF2RB were changed from to Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370
Mendeliome v0.9615 CSF2RB Zornitza Stark Publications for gene: CSF2RB were set to
Mendeliome v0.9614 CSF2RB Zornitza Stark Mode of inheritance for gene: CSF2RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9613 CSF2RB Zornitza Stark reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205713, 27514590, 7568173, 30846703; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.264 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Additional findings_Paediatric v0.264 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.264 CSF2RA Zornitza Stark Phenotypes for gene: CSF2RA were changed from Pulmonary alveolar proteinosis to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Additional findings_Paediatric v0.263 CSF2RA Zornitza Stark Publications for gene: CSF2RA were set to
Additional findings_Paediatric v0.262 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.261 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20622029, 25425184, 18955570; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v1.2 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA 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 BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v1.1 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9613 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Mendeliome v0.9613 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Mendeliome v0.9613 CSF2RA Zornitza Stark Phenotypes for gene: CSF2RA were changed from to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Mendeliome v0.9612 CSF2RA Zornitza Stark Publications for gene: CSF2RA were set to
Mendeliome v0.9611 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9610 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20622029, 25425184, 18955570; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.139 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Fetal anomalies v0.139 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Fetal anomalies v0.139 CCBE1 Zornitza Stark Phenotypes for gene: CCBE1 were changed from HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
Fetal anomalies v0.138 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Hydrops fetalis v0.211 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Hydrops fetalis v0.211 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.211 CCBE1 Zornitza Stark Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
Hydrops fetalis v0.210 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Hydrops fetalis v0.209 CCBE1 Zornitza Stark Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.208 CCBE1 Zornitza Stark reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.36 RTEL1 Zornitza Stark Marked gene: RTEL1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.36 RTEL1 Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.36 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
Pulmonary Fibrosis_Interstitial Lung Disease v0.35 RTEL1 Zornitza Stark Publications for gene: RTEL1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.34 RTEL1 Zornitza Stark Mode of inheritance for gene: RTEL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 RTEL1 Zornitza Stark reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25848748, 25607374, 23959892; Phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.137 QRICH1 Zornitza Stark Mode of inheritance for gene: QRICH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.136 QRICH1 Zornitza Stark Classified gene: QRICH1 as Amber List (moderate evidence)
Fetal anomalies v0.136 QRICH1 Zornitza Stark Gene: qrich1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.135 QRICH1 Zornitza Stark changed review comment from: Eight unrelated individuals reported with expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behaviour deficits as clinical hallmarks. One individual reported with nephroblastoma.; to: Eight unrelated individuals reported with expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behaviour deficits as clinical hallmarks. One individual reported with nephroblastoma.

IUGR rarely reported. Other features are unlikely to be detectable perinatally.
Fetal anomalies v0.135 QRICH1 Zornitza Stark edited their review of gene: QRICH1: Changed rating: AMBER
Fetal anomalies v0.135 FAM111A Zornitza Stark Marked gene: FAM111A as ready
Fetal anomalies v0.135 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Fetal anomalies v0.135 FAM111A Zornitza Stark Phenotypes for gene: FAM111A were changed from KENNY-CAFFEY SYNDROME to Kenny-Caffey syndrome, type 2, MIM# 127000
Fetal anomalies v0.134 FAM111A Zornitza Stark Publications for gene: FAM111A were set to
Fetal anomalies v0.133 FAM111A Zornitza Stark Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.132 FAM111A Zornitza Stark changed review comment from: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia.
Sources: Literature; to: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia. Prenatal presentation reported.
Sources: Literature
Fetal anomalies v0.132 FAM111A Zornitza Stark edited their review of gene: FAM111A: Changed publications: 32996714, 23684011, 33750016; Changed phenotypes: Kenny-Caffey syndrome, type 2, MIM# 127000
Intellectual disability syndromic and non-syndromic v0.4255 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Intellectual disability syndromic and non-syndromic v0.4255 CSF1R Zornitza Stark Gene: csf1r has been classified as Amber List (Moderate Evidence).
Regression v0.384 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Regression v0.384 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Regression v0.384 CSF1R Zornitza Stark Phenotypes for gene: CSF1R were changed from to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Intellectual disability syndromic and non-syndromic v0.4255 CSF1R Zornitza Stark Classified gene: CSF1R as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4255 CSF1R Zornitza Stark Gene: csf1r has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4254 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to 30982609; 33749994; 34135456
Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Review for gene: CSF1R was set to AMBER
Added comment: Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.

Four unrelated families reported.

Note mono-allelic variants cause an adult-onset disorder.
Sources: Literature
Regression v0.383 CSF1R Zornitza Stark Publications for gene: CSF1R were set to
Regression v0.382 CSF1R Zornitza Stark Mode of inheritance for gene: CSF1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.381 CSF1R Zornitza Stark reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 30982609, 33749994, 34135456; Phenotypes: Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476, BANDDOS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4253 RNPC3 Zornitza Stark Marked gene: RNPC3 as ready
Intellectual disability syndromic and non-syndromic v0.4253 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4253 RNPC3 Zornitza Stark Classified gene: RNPC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4253 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4252 RNPC3 Zornitza Stark gene: RNPC3 was added
gene: RNPC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182
Phenotypes for gene: RNPC3 were set to Growth hormone deficiency; Intellectual disability
Review for gene: RNPC3 was set to AMBER
Added comment: Three families reported, ID in two.
Sources: Literature
Growth failure v1.16 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability
Growth failure v1.15 RNPC3 Zornitza Stark Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542
Growth failure v1.14 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Growth failure v1.14 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Growth failure v1.13 RNPC3 Zornitza Stark edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability
Pituitary hormone deficiency v0.23 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability
Pituitary hormone deficiency v0.22 RNPC3 Zornitza Stark Publications for gene: RNPC3 were set to 29866761; 32462814
Pituitary hormone deficiency v0.21 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Pituitary hormone deficiency v0.21 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.20 RNPC3 Zornitza Stark edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability
Mendeliome v0.9610 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability
Mendeliome v0.9609 RNPC3 Zornitza Stark Publications for gene: RNPC3 were set to 29866761; 32462814
Mendeliome v0.9608 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Mendeliome v0.9608 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Mendeliome v0.9607 RNPC3 Zornitza Stark edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability
Intellectual disability syndromic and non-syndromic v0.4251 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Intellectual disability syndromic and non-syndromic v0.4251 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4251 KCNQ2 Zornitza Stark Phenotypes for gene: KCNQ2 were changed from to Developmental and epileptic encephalopathy 7, MIM# 613720; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.4250 KCNQ2 Zornitza Stark Publications for gene: KCNQ2 were set to
Intellectual disability syndromic and non-syndromic v0.4249 KCNQ2 Zornitza Stark Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4248 KCNQ2 Zornitza Stark reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33659638, 33754465; Phenotypes: Developmental and epileptic encephalopathy 7, MIM# 613720, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.132 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Fetal anomalies v0.132 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.132 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from reduced fetal movements; PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); hydrops fetalis; Pterygium to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291
Fetal anomalies v0.131 BICD2 Zornitza Stark Publications for gene: BICD2 were set to 27751653; 30054298; 29274205; 28635954
Fetal anomalies v0.130 BICD2 Zornitza Stark Deleted their comment
Fetal anomalies v0.130 BICD2 Zornitza Stark edited their review of gene: BICD2: Added comment: Prenatal presentations reported.; Changed rating: GREEN; Changed publications: 33547725
Heterotaxy v1.10 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Heterotaxy v1.10 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Heterotaxy v1.10 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC21B were set to 33547761
Phenotypes for gene: TTC21B were set to Heterotaxy
Review for gene: TTC21B was set to RED
Added comment: Bi-allelic variants in this gene are associated with a range of ciliopathies.

Single family reported with two sibs, heterotaxy, and bi-allelic variants in this gene. One sib has additional ciliopathy features.
Sources: Literature
Differences of Sex Development v0.217 COG6 Zornitza Stark Marked gene: COG6 as ready
Differences of Sex Development v0.217 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.217 COG6 Zornitza Stark Classified gene: COG6 as Amber List (moderate evidence)
Differences of Sex Development v0.217 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.216 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG6 were set to 33394555; 32683677
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, MIM# 614576
Review for gene: COG6 was set to AMBER
Added comment: <20 families reported with this type of CDG; two families with multi-system features including significant DSD.
Sources: Literature
Mendeliome v0.9607 COG6 Zornitza Stark changed review comment from: More than 5 unrelated families reported. Key features include growth retardation, developmental delay, microcephaly, liver and gastrointestinal disease, joint contractures and episodic fever. Ectodermal signs such as hypohidrosis/hyperthermia, hyperkeratosis and tooth anomalies are prominent. Note Shaheen syndrome, MIM#615328 is an allelic disorder, with overlapping clinical features, but normal transferring isoforms recorded creating confusion about whether it represents a distinct entity.; to: More than 5 unrelated families reported. Key features include growth retardation, developmental delay, microcephaly, liver and gastrointestinal disease, joint contractures and episodic fever. Ectodermal signs such as hypohidrosis/hyperthermia, hyperkeratosis and tooth anomalies are prominent. Note Shaheen syndrome, MIM#615328 is an allelic disorder, with overlapping clinical features, but normal transferrin isoforms recorded creating confusion about whether it represents a distinct entity.
Intellectual disability syndromic and non-syndromic v0.4248 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability, no OMIM# yet to Intellectual disability; Epilepsy
Intellectual disability syndromic and non-syndromic v0.4247 OTUD7A Zornitza Stark Publications for gene: OTUD7A were set to PMID: 31997314; 29395075; 29395074
Intellectual disability syndromic and non-syndromic v0.4246 OTUD7A Zornitza Stark Classified gene: OTUD7A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4246 OTUD7A Zornitza Stark Gene: otud7a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4245 OTUD7A Zornitza Stark edited their review of gene: OTUD7A: Added comment: Additional patient reported in PMID 33381903, with hypotonia, ID and seizures. Bi-allelic LoF variants. Some supportive functional data.; Changed rating: AMBER; Changed publications: 31997314, 29395075, 29395074, 33381903; Changed phenotypes: Intellectual disability, Epilepsy
Genetic Epilepsy v0.1377 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, no OMIM# yet to Intellectual disability; Epilepsy
Genetic Epilepsy v0.1376 OTUD7A Zornitza Stark Publications for gene: OTUD7A were set to PMID: 31997314
Genetic Epilepsy v0.1375 OTUD7A Zornitza Stark Classified gene: OTUD7A as Amber List (moderate evidence)
Genetic Epilepsy v0.1375 OTUD7A Zornitza Stark Gene: otud7a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1374 OTUD7A Zornitza Stark reviewed gene: OTUD7A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31997314, 29395075, 29395074, 33381903; Phenotypes: Intellectual disability, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9607 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability, no OMIM# yet to Intellectual disability; Epilepsy
Mendeliome v0.9606 OTUD7A Zornitza Stark Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074
Mendeliome v0.9605 OTUD7A Zornitza Stark Classified gene: OTUD7A as Amber List (moderate evidence)
Mendeliome v0.9605 OTUD7A Zornitza Stark Gene: otud7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9604 OTUD7A Zornitza Stark edited their review of gene: OTUD7A: Changed phenotypes: Intellectual disability, Epilepsy
Mendeliome v0.9604 OTUD7A Zornitza Stark edited their review of gene: OTUD7A: Added comment: Additional patient reported in PMID 33381903, with hypotonia, ID and seizures. Bi-allelic LoF variants. Some supportive functional data.; Changed rating: AMBER; Changed publications: 31997314, 29395075, 29395074, 33381903
Microcephaly v1.67 NUP85 Zornitza Stark Marked gene: NUP85 as ready
Microcephaly v1.67 NUP85 Zornitza Stark Gene: nup85 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.67 NUP85 Zornitza Stark Classified gene: NUP85 as Amber List (moderate evidence)
Microcephaly v1.67 NUP85 Zornitza Stark Gene: nup85 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.66 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 34170319
Phenotypes for gene: NUP85 were set to Primary microcephaly
Review for gene: NUP85 was set to AMBER
Added comment: Bi-allelic variants in this gene are associated with nephrotic syndrome in 3 families.

Phenotypic expansion:
PMID: 34170319 - Ravindran et al 2021 report two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS. In the first family, a 9 yo female, with consanguineous parents, is reported to have a missense variant in NUP85 (c.932G > A; p.R311Q). Intrauterine growth restriction was noticed. At birth microcephaly was observed (OFC < 3rd centile, < −3.6 SD) as well as hypotrophy [weight −2.8 SD), length 45 cm (−2.7 SD), both <3rd centile], facial dysmorphism, syndactyly, long and thin fingers, and bilateral pes adductus. She has severe developmental delay with strongly delayed motor milestones and absent speech. Drug-resistant, genetic epilepsy with focal-onset seizures started in the first year of life. She had no clinical, laboratory or radiological findings indicative of kidney dysfunction. In the second family, compound heterozygous missense variants in NUP85 were detected (c.1109A > G, c.1589 T > C;p.N370S, p.M530T ) in a fetus. MRI of the fetal brain at 24 + 2 GW indicated complete agenesis of the corpus callosum, abnormal sulcation in the left frontal lobe, nodularity of the frontal horn and trigone with focal puckering of the left lateral ventricle.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4245 NUP85 Zornitza Stark Classified gene: NUP85 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4245 NUP85 Zornitza Stark Gene: nup85 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4244 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 34170319; 30179222
Phenotypes for gene: NUP85 were set to Intellectual disability
Review for gene: NUP85 was set to AMBER
Added comment: Bi-allelic variants in this gene are associated with nephrotic syndrome in 3 families.

Phenotype expansion:

PMID: 34170319 - Ravindran et al 2021 report two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS. In the first family, a 9 yo female, with consanguineous parents, is reported to have a missense variant in NUP85 (c.932G > A; p.R311Q). Intrauterine growth restriction was noticed. At birth microcephaly was observed (OFC < 3rd centile, < −3.6 SD) as well as hypotrophy [weight −2.8 SD), length 45 cm (−2.7 SD), both <3rd centile], facial dysmorphism, syndactyly, long and thin fingers, and bilateral pes adductus. She has severe developmental delay with strongly delayed motor milestones and absent speech. Drug-resistant, genetic epilepsy with focal-onset seizures started in the first year of life. She had no clinical, laboratory or radiological findings indicative of kidney dysfunction. In the second family, compound heterozygous missense variants in NUP85 were detected (c.1109A > G, c.1589 T > C;p.N370S, p.M530T ) in a fetus. MRI of the fetal brain at 24 + 2 GW indicated complete agenesis of the corpus callosum, abnormal sulcation in the left frontal lobe, nodularity of the frontal horn and trigone with focal puckering of the left lateral ventricle.

PMID: 30179222 - Braun et al 2018 - 2 individuals from 1 of the families reported with steroid-resistant nephrotic syndrome were also reported to have intellectual disability but showed no structural brain defects. The degree of intellectual disability is not stated. They were found to have 2 compound heterozygous alleles (c.405+1G>A and c.1741G>C, p.Ala581Pro) in NUP85.
Sources: Literature
Vascular Malformations_Somatic v1.7 GNB2 Zornitza Stark Marked gene: GNB2 as ready
Vascular Malformations_Somatic v1.7 GNB2 Zornitza Stark Gene: gnb2 has been classified as Red List (Low Evidence).
Vascular Malformations_Somatic v1.7 GNB2 Zornitza Stark gene: GNB2 was added
gene: GNB2 was added to Vascular Malformations_Somatic. Sources: Literature
somatic tags were added to gene: GNB2.
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 34124757
Phenotypes for gene: GNB2 were set to Sturge-Weber syndrome, somatic, mosaic
Mode of pathogenicity for gene: GNB2 was set to Other
Review for gene: GNB2 was set to RED
Added comment: PMID: 34124757 Fjaer et al 2021 report 1 case of a patient with phenotypic features of Sturge–Weber syndrome (skin legion on left eyelid, nose and brow, mild intellectual disability, refractory eplipsy, left-sided leptomeningeal vascular malformation and atrophy, no eye abnormality) and a variant in GNB2 (NM_005273.3):c.232A>G:p.Lys78Glu, which was present in 6% of the reads from the lesional dermis and 21% of the reads in an endothelial culture from the biopsy, but only present at 0.15% of the reads in non-lesional dermis. The patient was negative for the GNAQ R183Q variant more frequently associated with Sturge–Weber syndrome.
Sources: Literature
Mendeliome v0.9604 GNAQ Zornitza Stark Tag somatic tag was added to gene: GNAQ.
Mendeliome v0.9604 GNAQ Zornitza Stark Marked gene: GNAQ as ready
Mendeliome v0.9604 GNAQ Zornitza Stark Gene: gnaq has been classified as Green List (High Evidence).
Mendeliome v0.9604 GNAQ Zornitza Stark Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic 185300; Capillary malformations, congenital, 1, somatic, mosaic 163000; Phacomatosis pigmentovascularis
Mendeliome v0.9603 GNAQ Zornitza Stark Publications for gene: GNAQ were set to
Mendeliome v0.9602 GNAQ Zornitza Stark Mode of pathogenicity for gene: GNAQ was changed from to Other
Mendeliome v0.9601 GNAQ Zornitza Stark Mode of inheritance for gene: GNAQ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9600 GNAQ Zornitza Stark reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30920161; Phenotypes: Sturge-Weber syndrome, somatic, mosaic 185300, Capillary malformations, congenital, 1, somatic, mosaic 163000, Phacomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v1.0 Zornitza Stark promoted panel to version 1.0
Severe early-onset obesity v0.94 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Severe early-onset obesity v0.93 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Severe early-onset obesity v0.93 WDPCP Zornitza Stark Gene: wdpcp has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.93 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from Congenital Obesity to Bardet-Biedl syndrome 15, MIM# 615992
Severe early-onset obesity v0.92 WDPCP Zornitza Stark Publications for gene: WDPCP were set to 26518167
Severe early-onset obesity v0.91 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.90 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Severe early-onset obesity v0.90 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.90 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from ?Bardet-Biedl syndrome 11; 615988 to Bardet-Biedl syndrome 11, MIM# 615988
Severe early-onset obesity v0.89 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Severe early-onset obesity v0.88 MRAP2 Zornitza Stark Marked gene: MRAP2 as ready
Severe early-onset obesity v0.88 MRAP2 Zornitza Stark Gene: mrap2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.88 MRAP2 Zornitza Stark Phenotypes for gene: MRAP2 were changed from Prader-Willi syndrome; obesity; {?Obesity, susceptibility to, BMIQ18} to Susceptibility to obesity, MIM#615457
Severe early-onset obesity v0.87 MRAP2 Zornitza Stark Publications for gene: MRAP2 were set to 26795956 - a rare nonsynonymous variant, p.A40S, was detected in the MRAP2 gene in a 10-year old boy with overall obesity in combination with intellectual disability in a screen of Prader-Willi syndrome (PWS) patients. The clinically diagnosed PWS could not be confirmed molecularly with MS-MLPA and CNV analysis of the 6q14.1 q16.3 region also showed no deletions in this patient. No further family data were available to determine whether the variant segregates with obesity in this family. It was shown to be (probably) damaging by in silico analysis and found in only one European (non-Finnish) individual in the ExAC database (since this database cannot release phenotype information about the screened individuals, no conclusions regarding causality of this variant can be drawn).; 27474872 - screened the entire coding region of MRAP2 for mutations in 184 children and adolescents with extreme obesity and 184 healthy lean controls. Nonsynonymous variants were then genotyped in a larger, independent study group of 300 children and adolescents with extreme obesity and 436 controls. Detected variants were also analyzed in vitro to determine their effects on MC4R signaling: p.Gln174Arg was the only variant to show an effect by reducing MC4R signalling function. Heterozygous variants were described in 4 individuals. For only two (p.Ala137Thr and p.Arg125His) were relatives also available, and the mothers of the probands were also heterozygous and had not/did not display an obesity phenotype. "In sum, our family-based genetic data do not support the relevance of the two presumably benign MRAP2 mutations for the development of obesity, they might even have no influence on body weight regulation...additional functional analyses could well reveal a functional effect of all nonsynonymous MRAP2 mutations." "We detected association of nonsynonymous MRAP2 mutations to obesity (eight carriers of nonsynonymous mutations in 1,334 individuals with obesity vs. zero carriers of nonsynonymous mutations in 1,108 controls, nominal Fisher exact two-sided P<0.005) in a crude meta-analysis on all currently available data."; 23869016 - sequenced the coding region and intron/exon boundaries of MRAP2 in obese and control individuals from the Genetics of Obesity Study (GOOS) cohort and the Swedish obese children s cohort. They describe identifying 4 heterozygous variants in 4 individuals with severe obesity, of which only one was predicted to be damaging (E24X)
Severe early-onset obesity v0.86 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Severe early-onset obesity v0.86 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.86 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991 to Bardet-Biedl syndrome 14, MIM# 615991
Severe early-onset obesity v0.85 CEP290 Zornitza Stark Classified gene: CEP290 as Green List (high evidence)
Severe early-onset obesity v0.85 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.84 PPARG Zornitza Stark Marked gene: PPARG as ready
Severe early-onset obesity v0.84 PPARG Zornitza Stark Gene: pparg has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.84 PPARG Zornitza Stark Phenotypes for gene: PPARG were changed from [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338 to Obesity, severe, MIM#601665
Severe early-onset obesity v0.83 PPARG Zornitza Stark Publications for gene: PPARG were set to
Severe early-onset obesity v0.82 PPARG Zornitza Stark Mode of inheritance for gene: PPARG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.81 NR0B2 Zornitza Stark Marked gene: NR0B2 as ready
Severe early-onset obesity v0.81 NR0B2 Zornitza Stark Gene: nr0b2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.81 NR0B2 Zornitza Stark Phenotypes for gene: NR0B2 were changed from Congenital Obesity; Obesity, mild, early-onset, 601665 to Obesity, mild, early-onset MIM#601665
Severe early-onset obesity v0.80 NR0B2 Zornitza Stark Publications for gene: NR0B2 were set to
Severe early-onset obesity v0.79 NR0B2 Zornitza Stark Mode of inheritance for gene: NR0B2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.78 MAGEL2 Zornitza Stark Marked gene: MAGEL2 as ready
Severe early-onset obesity v0.78 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.78 MAGEL2 Zornitza Stark Phenotypes for gene: MAGEL2 were changed from Congenital Obesity to Schaaf-Yang syndrome, MIM# 615547; Obesity
Severe early-onset obesity v0.77 MAGEL2 Zornitza Stark Publications for gene: MAGEL2 were set to
Severe early-onset obesity v0.76 MAGEL2 Zornitza Stark Mode of inheritance for gene: MAGEL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Severe early-onset obesity v0.75 MAGEL2 Zornitza Stark Classified gene: MAGEL2 as Green List (high evidence)
Severe early-onset obesity v0.75 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.74 PPARG Daniel Flanagan reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9425261, 9753710; Phenotypes: Obesity, severe, MIM#601665; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.74 NR0B2 Daniel Flanagan reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 11136233, 15459958; Phenotypes: Obesity, mild, early-onset MIM#601665; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.74 MRAP2 Daniel Flanagan reviewed gene: MRAP2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23869016, 31700171, 27474872, 26795956; Phenotypes: Susceptibility to obesity, MIM#615457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.74 NR0B2 Daniel Flanagan Deleted their review
Severe early-onset obesity v0.74 NR0B2 Daniel Flanagan reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23869016, 31700171, 27474872, 26795956; Phenotypes: Susceptibility to obesity, MIM#615457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.130 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Fetal anomalies v0.130 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.130 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from PONTOCEREBELLAR HYPOPLASIA to Pontocerebellar hypoplasia, type 9, MIM#615809
Fetal anomalies v0.129 AMPD2 Zornitza Stark Publications for gene: AMPD2 were set to
Mendeliome v0.9600 AKR1C2 Zornitza Stark Marked gene: AKR1C2 as ready
Mendeliome v0.9600 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Mendeliome v0.9600 AKR1C2 Zornitza Stark Phenotypes for gene: AKR1C2 were changed from to 46XY sex reversal 8, MIM# 614279; Obesity
Mendeliome v0.9599 AKR1C2 Zornitza Stark Publications for gene: AKR1C2 were set to
Mendeliome v0.9598 AKR1C2 Zornitza Stark Mode of inheritance for gene: AKR1C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9597 AKR1C2 Zornitza Stark Classified gene: AKR1C2 as Red List (low evidence)
Mendeliome v0.9597 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Mendeliome v0.9596 AKR1C2 Zornitza Stark reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: 21802064, 25322899, 33675863; Phenotypes: 46XY sex reversal 8, MIM# 614279, Obesity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.74 AKR1C2 Zornitza Stark Marked gene: AKR1C2 as ready
Severe early-onset obesity v0.74 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.74 AKR1C2 Zornitza Stark Phenotypes for gene: AKR1C2 were changed from Obesity, hyperphagia, and developmental delay to Obesity
Severe early-onset obesity v0.73 AKR1C2 Zornitza Stark Publications for gene: AKR1C2 were set to
Severe early-onset obesity v0.72 AKR1C2 Zornitza Stark Mode of inheritance for gene: AKR1C2 was changed from to Unknown
Severe early-onset obesity v0.71 MAGEL2 Daniel Flanagan reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30238631, 24076603, 27195816; Phenotypes: Obesity, Excessive weight gain; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Severe early-onset obesity v0.71 AKR1C2 Daniel Flanagan reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33675863, 25322899; Phenotypes: Obesity; Mode of inheritance: Unknown
Mendeliome v0.9596 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Mendeliome v0.9596 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Mendeliome v0.9596 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from to Osteopathia striata with cranial sclerosis, MIM# 300373
Mendeliome v0.9595 AMER1 Zornitza Stark Publications for gene: AMER1 were set to
Mendeliome v0.9594 AMER1 Zornitza Stark Mode of inheritance for gene: AMER1 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 v0.9593 AMER1 Zornitza Stark reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20209645, 19079258; Phenotypes: Osteopathia striata with cranial sclerosis, MIM# 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.128 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Fetal anomalies v0.128 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Fetal anomalies v0.128 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS to Osteopathia striata with cranial sclerosis, MIM# 300373
Fetal anomalies v0.127 AMER1 Zornitza Stark Publications for gene: AMER1 were set to 28425981
Fetal anomalies v0.126 AMER1 Zornitza Stark reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20209645, 19079258; Phenotypes: Osteopathia striata with cranial sclerosis, MIM# 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.126 ALX4 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Bi-allelic variants are associated with FND and mono-allelic variants are associated with parietal foramina.
Fetal anomalies v0.126 ALX4 Zornitza Stark edited their review of gene: ALX4: Changed phenotypes: Frontonasal dysplasia 2, MIM# 613451, Parietal foramina 2, MIM# 609597
Fetal anomalies v0.126 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Fetal anomalies v0.126 ALX4 Zornitza Stark Gene: alx4 has been classified as Green List (High Evidence).
Fetal anomalies v0.126 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from FRONTONASAL DYSPLASIA 2; PARIETAL FORAMINA 2 to Frontonasal dysplasia 2, MIM# 613451; Parietal foramina 2, MIM# 609597
Fetal anomalies v0.125 ALX4 Zornitza Stark Publications for gene: ALX4 were set to
Fetal anomalies v0.124 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.123 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.122 ALX4 Zornitza Stark changed review comment from: Majority of affected individuals have normal intelligence.; to: Well established gene-disease association.
Fetal anomalies v0.122 ALX4 Zornitza Stark edited their review of gene: ALX4: Changed rating: GREEN
Fetal anomalies v0.122 ALX3 Zornitza Stark Marked gene: ALX3 as ready
Fetal anomalies v0.122 ALX3 Zornitza Stark Gene: alx3 has been classified as Green List (High Evidence).
Fetal anomalies v0.122 ALX3 Zornitza Stark Phenotypes for gene: ALX3 were changed from FRONTONASAL DYSPLASIA TYPE 1 to Frontonasal dysplasia 1, MIM#136760
Fetal anomalies v0.121 ALX3 Zornitza Stark Publications for gene: ALX3 were set to
Fetal anomalies v0.120 ALX3 Zornitza Stark changed review comment from: Majority have normal intellectual function, demote to Amber.; to: Well established gene-disease association.
Fetal anomalies v0.120 ALX3 Zornitza Stark Deleted their comment
Fetal anomalies v0.120 ALX3 Zornitza Stark edited their review of gene: ALX3: Changed rating: GREEN
Fetal anomalies v0.120 ALX1 Zornitza Stark Marked gene: ALX1 as ready
Fetal anomalies v0.120 ALX1 Zornitza Stark Gene: alx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.120 ALX1 Zornitza Stark Phenotypes for gene: ALX1 were changed from FRONTONASAL DYSPLASIA TYPE 3 to Frontonasal dysplasia 3, MIM#613456
Fetal anomalies v0.119 ALX1 Zornitza Stark Publications for gene: ALX1 were set to
Fetal anomalies v0.118 ALX1 Zornitza Stark changed review comment from: Two families reported with balletic variants in this gene and frontonasal dysplasia. Unclear whether intellectual disability is truly part of the phenotype or whether intellectual ability difficult to assess in presence of severe craniofacial abnormality.; to: Two families reported with balletic variants in this gene and frontonasal dysplasia, supportive animal models.
Fetal anomalies v0.118 ALX1 Zornitza Stark edited their review of gene: ALX1: Changed rating: GREEN
Fetal anomalies v0.118 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Fetal anomalies v0.118 KMT5B Zornitza Stark Gene: kmt5b has been classified as Red List (Low Evidence).
Fetal anomalies v0.118 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from KMT5B syndrome to Mental retardation, autosomal dominant 51, MIM#617788
Fetal anomalies v0.117 KMT5B Zornitza Stark Publications for gene: KMT5B were set to
Fetal anomalies v0.116 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.115 KMT5B Zornitza Stark changed review comment from: Multiple affected individuals from unrelated families.
Sources: Expert list; to: Multiple affected individuals from unrelated families. Predominantly presents with ID/autism, multiple congenital anomalies are not typically present.
Sources: Expert list
Fetal anomalies v0.115 KMT5B Zornitza Stark edited their review of gene: KMT5B: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.4243 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Intellectual disability syndromic and non-syndromic v0.4243 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.115 ALPL Zornitza Stark Marked gene: ALPL as ready
Fetal anomalies v0.115 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Fetal anomalies v0.115 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from HYPOPHOSPHATASIA to Hypophosphatasia, infantile MIM# 241500
Fetal anomalies v0.114 ALPL Zornitza Stark Publications for gene: ALPL were set to
Fetal anomalies v0.113 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.112 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Fetal anomalies v0.112 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Fetal anomalies v0.112 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from ALSTROM SYNDROME to Alstrom syndrome, MIM# 203800
Fetal anomalies v0.111 ALMS1 Zornitza Stark changed review comment from: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism; to: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism.

Congenital anomalies are a rare feature.
Fetal anomalies v0.111 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Fetal anomalies v0.111 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Fetal anomalies v0.111 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from ALG8-CDG to Congenital disorder of glycosylation, type Ih, MIM# 608104
Fetal anomalies v0.110 ALG8 Zornitza Stark Publications for gene: ALG8 were set to
Fetal anomalies v0.109 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Fetal anomalies v0.109 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Fetal anomalies v0.109 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from ALG6-CDG to Congenital disorder of glycosylation, type Ic (MIM#603147)
Fetal anomalies v0.108 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Fetal anomalies v0.107 ALG6 Zornitza Stark changed review comment from: Over 100 affected individuals reported.

PMID 27498540 summarises findings in 41 patients. Hypotonia and developmental delay were reported in all. Other common features include epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in <50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year-old. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype-phenotype correlation.; to: Over 100 affected individuals reported. Mostly neurological features, though rare congenital anomalies such as missing phalanges reported.

PMID 27498540 summarises findings in 41 patients. Hypotonia and developmental delay were reported in all. Other common features include epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in <50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year-old. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype-phenotype correlation.
Fetal anomalies v0.107 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Fetal anomalies v0.107 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Fetal anomalies v0.107 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from ALG3-CDG to Congenital disorder of glycosylation, type Id, MIM# 601110
Fetal anomalies v0.106 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Fetal anomalies v0.106 ALG12 Zornitza Stark Gene: alg12 has been classified as Green List (High Evidence).
Fetal anomalies v0.106 ALG12 Zornitza Stark Phenotypes for gene: ALG12 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G to Congenital disorder of glycosylation, type Ig, MIM# 607143
Fetal anomalies v0.105 ALG12 Zornitza Stark Publications for gene: ALG12 were set to
Fetal anomalies v0.104 ALG12 Zornitza Stark changed review comment from: Two individuals reported as part of a CDH cohort.
Sources: Literature; to: Multiple congenital anomalies, including cardiac, skeletal, CDH reported.
Sources: Literature
Fetal anomalies v0.104 ALG12 Zornitza Stark edited their review of gene: ALG12: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.4243 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik, MIM# 608540
Intellectual disability syndromic and non-syndromic v0.4242 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Intellectual disability syndromic and non-syndromic v0.4241 ALG1 Zornitza Stark Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4240 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1374 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Genetic Epilepsy v0.1374 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1374 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik, MIM# 608540
Genetic Epilepsy v0.1373 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Genetic Epilepsy v0.1372 ALG1 Zornitza Stark Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1371 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9593 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Mendeliome v0.9593 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Mendeliome v0.9593 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik, MIM# 608540
Mendeliome v0.9592 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Mendeliome v0.9591 ALG1 Zornitza Stark Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9590 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.104 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Fetal anomalies v0.104 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.104 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from ALG1-CDG to Congenital disorder of glycosylation, type Ik, MIM# 608540
Fetal anomalies v0.103 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Fetal anomalies v0.102 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.101 ADAR Zornitza Stark Marked gene: ADAR as ready
Fetal anomalies v0.101 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Fetal anomalies v0.101 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 to Aicardi-Goutieres syndrome 6, MIM# 615010
Fetal anomalies v0.100 ADAR Zornitza Stark Classified gene: ADAR as Red List (low evidence)
Fetal anomalies v0.100 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Fetal anomalies v0.99 ADAR Zornitza Stark reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.99 ALDOA Zornitza Stark Marked gene: ALDOA as ready
Fetal anomalies v0.99 ALDOA Zornitza Stark Gene: aldoa has been classified as Red List (Low Evidence).
Fetal anomalies v0.99 ALDOA Zornitza Stark Phenotypes for gene: ALDOA were changed from GLYCOGEN STORAGE DISEASE XII to Glycogen storage disease XII, MIM#611881
Fetal anomalies v0.98 ALDOA Zornitza Stark Classified gene: ALDOA as Red List (low evidence)
Fetal anomalies v0.98 ALDOA Zornitza Stark Gene: aldoa has been classified as Red List (Low Evidence).
Fetal anomalies v0.97 ALDOA Zornitza Stark changed review comment from: Only some patients have been reported to have developmental delay; some of these reports pre-date molecular characterisation of this disorder and therefore a firm link with ID is difficult to establish.; to: Typically presents with haemolytic anaemia post-natally.
Fetal anomalies v0.97 ALDOA Zornitza Stark edited their review of gene: ALDOA: Changed rating: RED
Fetal anomalies v0.97 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Fetal anomalies v0.97 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.97 ALDH7A1 Zornitza Stark Phenotypes for gene: ALDH7A1 were changed from PYRIDOXINE-DEPENDENT EPILEPSY to Epilepsy, pyridoxine-dependent, MIM# 266100
Fetal anomalies v0.96 ALDH7A1 Zornitza Stark Classified gene: ALDH7A1 as Red List (low evidence)
Fetal anomalies v0.96 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.95 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.95 ALDH1A3 Zornitza Stark Marked gene: ALDH1A3 as ready
Fetal anomalies v0.95 ALDH1A3 Zornitza Stark Gene: aldh1a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.95 ALDH1A3 Zornitza Stark Phenotypes for gene: ALDH1A3 were changed from ANOPHTHALMIA/MICROPHTHALMIA to Microphthalmia, isolated 8, MIM# 615113
Fetal anomalies v0.94 ALDH1A3 Zornitza Stark Publications for gene: ALDH1A3 were set to
Fetal anomalies v0.93 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Fetal anomalies v0.93 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.93 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from SJOEGREN-LARSSON SYNDROME to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Fetal anomalies v0.92 ALDH3A2 Zornitza Stark Publications for gene: ALDH3A2 were set to
Fetal anomalies v0.91 ALDH3A2 Zornitza Stark Classified gene: ALDH3A2 as Red List (low evidence)
Fetal anomalies v0.91 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.90 ALDH3A2 Zornitza Stark commented on gene: ALDH3A2: Presentation is typically post-natal with ichthyosis and developmental delay, no significant association with multiple congenital anomalies.
Fetal anomalies v0.90 ALDH3A2 Zornitza Stark edited their review of gene: ALDH3A2: Changed rating: RED
Fetal anomalies v0.90 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Fetal anomalies v0.90 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.90 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from Isolated Arhinia/Bosma Arhinia syndrome to Bosma arhinia microphthalmia syndrome (MIM#603457)
Fetal anomalies v0.89 SMCHD1 Zornitza Stark Publications for gene: SMCHD1 were set to
Mendeliome v0.9590 NUP85 Eleanor Williams reviewed gene: NUP85: Rating: ; Mode of pathogenicity: None; Publications: 34170319; Phenotypes: intellectual disability, Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH–SCKS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9590 GNB2 Eleanor Williams reviewed gene: GNB2: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.9590 GNAQ Eleanor Williams reviewed gene: GNAQ: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: None
Mendeliome v0.9590 TUB Zornitza Stark Marked gene: TUB as ready
Mendeliome v0.9590 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9590 TUB Zornitza Stark Phenotypes for gene: TUB were changed from to Retinal dystrophy and obesity, MIM# 616188
Mendeliome v0.9589 TUB Zornitza Stark Publications for gene: TUB were set to
Mendeliome v0.9588 TUB Zornitza Stark Mode of inheritance for gene: TUB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9587 TUB Zornitza Stark Classified gene: TUB as Amber List (moderate evidence)
Mendeliome v0.9587 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9586 TUB Zornitza Stark reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: Retinal dystrophy and obesity, MIM# 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.182 TUB Zornitza Stark Marked gene: TUB as ready
Syndromic Retinopathy v0.182 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.182 TUB Zornitza Stark Phenotypes for gene: TUB were changed from to Retinal dystrophy and obesity, MIM# 616188
Syndromic Retinopathy v0.181 TUB Zornitza Stark Publications for gene: TUB were set to
Syndromic Retinopathy v0.180 TUB Zornitza Stark Classified gene: TUB as Amber List (moderate evidence)
Syndromic Retinopathy v0.180 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.179 TUB Zornitza Stark reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: Retinal dystrophy and obesity, MIM# 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.71 TUB Zornitza Stark Marked gene: TUB as ready
Severe early-onset obesity v0.71 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.71 TUB Zornitza Stark Phenotypes for gene: TUB were changed from ?Retinal dystrophy and obesity, OMIM:616188 to Retinal dystrophy and obesity, MIM# 616188
Severe early-onset obesity v0.70 TUB Zornitza Stark reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal dystrophy and obesity 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.70 Zornitza Stark removed gene:SH2B1 from the panel
Severe early-onset obesity v0.69 PHIP Zornitza Stark Marked gene: PHIP as ready
Severe early-onset obesity v0.69 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Severe early-onset obesity v0.69 PHIP Zornitza Stark Phenotypes for gene: PHIP were changed from dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability to Chung-Jansen syndrome 617991
Severe early-onset obesity v0.68 PHIP Zornitza Stark Classified gene: PHIP as Green List (high evidence)
Severe early-onset obesity v0.68 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Severe early-onset obesity v0.67 PGM2L1 Zornitza Stark Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder; obesity
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Marked gene: PGM2L1 as ready
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Gene: pgm2l1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Classified gene: PGM2L1 as Green List (high evidence)
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Gene: pgm2l1 has been classified as Green List (High Evidence).
Mendeliome v0.9586 KSR2 Zornitza Stark Marked gene: KSR2 as ready
Mendeliome v0.9586 KSR2 Zornitza Stark Gene: ksr2 has been classified as Red List (Low Evidence).
Mendeliome v0.9586 KSR2 Zornitza Stark gene: KSR2 was added
gene: KSR2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KSR2 was set to Other
Publications for gene: KSR2 were set to 29273807; 24209692
Phenotypes for gene: KSR2 were set to Obesity
Review for gene: KSR2 was set to RED
Added comment: PMID: 24209692 Targeted deletion of Ksr2 leads to obesity in mice, suggesting a role in energy homeostasis. PMID: 29273807 GWAS identified KSR2 (13 genes studied) implicated in extreme obesity.
Sources: Expert Review
Severe early-onset obesity v0.65 KSR2 Zornitza Stark Marked gene: KSR2 as ready
Severe early-onset obesity v0.65 KSR2 Zornitza Stark Gene: ksr2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.65 KSR2 Zornitza Stark Mode of inheritance for gene: KSR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Other
Severe early-onset obesity v0.64 KSR2 Zornitza Stark Classified gene: KSR2 as Red List (low evidence)
Severe early-onset obesity v0.64 KSR2 Zornitza Stark Gene: ksr2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.63 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Severe early-onset obesity v0.63 INPP5E Zornitza Stark Gene: inpp5e has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.63 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.138 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Congenital Heart Defect v0.138 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.138 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Congenital heart diseases; heterotaxy to Congenital heart diseases; Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884
Congenital Heart Defect v0.137 DNAH11 Zornitza Stark Publications for gene: DNAH11 were set to PMID: 31040315; 32633470
Congenital Heart Defect v0.136 DNAH11 Zornitza Stark Classified gene: DNAH11 as Green List (high evidence)
Congenital Heart Defect v0.136 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.135 DNAH11 Zornitza Stark reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.63 CPE Zornitza Stark Phenotypes for gene: CPE were changed from BDV syndrome, MIM# 619326 to BDV syndrome, MIM# 619326; Intellectual developmental disorder and hypogonadotropic hypogonadism
Severe early-onset obesity v0.62 CPE Zornitza Stark Marked gene: CPE as ready
Severe early-onset obesity v0.62 CPE Zornitza Stark Gene: cpe has been classified as Green List (High Evidence).
Severe early-onset obesity v0.62 CPE Zornitza Stark Phenotypes for gene: CPE were changed from Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 to BDV syndrome, MIM# 619326
Severe early-onset obesity v0.61 CPE Zornitza Stark Publications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766
Severe early-onset obesity v0.60 CPE Zornitza Stark Classified gene: CPE as Green List (high evidence)
Severe early-onset obesity v0.60 CPE Zornitza Stark Gene: cpe has been classified as Green List (High Evidence).
Severe early-onset obesity v0.59 TUB Belinda Chong reviewed gene: TUB: Rating: RED; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: ?Retinal dystrophy and obesity 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe early-onset obesity v0.59 SH2B1 Belinda Chong reviewed gene: SH2B1: Rating: RED; Mode of pathogenicity: None; Publications: 19079260, 32251290, 33214137; Phenotypes: Chromosome 16p11.2 deletion syndrome, 220kb 613444; Mode of inheritance: None
Severe early-onset obesity v0.59 PHIP Belinda Chong reviewed gene: PHIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29209020, 27900362, 23033978; Phenotypes: Chung-Jansen syndrome 617991; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.59 PGM2L1 Belinda Chong reviewed gene: PGM2L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33979636; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe early-onset obesity v0.59 KSR2 Belinda Chong reviewed gene: KSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24209692, 29273807, 28180061, 24997067; Phenotypes: Obesity; Mode of inheritance: None
Severe early-onset obesity v0.59 INPP5E Belinda Chong reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Heart Defect v0.135 DNAH11 Daniel Flanagan gene: DNAH11 was added
gene: DNAH11 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH11 were set to PMID: 31040315; 32633470
Phenotypes for gene: DNAH11 were set to Congenital heart diseases; heterotaxy
Review for gene: DNAH11 was set to GREEN
Added comment: Compound het DNAH11 variants reported in 7 families with congenital heart diseases and heterotaxy.

Biallelic DNAH11 variants commonly reported in patients with primary ciliary dyskinesia.
Sources: Literature
Severe early-onset obesity v0.59 CPE Belinda Chong reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 26120850, 32936766, 34383079; Phenotypes: BDV syndrome 619326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.88 AGPS Zornitza Stark Marked gene: AGPS as ready
Fetal anomalies v0.88 AGPS Zornitza Stark Gene: agps has been classified as Green List (High Evidence).
Fetal anomalies v0.88 AGPS Zornitza Stark Phenotypes for gene: AGPS were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 to Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
Fetal anomalies v0.87 AGPS Zornitza Stark changed review comment from: Variants in this gene cause a skeletal dysplasia, intellect typically normal.; to: Variants in this gene cause a skeletal dysplasia, including congenital contractures.
Fetal anomalies v0.87 AGPS Zornitza Stark edited their review of gene: AGPS: Changed rating: GREEN
Fetal anomalies v0.87 AGL Zornitza Stark Marked gene: AGL as ready
Fetal anomalies v0.87 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
Fetal anomalies v0.87 AGL Zornitza Stark Phenotypes for gene: AGL were changed from GLYCOGEN STORAGE DISEASE TYPE III to Glycogen storage disease IIIa, MIM# 232400
Fetal anomalies v0.86 AGL Zornitza Stark Classified gene: AGL as Red List (low evidence)
Fetal anomalies v0.86 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
Fetal anomalies v0.85 AGL Zornitza Stark changed review comment from: Presentation is typically with muscle, liver and cardiac involvement.; to: Presentation is typically with muscle, liver and cardiac involvement, can be childhood, but many are in adulthood.
Fetal anomalies v0.85 ACTB Zornitza Stark Marked gene: ACTB as ready
Fetal anomalies v0.85 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Fetal anomalies v0.85 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from ACTB Haploinsufficiency syndtome; BARAITSER-WINTER SYNDROME to Baraitser-Winter syndrome 1, MIM#243310
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Severe early-onset obesity v0.58 SCAPER Zornitza Stark gene: SCAPER was added
gene: SCAPER was added to Severe early-onset obesity. Sources: Expert list
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: Expert list
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Classified gene: LZTFL1 as Green List (high evidence)
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.56 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LZTFL1 were set to 22510444; 23692385; 27312011; 22072986
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 (MIM#615994)
Review for gene: LZTFL1 was set to GREEN
Added comment: 3 variants reported in 2 unrelated families, with supporting functional studies. Borderline amber/green

PMID: 22510444; Marion 2012: Hom variant reported in BBS family, presenting with situs invertus. Supporting functional studies performed. Variant not present in gnomad

PMID: 23692385; Schaefer 2014: Compound heterozygous variants reported in twins with BBS, with supporting functional studies. Situs invertus not reported. Variants not in gnomAD at unexpected frquencies.

PMID: 27312011; Jiang 2016: Knockout mice model showed retinal defects and differences in weight compared to wild-type mice.

PMID: 22072986; Seo 2011: LZTFL1 interacts with BBS protein complex and is an important regulator of BBSome ciliary trafficking
Sources: Expert list
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.54 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776; 32144365
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119
Review for gene: IFT74 was set to GREEN
Added comment: Two families and a zebrafish model.
Sources: Expert list
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Classified gene: IFT27 as Green List (high evidence)
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.52 IFT27 Zornitza Stark gene: IFT27 was added
gene: IFT27 was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996
Review for gene: IFT27 was set to GREEN
Added comment: Three families; two with the same variant; functional data.
Sources: Literature
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Classified gene: IFT172 as Green List (high evidence)
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.50 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT172 were set to 30761183; 26763875; 25168386
Phenotypes for gene: IFT172 were set to Bardet-Biedl syndrome 20, MIM# 619471
Review for gene: IFT172 was set to GREEN
Added comment: Three families reported with a BBS phenotype. Gene is associated with other ciliopathies as well.
Sources: Expert list
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Classified gene: CEP164 as Green List (high evidence)
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.48 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP164 were set to 34132027; 34013113; 32055034; 27708425; 22863007
Phenotypes for gene: CEP164 were set to Bardet-Biedl syndrome
Review for gene: CEP164 was set to GREEN
Added comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Obesity is a feature of BBS.
Sources: Expert list
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.46 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 27008867; 26854863
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406
Review for gene: C8orf37 was set to AMBER
Added comment: Two individuals reported with BBS phenotype only; gene is associated with isolated RP as well. Obesity is a feature of BBS.
Sources: Expert list
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.44 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995
Review for gene: BBIP1 was set to AMBER
Added comment: PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene.

PMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD

Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.

Obesity is a feature of BBS.
Sources: Expert list
Severe early-onset obesity v0.43 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Severe early-onset obesity v0.43 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Severe early-onset obesity v0.43 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from Obesity; Cohen syndrome, OMIM:216550 to Cohen syndrome MIM#216550
Severe early-onset obesity v0.42 VPS13B Zornitza Stark Publications for gene: VPS13B were set to
Severe early-onset obesity v0.41 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Severe early-onset obesity v0.41 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.41 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from Obesity; Bardet-Biedl syndrome 8, OMIM:615985 to Bardet-Biedl syndrome 8, MIM# 615985
Severe early-onset obesity v0.40 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Mendeliome v0.9585 SIM1 Zornitza Stark Phenotypes for gene: SIM1 were changed from to congenital obesity; Prader-Willi-like syndrome
Mendeliome v0.9584 SIM1 Zornitza Stark Publications for gene: SIM1 were set to
Mendeliome v0.9583 SIM1 Zornitza Stark Mode of inheritance for gene: SIM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9582 SIM1 Zornitza Stark Classified gene: SIM1 as Green List (high evidence)
Mendeliome v0.9582 SIM1 Zornitza Stark Gene: sim1 has been classified as Green List (High Evidence).
Mendeliome v0.9581 SIM1 Zornitza Stark Deleted their comment
Mendeliome v0.9581 SIM1 Zornitza Stark edited their review of gene: SIM1: Added comment: At least 20 probands with reduced penetrance reported.

PMID:33434169;
1x missense inherited from normal mother

PMID:30926952;
2x unrelated - 1 missense 1 splice. Family history noted

PMID:23778136;
4 children with clinical features of PWL syndrome, including severe obesity - all missense
1x inherited from normal father

PMID:23778139;
at least 13 families with segregation and reduced penetrance evidence - all missense
In vitro luciferase done to show LoF

NOTE:
Individuals with Prader-Willi-like phenotype may have 6q16.2del instead, which encompasses SIM1; Changed rating: GREEN; Changed publications: 33434169, 30926952, 23778136, 23778139; Changed phenotypes: congenital obesity, Prader-Willi-like syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.39 SIM1 Zornitza Stark Marked gene: SIM1 as ready
Severe early-onset obesity v0.39 SIM1 Zornitza Stark Gene: sim1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.39 SIM1 Zornitza Stark Phenotypes for gene: SIM1 were changed from obesity; Congenital Obesity to congenital obesity; Prader-Willi-like syndrome
Severe early-onset obesity v0.38 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Severe early-onset obesity v0.38 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.38 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from Obesity; Bardet-Biedl syndrome 16, OMIM:615993 to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444
Severe early-onset obesity v0.37 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Mendeliome v0.9581 POMC Zornitza Stark Marked gene: POMC as ready
Mendeliome v0.9581 POMC Zornitza Stark Gene: pomc has been classified as Green List (High Evidence).
Mendeliome v0.9581 POMC Zornitza Stark Phenotypes for gene: POMC were changed from to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Mendeliome v0.9580 POMC Zornitza Stark Publications for gene: POMC were set to
Rhabdomyolysis and Metabolic Myopathy v0.84 MLIP Zornitza Stark Marked gene: MLIP as ready
Rhabdomyolysis and Metabolic Myopathy v0.84 MLIP Zornitza Stark Gene: mlip has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.84 MLIP Zornitza Stark Classified gene: MLIP as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.84 MLIP Zornitza Stark Gene: mlip has been classified as Green List (High Evidence).
Mendeliome v0.9579 MLIP Zornitza Stark Marked gene: MLIP as ready
Mendeliome v0.9579 MLIP Zornitza Stark Gene: mlip has been classified as Green List (High Evidence).
Mendeliome v0.9579 MLIP Zornitza Stark Phenotypes for gene: MLIP were changed from 34581780 to MLIP-related myopathy with rhabdomyolysis
Mendeliome v0.9578 MLIP Zornitza Stark Publications for gene: MLIP were set to
Mendeliome v0.9577 MLIP Zornitza Stark Classified gene: MLIP as Green List (high evidence)
Mendeliome v0.9577 MLIP Zornitza Stark Gene: mlip has been classified as Green List (High Evidence).
Growth failure v1.13 STT3A Zornitza Stark Marked gene: STT3A as ready
Growth failure v1.13 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Growth failure v1.13 STT3A Zornitza Stark Classified gene: STT3A as Green List (high evidence)
Growth failure v1.13 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.133 STT3A Zornitza Stark Marked gene: STT3A as ready
Skeletal dysplasia v0.133 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.133 STT3A Zornitza Stark Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003
Skeletal dysplasia v0.132 STT3A Zornitza Stark Classified gene: STT3A as Green List (high evidence)
Skeletal dysplasia v0.132 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4240 STT3A Zornitza Stark Publications for gene: STT3A were set to PMID: 23842455; 30701557; 28424003
Intellectual disability syndromic and non-syndromic v0.4239 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.22 STT3A Zornitza Stark Publications for gene: STT3A were set to 23842455; 30701557; 28424003
Congenital Disorders of Glycosylation v1.21 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4238 KIAA0391 Zornitza Stark reviewed gene: KIAA0391: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4238 KIAA0391 Zornitza Stark Marked gene: KIAA0391 as ready
Intellectual disability syndromic and non-syndromic v0.4238 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4238 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder
Intellectual disability syndromic and non-syndromic v0.4237 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4237 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark Marked gene: KIAA0391 as ready
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder
Deafness_IsolatedAndComplex v1.96 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.96 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Marked gene: KIAA0391 as ready
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder
Mitochondrial disease v0.656 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Green List (high evidence)
Mitochondrial disease v0.656 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Growth failure v1.12 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Growth failure v1.12 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Growth failure v1.12 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Growth failure v1.11 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Growth failure v1.11 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4236 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Intellectual disability syndromic and non-syndromic v0.4236 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4236 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Intellectual disability syndromic and non-syndromic v0.4235 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4235 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Rasopathy v0.92 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Rasopathy v0.92 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Rasopathy v0.92 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Rasopathy v0.91 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Rasopathy v0.91 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Mendeliome v0.9576 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Congenital Heart Defect v0.135 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Congenital Heart Defect v0.135 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.83 MLIP Michelle Torres gene: MLIP was added
gene: MLIP was added to Rhabdomyolysis. Sources: Literature
Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLIP were set to 34581780
Phenotypes for gene: MLIP were set to MLIP-related myopathy with rhabdomyolysis
Review for gene: MLIP was set to GREEN
Added comment: PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746).

In 3 patients patients’ skeletal muscle, these variants were shown to cause reduction overall RNA expression levels of the predominant MLIP isoform.

Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels.
Sources: Literature
Sources: Literature
Congenital Heart Defect v0.135 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Congenital Heart Defect v0.134 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Congenital Heart Defect v0.134 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.197 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Dystonia and Chorea v0.197 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.197 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Dystonia and Chorea v0.197 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Mendeliome v0.9575 MLIP Michelle Torres edited their review of gene: MLIP: Changed publications: 34581780; Changed phenotypes: MLIP-related myopathy with rhabdomyolysis
Intellectual disability syndromic and non-syndromic v0.4234 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Phenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability
Review for gene: KIAA0391 was set to RED
Added comment: Sources: Literature
Mitochondrial disease v0.655 KIAA0391 Lucy Spencer reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34715011; Phenotypes: Hearing loss, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4234 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Intellectual disability syndromic and non-syndromic v0.4234 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4234 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4234 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.95 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Phenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability
Review for gene: KIAA0391 was set to GREEN
Added comment: Sources: Literature
Mitochondrial disease v0.655 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Phenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability
Mendeliome v0.9575 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Mendeliome v0.9575 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Mendeliome v0.9575 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from to Episodic ataxia, type 2 MIM#108500
Mendeliome v0.9574 CACNA1A Zornitza Stark Publications for gene: CACNA1A were set to
Mendeliome v0.9573 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9572 KIAA0391 Lucy Spencer edited their review of gene: KIAA0391: Changed rating: GREEN
Microcephaly v1.65 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Microcephaly v1.65 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Mendeliome v0.9572 CACNA1A Anna Ritchie reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34267336; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9572 KIAA0391 Zornitza Stark edited their review of gene: KIAA0391: Changed rating: GREEN
Mendeliome v0.9572 KIAA0391 Zornitza Stark Marked gene: KIAA0391 as ready
Mendeliome v0.9572 KIAA0391 Zornitza Stark Added comment: Comment when marking as ready: Note gene is referred to as PRORP in the manuscript, but HGNC approved name is KIAA0391.
Mendeliome v0.9572 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mendeliome v0.9572 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from to Mitochondrial disorder
Mendeliome v0.9571 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Green List (high evidence)
Mendeliome v0.9571 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.133 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Microcephaly v1.65 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Microcephaly v1.65 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.196 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

Most individuals presented with spasticity (68%), dystonia (60%), or a combination of the two (52%).
Sources: Literature
Growth failure v1.10 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4233 STT3A Elena Savva reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral Palsy v1.18 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Cerebral Palsy v1.18 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.18 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Cerebral Palsy v1.18 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.20 STT3A Elena Savva reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1371 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Genetic Epilepsy v0.1371 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4233 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Macrocephaly_Megalencephaly v0.93 STT3A Zornitza Stark Marked gene: STT3A as ready
Macrocephaly_Megalencephaly v0.93 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.93 STT3A Zornitza Stark Classified gene: STT3A as Green List (high evidence)
Macrocephaly_Megalencephaly v0.93 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Growth failure v1.10 STT3A Elena Savva gene: STT3A was added
gene: STT3A was added to Growth failure. Sources: Literature
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596
Mode of pathogenicity for gene: STT3A was set to Other
Review for gene: STT3A was set to GREEN
Added comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).
Sources: Literature
Mendeliome v0.9570 STT3A Zornitza Stark Marked gene: STT3A as ready
Mendeliome v0.9570 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Microcephaly v1.64 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

~53% of affected individuals had microcephaly.
Sources: Literature
Mendeliome v0.9570 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from to Congenital disorder of glycosylation, type Iw MIM#615596
Mendeliome v0.9569 KIAA0391 Lucy Spencer changed review comment from: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.

-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism.
-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5.
-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.
-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches.

All variants are in p.400s.
Sources: Literature; to: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.

-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism.
-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5.
-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.
-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches.

All variants are in p.400s.
Sources: Literature
Mendeliome v0.9569 STT3A Zornitza Stark Publications for gene: STT3A were set to
Mendeliome v0.9568 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rasopathy v0.90 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Rasopathy. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Cerebral Palsy v1.17 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

Approximately two-thirds of individuals had spastic-dystonic cerebral palsy.
Sources: Literature
Mendeliome v0.9567 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Added comment: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.

-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism.
-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5.
-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.
-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches.

All variants are in p.400s.
Sources: Literature
Skeletal dysplasia v0.131 STT3A Elena Savva gene: STT3A was added
gene: STT3A was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596
Mode of pathogenicity for gene: STT3A was set to Other
Review for gene: STT3A was set to GREEN
Added comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).
Sources: Literature
Genetic Epilepsy v0.1371 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Genetic Epilepsy v0.1371 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Hirschsprung disease v0.21 RET Zornitza Stark Marked gene: RET as ready
Hirschsprung disease v0.21 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1370 SPATA5L1 Paul De Fazio changed review comment from: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

In 25 patients for whom full phenotype datasets were available, 13 had epilepsy.
Sources: Literature; to: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

~64% of patients had epilepsy.
Sources: Literature
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4233 SPATA5L1 Paul De Fazio changed review comment from: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

In 25 patients for whom full phenotype datasets were available, all 25 had ID.
Sources: Literature; to: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

~53% of patients had ID.
Sources: Literature
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Brain Calcification v1.12 SLC20A2 Teresa Zhao reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34267336; Phenotypes: Basal ganglia calcification MIM#213600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.92 STT3A Elena Savva gene: STT3A was added
gene: STT3A was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596
Mode of pathogenicity for gene: STT3A was set to Other
Review for gene: STT3A was set to GREEN
Added comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).
Sources: Literature
Mendeliome v0.9566 MLIP Michelle Torres gene: MLIP was added
gene: MLIP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLIP were set to 34581780
Review for gene: MLIP was set to GREEN
Added comment: PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746).

In 3 patients patients’ skeletal muscle, these variants were shown to cause reduction overall RNA expression levels of the predominant MLIP isoform.

Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels.
Sources: Literature
Mendeliome v0.9566 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Mendeliome v0.9566 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Mendeliome v0.9566 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Mendeliome v0.9566 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Mendeliome v0.9565 STT3A Elena Savva reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1370 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

In 25 patients for whom full phenotype datasets were available, 13 had epilepsy.
Sources: Literature
Hirschsprung disease v0.21 RET Zornitza Stark Phenotypes for gene: RET were changed from to Multiple endocrine neoplasia IIA, MIM# 171400; Hirschsprung disease
Intellectual disability syndromic and non-syndromic v0.4233 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

In 25 patients for whom full phenotype datasets were available, all 25 had ID.
Sources: Literature
Hirschsprung disease v0.20 RET Zornitza Stark Publications for gene: RET were set to
Hirschsprung disease v0.19 RET Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hirschsprung disease v0.18 RET Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v1.20 KPNA3 Zornitza Stark Marked gene: KPNA3 as ready
Hereditary Spastic Paraplegia v1.20 KPNA3 Zornitza Stark Gene: kpna3 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.20 KPNA3 Zornitza Stark Phenotypes for gene: KPNA3 were changed from infantile onset Hereditary Spastic Paraplegia to Hereditary Spastic Paraplegia, infantile onset
Hereditary Spastic Paraplegia v1.19 KPNA3 Zornitza Stark Classified gene: KPNA3 as Green List (high evidence)
Hereditary Spastic Paraplegia v1.19 KPNA3 Zornitza Stark Gene: kpna3 has been classified as Green List (High Evidence).
Mendeliome v0.9565 KPNA3 Zornitza Stark Marked gene: KPNA3 as ready
Mendeliome v0.9565 KPNA3 Zornitza Stark Gene: kpna3 has been classified as Green List (High Evidence).
Mendeliome v0.9565 KPNA3 Zornitza Stark Phenotypes for gene: KPNA3 were changed from infantile onsetHereditary Spastic Paraplegia to Hereditary Spastic Paraplegia, infantile onset
Mendeliome v0.9564 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.
Sources: Literature
Hereditary Spastic Paraplegia v1.18 KPNA3 Ain Roesley gene: KPNA3 was added
gene: KPNA3 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KPNA3 were set to 34564892
Phenotypes for gene: KPNA3 were set to infantile onset Hereditary Spastic Paraplegia
Penetrance for gene: KPNA3 were set to Complete
Review for gene: KPNA3 was set to GREEN
gene: KPNA3 was marked as current diagnostic
Added comment: 8 affecteds from 5 families with infantile-onset pure HSP
all missense variants, in vitro functional demonstrated reduced cargo binding
Noted that 1 individual had 2 de novo missense in the gene and though 1 is less deleterious than the other in the functional assays, authors were not able to rule out either one as a VUS
Sources: Literature
Mendeliome v0.9564 KPNA3 Zornitza Stark Classified gene: KPNA3 as Green List (high evidence)
Mendeliome v0.9564 KPNA3 Zornitza Stark Gene: kpna3 has been classified as Green List (High Evidence).
Mendeliome v0.9563 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Mitochondrial disease v0.655 P4HTM Zornitza Stark Marked gene: P4HTM as ready
Mitochondrial disease v0.655 P4HTM Zornitza Stark Gene: p4htm has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.655 P4HTM Zornitza Stark Classified gene: P4HTM as Amber List (moderate evidence)
Mitochondrial disease v0.655 P4HTM Zornitza Stark Gene: p4htm has been classified as Amber List (Moderate Evidence).
Hirschsprung disease v0.18 RET Teresa Zhao reviewed gene: RET: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34267336; Phenotypes: Hirschsprung disease (HSCR), MIM#142623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.654 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 25078763; 30940925; 34285383
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to AMBER
Added comment: Mitochondrial dysfunction reported in at least 4 individuals who had muscle biopsies.

P4HTM encodes a transmembrane prolyl 4-hydroxylase with putative targets including hypoxia inducible factors, RNA polymerase II and activating transcription factor 4, which has been implicated in the integrated stress response observed in cell and animal models of mitochondrial disease. Authors postulate this may explain the mitochondrial dysfunction observed in HIDEA syndrome.
Sources: Literature
Mendeliome v0.9563 KPNA3 Ain Roesley gene: KPNA3 was added
gene: KPNA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KPNA3 were set to 34564892
Phenotypes for gene: KPNA3 were set to infantile onsetHereditary Spastic Paraplegia
Penetrance for gene: KPNA3 were set to Complete
Review for gene: KPNA3 was set to GREEN
gene: KPNA3 was marked as current diagnostic
Added comment: 8 affecteds from 5 families with infantile-onset pure HSP
all missense variants, in vitro functional demonstrated reduced cargo binding
Noted that 1 individual had 2 de novo missense in the gene and though 1 is less deleterious than the other in the functional assays, authors were not able to rule out either one as a VUS
Sources: Literature
Dystonia and Chorea v0.196 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Dystonia and Chorea v0.196 CHD8 Zornitza Stark Gene: chd8 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.196 CHD8 Zornitza Stark Classified gene: CHD8 as Amber List (moderate evidence)
Dystonia and Chorea v0.196 CHD8 Zornitza Stark Gene: chd8 has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.195 CHD8 Zornitza Stark gene: CHD8 was added
gene: CHD8 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD8 were set to 34415117
Phenotypes for gene: CHD8 were set to Neurodevelopmental disorder, CHD8-related, MIM#615032; Dystonia
Review for gene: CHD8 was set to AMBER
Added comment: Two individuals reported with marked childhood-onset dystonia on background of neurodevelopmental issues, phenotype expansion.
Sources: Literature
Mendeliome v0.9563 POMC Zornitza Stark Mode of inheritance for gene: POMC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9562 POMC Zornitza Stark reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33666293; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.36 POMC Zornitza Stark Marked gene: POMC as ready
Severe early-onset obesity v0.36 POMC Zornitza Stark Gene: pomc has been classified as Green List (High Evidence).
Severe early-onset obesity v0.36 POMC Zornitza Stark Publications for gene: POMC were set to
Intellectual disability syndromic and non-syndromic v0.4233 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Intellectual disability syndromic and non-syndromic v0.4233 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4233 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Intellectual disability syndromic and non-syndromic v0.4232 PHF6 Zornitza Stark Publications for gene: PHF6 were set to
Intellectual disability syndromic and non-syndromic v0.4231 PHF6 Zornitza Stark Mode of inheritance for gene: PHF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4230 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 16912705; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9562 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Mendeliome v0.9562 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Mendeliome v0.9562 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Mendeliome v0.9561 PHF6 Zornitza Stark Publications for gene: PHF6 were set to
Mendeliome v0.9560 PHF6 Zornitza Stark Mode of inheritance for gene: PHF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9559 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 16912705; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe early-onset obesity v0.35 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Severe early-onset obesity v0.35 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.35 PHF6 Zornitza Stark Publications for gene: PHF6 were set to
Mendeliome v0.9559 PCSK1 Zornitza Stark Marked gene: PCSK1 as ready
Mendeliome v0.9559 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Green List (High Evidence).
Mendeliome v0.9559 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from to Obesity with impaired prohormone processing MIM#600955
Mendeliome v0.9558 PCSK1 Zornitza Stark Publications for gene: PCSK1 were set to
Mendeliome v0.9557 PCSK1 Zornitza Stark Mode of inheritance for gene: PCSK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9556 PCSK1 Zornitza Stark reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30383237; Phenotypes: Obesity with impaired prohormone processing MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.34 PCSK1 Zornitza Stark Marked gene: PCSK1 as ready
Severe early-onset obesity v0.34 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.34 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362 to Obesity with impaired prohormone processing MIM#600955
Severe early-onset obesity v0.33 PCSK1 Zornitza Stark Publications for gene: PCSK1 were set to
Severe early-onset obesity v0.32 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Severe early-onset obesity v0.32 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Tag SV/CNV tag was added to gene: MYT1L.
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from obesity; Mental retardation, autosomal dominant 39, OMIM:616521 to Mental retardation, autosomal dominant 39, MIM# 616521; Obesity
Severe early-onset obesity v0.31 MYT1L Zornitza Stark Publications for gene: MYT1L were set to 25232846; 21990140; 25126114; 26240977; 24129437
Severe early-onset obesity v0.30 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Severe early-onset obesity v0.30 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.30 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Obesity; Bardet-Biedl syndrome 13, OMIM:615990 to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441
Severe early-onset obesity v0.29 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Severe early-onset obesity v0.28 MKKS Zornitza Stark Marked gene: MKKS as ready
Severe early-onset obesity v0.28 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Severe early-onset obesity v0.28 MKKS Zornitza Stark Publications for gene: MKKS were set to
Severe early-onset obesity v0.27 MC4R Zornitza Stark Marked gene: MC4R as ready
Severe early-onset obesity v0.27 MC4R Zornitza Stark Gene: mc4r has been classified as Green List (High Evidence).
Severe early-onset obesity v0.27 MC4R Zornitza Stark Phenotypes for gene: MC4R were changed from Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306 to Obesity (BMIQ20) MIM#618406
Severe early-onset obesity v0.26 MC4R Zornitza Stark Publications for gene: MC4R were set to
Severe early-onset obesity v0.25 LEPR Zornitza Stark Marked gene: LEPR as ready
Severe early-onset obesity v0.25 LEPR Zornitza Stark Gene: lepr has been classified as Green List (High Evidence).
Severe early-onset obesity v0.25 LEPR Zornitza Stark Publications for gene: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581
Severe early-onset obesity v0.24 LEPR Zornitza Stark reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17229951, 29545012; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.24 LEP Zornitza Stark Marked gene: LEP as ready
Severe early-onset obesity v0.24 LEP Zornitza Stark Gene: lep has been classified as Green List (High Evidence).
Severe early-onset obesity v0.24 LEP Zornitza Stark Publications for gene: LEP were set to
Severe early-onset obesity v0.23 LEP Zornitza Stark reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9202122, 12393845, 15472169, 25551525, 7984236; Phenotypes: Obesity, morbid, due to leptin deficiency, MIM# 614962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.23 GNAS Zornitza Stark Marked gene: GNAS as ready
Severe early-onset obesity v0.23 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Severe early-onset obesity v0.23 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ic, OMIM:612462; Pseudohypoparathyroidism Ia, OMIM:103580; Congenital Obesity; Pseudohypoparathyroidism Ib, OMIM:603233 to Pseudohypoparathyroidism Ia, MIM# 103580; Pseudohypoparathyroidism Ic, MIM# 612462; Pseudopseudohypoparathyroidism, MIM# 612463
Severe early-onset obesity v0.22 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580, Pseudohypoparathyroidism Ic, MIM# 612462, Pseudopseudohypoparathyroidism, MIM# 612463; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.9556 SLC4A3 Zornitza Stark Marked gene: SLC4A3 as ready
Mendeliome v0.9556 SLC4A3 Zornitza Stark Gene: slc4a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9556 SLC4A3 Zornitza Stark Classified gene: SLC4A3 as Amber List (moderate evidence)
Mendeliome v0.9556 SLC4A3 Zornitza Stark Gene: slc4a3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.208 EHBP1L1 Zornitza Stark Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops foetalis to Non-immune hydrops fetalis
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Marked gene: EHBP1L1 as ready
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Classified gene: EHBP1L1 as Amber List (moderate evidence)
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9555 EHBP1L1 Zornitza Stark Marked gene: EHBP1L1 as ready
Mendeliome v0.9555 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9555 EHBP1L1 Zornitza Stark Classified gene: EHBP1L1 as Amber List (moderate evidence)
Mendeliome v0.9555 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9554 Zornitza Stark removed gene:DIP2B from the panel
Mendeliome v0.9553 Zornitza Stark removed gene:CNBP from the panel
Mendeliome v0.9552 Zornitza Stark removed gene:BEAN1 from the panel
Mendeliome v0.9551 Zornitza Stark removed gene:ATXN7 from the panel
Mendeliome v0.9550 Zornitza Stark removed gene:ATXN3 from the panel
Mendeliome v0.9549 Zornitza Stark removed gene:ATXN2 from the panel
Mendeliome v0.9548 Zornitza Stark removed gene:ATXN10 from the panel
Mendeliome v0.9547 Zornitza Stark removed gene:ATXN1 from the panel
Mendeliome v0.9546 Zornitza Stark removed gene:ATP13A2 from the panel
Mendeliome v0.9545 Zornitza Stark removed gene:ACTC1 from the panel
Mendeliome v0.9544 Zornitza Stark removed gene:BGN from the panel
Skeletal dysplasia v0.131 BGN Zornitza Stark Marked gene: BGN as ready
Skeletal dysplasia v0.131 BGN Zornitza Stark Gene: bgn has been classified as Green List (High Evidence).
Skeletal dysplasia v0.131 BGN Zornitza Stark Classified gene: BGN as Green List (high evidence)
Skeletal dysplasia v0.131 BGN Zornitza Stark Gene: bgn has been classified as Green List (High Evidence).
Hydrops fetalis v0.206 EHBP1L1 Krithika Murali gene: EHBP1L1 was added
gene: EHBP1L1 was added to Hydrops fetalis. Sources: Expert list,Literature
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to 34645488; 26833786
Phenotypes for gene: EHBP1L1 were set to Non-immune hydrops foetalis
Review for gene: EHBP1L1 was set to AMBER
Added comment: Biallelic EHBP1L1 variants reported in 2 consanguineous families from Saudi Arabia with non-immune hydrops foetalis resulting in recurrent foetal loss. Supportive mouse models also previously reported.
Sources: Expert list, Literature
Mendeliome v0.9543 EHBP1L1 Krithika Murali gene: EHBP1L1 was added
gene: EHBP1L1 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to 34645488; 26833786
Phenotypes for gene: EHBP1L1 were set to Non-immune hydrops fetalis
Review for gene: EHBP1L1 was set to AMBER
Added comment: No OMIM gene disease association.

Biallelic EHBP1L1 variants identified in 2 consanguineous families from Saudi Arabia with non-immune hydrops fetalis resulting in recurrent fetal loss. Supportive mouse models for this phenotype also reported.
Sources: Expert list, Literature
Mendeliome v0.9543 Zornitza Stark removed gene:COL3A1 from the panel
Mendeliome v0.9542 Zornitza Stark removed gene:BRCA2 from the panel
Mendeliome v0.9541 Zornitza Stark removed gene:CACNA1C from the panel
Mendeliome v0.9540 Zornitza Stark removed gene:CDH1 from the panel
Mendeliome v0.9539 COL3A1 Krithika Murali gene: COL3A1 was added
gene: COL3A1 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: COL3A1 was set to Other
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type - MIM#130050; Polymicrogyria with or without vascular-type EDS - #618343
Review for gene: COL3A1 was set to GREEN
Added comment: ClinGen validated gene-disease relationship with autosomal dominant vascular EDS

Also well-established phenotype with polymicrogyria with biallelic variants in COL3A1


AD - Ehlers Danlos vascular type
AR - Polymicrogyria with or without vascular type EDS
Sources: Expert list, Literature
Skeletal dysplasia v0.130 GNPNAT1 Zornitza Stark Phenotypes for gene: GNPNAT1 were changed from Rhizomelic skeletal dysplasia to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Skeletal dysplasia v0.129 GNPNAT1 Zornitza Stark edited their review of gene: GNPNAT1: Changed phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Mendeliome v0.9539 GNPNAT1 Zornitza Stark Phenotypes for gene: GNPNAT1 were changed from Rhizomelic skeletal dysplasia to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Mendeliome v0.9538 GNPNAT1 Zornitza Stark reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4230 GRIK2 Zornitza Stark Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; nonsyndromic neurodevelopmental disorder (NDD), autosomal dominant to Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580
Mendeliome v0.9538 CDH1 Krithika Murali gene: CDH1 was added
gene: CDH1 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDH1 were set to Blepharocheilodontic syndrome 1- MIM#119580; Cleft lip and palate
Review for gene: CDH1 was set to GREEN
Added comment: Well-established gene-disease association with blepharocheilodontic syndrome (BDC) and orofacial clefting.

Gene also associated with cancer predisposition - diffuse gastric cancer (juvenile onset reported) and lobular breast cancer.
Sources: Expert list, Literature
Genetic Epilepsy v0.1370 GRIK2 Zornitza Stark Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; nonsyndromic neurodevelopmental disorder (NDD) to Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580
Genetic Epilepsy v0.1369 GRIK2 Zornitza Stark reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9538 GRIK2 Zornitza Stark Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; Nonsyndromic neurodevelopmental disorder, autosomal dominant to Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580
Mendeliome v0.9537 GRIK2 Zornitza Stark reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9537 CACNA1C Krithika Murali gene: CACNA1C was added
gene: CACNA1C was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1C were set to Timothy syndrome - MIM# 601005; Neurodevelopmental abnormalities and epilepsy, no OMIM#; Long QT syndrome 8- MIM#618447
Review for gene: CACNA1C was set to GREEN
Added comment: Well-established gene-disease association with Timothy Syndrome

Rodan et al. (2021) reported 25 individuals from 22 families with heterozygous truncating and missense variants in CACNA1C. The individuals presented with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy BUT absence of classic features of Timothy syndrome or long QT syndrome.
Sources: Expert list, Literature
Mendeliome v0.9537 BRCA2 Krithika Murali gene: BRCA2 was added
gene: BRCA2 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1 - MIM# 605724
Review for gene: BRCA2 was set to GREEN
Added comment: Well-established gene disease association
Sources: Expert list, Literature
Skeletal dysplasia v0.129 BGN Krithika Murali gene: BGN was added
gene: BGN was added to Skeletal dysplasia. Sources: Expert list,Literature
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BGN were set to 27236923
Phenotypes for gene: BGN were set to Spondyloepimetaphyseal dysplasia, X-linked - MIM# 300106
Review for gene: BGN was set to GREEN
Added comment: Well-established gene-disease associated with X-linked spondyloepimetaphyseal dysplasia (SEMD)
Sources: Expert list, Literature
Mendeliome v0.9537 BGN Krithika Murali gene: BGN was added
gene: BGN was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: BGN was set to Other
Publications for gene: BGN were set to 27236923; 27632686
Phenotypes for gene: BGN were set to Meester-Loeys syndrome - #300989; Spondyloepimetaphyseal dysplasia, X-linked - #300106
Review for gene: BGN was set to GREEN
Added comment: Well-established gene-disease associated with X-linked spondyloepimetaphyseal dysplasia (SEMD) and Meester-Loeys syndrome (connective tissue disorder with phenotypic features including aortic dissection, aortic aneurysym, dysmorphism, joint hypermobility and mild skeletal dysplasia - with juvenile-onset reported in males)

SEMD - X-linked recessive inheritance
Meester-Loeys syndrome - hemizygous males, monoallelic mutations may cause disease in females (may be less severe, later onset than males)
Sources: Expert list, Literature
Mendeliome v0.9537 ATP13A2 Krithika Murali gene: ATP13A2 was added
gene: ATP13A2 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 1694263
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome - MIM#606693
Review for gene: ATP13A2 was set to GREEN
Added comment: Well-established gene-disease association with Kufor-Rakeb syndrome, a form of autosomal recessive hereditary parkinsonism and dementia showing juvenile onset, as well as neuronal ceroid lipofucinosis (NCL) features in some families. Also associated with adult-onset hereditary spastic paraparesis.
Sources: Expert list, Literature
Severe early-onset obesity v0.22 MC4R Ain Roesley reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: None; Publications: 12646665, 34238466, 32805220; Phenotypes: Obesity (BMIQ20) MIM#618406; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9537 ACTC1 Krithika Murali gene: ACTC1 was added
gene: ACTC1 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 26061005; 17947298; 31430208; 18403758; 30384889
Phenotypes for gene: ACTC1 were set to Atrial septal defect 5, MIM# 612794; Cardiomyopathy, dilated, 1R - MIM# 613424; Cardiomyopathy, hypertrophic, 11 - #612098
Review for gene: ACTC1 was set to GREEN
Added comment: Four families reported with congenital heart disease and variants in this gene. Note gene is also associated with cardiomyopathies, including paediatric-onset dilated and hypertrophic cardiomyopathy.
Sources: Expert list, Literature
Cholestasis v0.206 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Severe early-onset obesity v0.22 MYT1L Ain Roesley reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 33622623; Phenotypes: Intellectual disability and obesity (MIM#616521); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.22 NTRK2 Ain Roesley reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15494731, 27884935, 29100083; Phenotypes: Obesity, hyperphagia, and developmental delay MIM#613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.22 PCSK1 Ain Roesley reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30383237; Phenotypes: Obesity with impaired prohormone processing MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe early-onset obesity v0.22 PHF6 Ain Roesley reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32399860; Phenotypes: Borjeson-Forssman-Lehmann syndrome MIM#301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe early-onset obesity v0.22 POMC Ain Roesley reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33666293; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.22 SIM1 Ain Roesley reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33434169, 30926952, 23778136, 23778139; Phenotypes: congenital obesity, Prader-Willi-like syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.22 VPS13B Ain Roesley reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30473963; Phenotypes: Cohen syndrome MIM#216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9537 CEP19 Zornitza Stark Marked gene: CEP19 as ready
Mendeliome v0.9537 CEP19 Zornitza Stark Gene: cep19 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9537 CEP19 Zornitza Stark Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure MIM#615703 to Morbid obesity and spermatogenic failure MIM#615703; Bardet-Biedl syndorme
Mendeliome v0.9536 CEP19 Zornitza Stark edited their review of gene: CEP19: Changed rating: AMBER
Severe early-onset obesity v0.22 CEP19 Zornitza Stark Marked gene: CEP19 as ready
Severe early-onset obesity v0.22 CEP19 Zornitza Stark Gene: cep19 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.22 CEP19 Zornitza Stark Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure, OMIM:615703 to Morbid obesity and spermatogenic failure, OMIM:615703; Bardet Biedl syndrome
Severe early-onset obesity v0.21 CEP19 Zornitza Stark Classified gene: CEP19 as Amber List (moderate evidence)
Severe early-onset obesity v0.21 CEP19 Zornitza Stark Gene: cep19 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.20 CEP19 Zornitza Stark reviewed gene: CEP19: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Morbid obesity and spermatogenic failure, MIM# 615703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.20 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Severe early-onset obesity v0.20 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.20 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, OMIM:615986; Obesity to Bardet-Biedl syndrome 9, MIM#615986
Severe early-onset obesity v0.19 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Severe early-onset obesity v0.18 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Severe early-onset obesity v0.18 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.18 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Obesity; Bardet-Biedl syndrome 7, OMIM:615984 to Bardet-Biedl syndrome 7, MIM# 615984
Severe early-onset obesity v0.17 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Severe early-onset obesity v0.16 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Severe early-onset obesity v0.16 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.16 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from Obesity; Bardet-Biedl syndrome 5, OMIM:615983 to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Severe early-onset obesity v0.15 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Severe early-onset obesity v0.14 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Severe early-onset obesity v0.14 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.14 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from Obesity; Bardet-Biedl syndrome 4, OMIM:615982 to Bardet-Biedl syndrome 4, MIM#615982
Severe early-onset obesity v0.13 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Severe early-onset obesity v0.12 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Severe early-onset obesity v0.12 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.12 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from Obesity; Bardet-Biedl syndrome 2, OMIM:615981 to Bardet-Biedl syndrome 2, MIM# 615981
Severe early-onset obesity v0.11 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Severe early-onset obesity v0.10 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Severe early-onset obesity v0.10 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.10 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from obesity; Bardet-Biedl syndrome 12, OMIM:615989 to Bardet-Biedl syndrome 12, MIM# 615989
Severe early-onset obesity v0.9 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Severe early-onset obesity v0.8 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Severe early-onset obesity v0.8 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.8 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from obesity; Bardet-Biedl syndrome 10, OMIM:615987 to Bardet-Biedl syndrome 10, MIM# 615987
Severe early-onset obesity v0.7 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Severe early-onset obesity v0.6 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Severe early-onset obesity v0.6 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.6 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854 to Bardet-Biedl syndrome 1 OMIM:209900; MONDO:0008854
Severe early-onset obesity v0.5 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Severe early-onset obesity v0.4 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Severe early-onset obesity v0.4 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.4 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from Obesity; Bardet-Biedl syndrome 3, OMIM:600151 to Bardet-Biedl syndrome 3, MIM# 600151
Severe early-onset obesity v0.3 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Severe early-onset obesity v0.2 ARL6 Zornitza Stark changed review comment from: Multiple families reported and functional data.; to: Multiple families reported and functional data. Obesity is a feature.
Severe early-onset obesity v0.2 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Severe early-onset obesity v0.2 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.2 ALMS1 Zornitza Stark changed review comment from: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism; to: Clinical features include: retinitis pigmentosa, deafness, obesity, and diabetes mellitus.
Severe early-onset obesity v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: WDPCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDPCP were set to 26518167
Phenotypes for gene: WDPCP were set to Congenital Obesity
Severe early-onset obesity v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to ?Bardet-Biedl syndrome 11; 615988
Severe early-onset obesity v0.0 PPARG Zornitza Stark gene: PPARG was added
gene: PPARG was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPARG were set to [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338
Severe early-onset obesity v0.0 NR0B2 Zornitza Stark gene: NR0B2 was added
gene: NR0B2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: NR0B2 was set to
Phenotypes for gene: NR0B2 were set to Congenital Obesity; Obesity, mild, early-onset, 601665
Severe early-onset obesity v0.0 MRAP2 Zornitza Stark gene: MRAP2 was added
gene: MRAP2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: MRAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MRAP2 were set to 26795956 - a rare nonsynonymous variant, p.A40S, was detected in the MRAP2 gene in a 10-year old boy with overall obesity in combination with intellectual disability in a screen of Prader-Willi syndrome (PWS) patients. The clinically diagnosed PWS could not be confirmed molecularly with MS-MLPA and CNV analysis of the 6q14.1 q16.3 region also showed no deletions in this patient. No further family data were available to determine whether the variant segregates with obesity in this family. It was shown to be (probably) damaging by in silico analysis and found in only one European (non-Finnish) individual in the ExAC database (since this database cannot release phenotype information about the screened individuals, no conclusions regarding causality of this variant can be drawn).; 27474872 - screened the entire coding region of MRAP2 for mutations in 184 children and adolescents with extreme obesity and 184 healthy lean controls. Nonsynonymous variants were then genotyped in a larger, independent study group of 300 children and adolescents with extreme obesity and 436 controls. Detected variants were also analyzed in vitro to determine their effects on MC4R signaling: p.Gln174Arg was the only variant to show an effect by reducing MC4R signalling function. Heterozygous variants were described in 4 individuals. For only two (p.Ala137Thr and p.Arg125His) were relatives also available, and the mothers of the probands were also heterozygous and had not/did not display an obesity phenotype. "In sum, our family-based genetic data do not support the relevance of the two presumably benign MRAP2 mutations for the development of obesity, they might even have no influence on body weight regulation...additional functional analyses could well reveal a functional effect of all nonsynonymous MRAP2 mutations." "We detected association of nonsynonymous MRAP2 mutations to obesity (eight carriers of nonsynonymous mutations in 1,334 individuals with obesity vs. zero carriers of nonsynonymous mutations in 1,108 controls, nominal Fisher exact two-sided P<0.005) in a crude meta-analysis on all currently available data."; 23869016 - sequenced the coding region and intron/exon boundaries of MRAP2 in obese and control individuals from the Genetics of Obesity Study (GOOS) cohort and the Swedish obese children s cohort. They describe identifying 4 heterozygous variants in 4 individuals with severe obesity, of which only one was predicted to be damaging (E24X)
Phenotypes for gene: MRAP2 were set to Prader-Willi syndrome; obesity; {?Obesity, susceptibility to, BMIQ18}
Severe early-onset obesity v0.0 MAGEL2 Zornitza Stark gene: MAGEL2 was added
gene: MAGEL2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: MAGEL2 was set to
Phenotypes for gene: MAGEL2 were set to Congenital Obesity
Severe early-onset obesity v0.0 AKR1C2 Zornitza Stark gene: AKR1C2 was added
gene: AKR1C2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: AKR1C2 was set to
Phenotypes for gene: AKR1C2 were set to Obesity, hyperphagia, and developmental delay
Severe early-onset obesity v0.0 TUB Zornitza Stark gene: TUB was added
gene: TUB was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: TUB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUB were set to 16443771; 22618246; 24375934; 18619628; 12076089; 16643894; 8612280; 10629044; 19885003; 10196693; 22492381; 17955208 (candidate for late-onset obesity); 18183286
Phenotypes for gene: TUB were set to ?Retinal dystrophy and obesity, OMIM:616188
Severe early-onset obesity v0.0 SH2B1 Zornitza Stark gene: SH2B1 was added
gene: SH2B1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: SH2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SH2B1 were set to 24971614; 28663568; 23160192; 20808231
Phenotypes for gene: SH2B1 were set to Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994; obesity
Severe early-onset obesity v0.0 PHIP Zornitza Stark gene: PHIP was added
gene: PHIP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHIP were set to 27900362; 31167805; 32492392; 29209020; 33867250
Phenotypes for gene: PHIP were set to dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability
Severe early-onset obesity v0.0 PGM2L1 Zornitza Stark gene: PGM2L1 was added
gene: PGM2L1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM2L1 were set to 33979636
Phenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder
Severe early-onset obesity v0.0 KSR2 Zornitza Stark gene: KSR2 was added
gene: KSR2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: KSR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KSR2 were set to 29273807
Phenotypes for gene: KSR2 were set to obesity
Severe early-onset obesity v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5E were set to 31173343; 19668215
Phenotypes for gene: INPP5E were set to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
Severe early-onset obesity v0.0 CPE Zornitza Stark gene: CPE was added
gene: CPE was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766
Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326
Severe early-onset obesity v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP290 were set to 18327255; 23943788
Phenotypes for gene: CEP290 were set to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991
Severe early-onset obesity v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Obesity; Cohen syndrome, OMIM:216550
Severe early-onset obesity v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Obesity; Bardet-Biedl syndrome 8, OMIM:615985
Severe early-onset obesity v0.0 SIM1 Zornitza Stark gene: SIM1 was added
gene: SIM1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIM1 were set to 24097297; 25805767; 24260538; 23778136; 16924270; 23778139; 24814368
Phenotypes for gene: SIM1 were set to obesity; Congenital Obesity
Severe early-onset obesity v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Obesity; Bardet-Biedl syndrome 16, OMIM:615993
Severe early-onset obesity v0.0 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to {Obesity, early-onset, susceptibility to}, OMIM:601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734
Severe early-onset obesity v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,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, OMIM:301900
Severe early-onset obesity v0.0 PCSK1 Zornitza Stark gene: PCSK1 was added
gene: PCSK1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,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; {Obesity, susceptibility to, BMIQ12}, OMIM:612362
Severe early-onset obesity v0.0 NTRK2 Zornitza Stark gene: NTRK2 was added
gene: NTRK2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTRK2 were set to 27884935; 29100083; 24950379; 16702999; 26629410; 26727462; 15494731
Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, OMIM:613886
Severe early-onset obesity v0.0 MYT1L Zornitza Stark gene: MYT1L was added
gene: MYT1L was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYT1L were set to 25232846; 21990140; 25126114; 26240977; 24129437
Phenotypes for gene: MYT1L were set to obesity; Mental retardation, autosomal dominant 39, OMIM:616521
Severe early-onset obesity v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Obesity; Bardet-Biedl syndrome 13, OMIM:615990
Severe early-onset obesity v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, OMIM:605231; Obesity
Severe early-onset obesity v0.0 MC4R Zornitza Stark gene: MC4R was added
gene: MC4R was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MC4R was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MC4R were set to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306
Severe early-onset obesity v0.0 LEPR Zornitza Stark gene: LEPR was added
gene: LEPR was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581
Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Severe early-onset obesity v0.0 LEP Zornitza Stark gene: LEP was added
gene: LEP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,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, OMIM:614962
Severe early-onset obesity v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: GNAS were set to 28663568; 28453643; 27991864
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic, OMIM:612462; Pseudohypoparathyroidism Ia, OMIM:103580; Congenital Obesity; Pseudohypoparathyroidism Ib, OMIM:603233
Severe early-onset obesity v0.0 CEP19 Zornitza Stark gene: CEP19 was added
gene: CEP19 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP19 were set to 24268657; 29127258
Phenotypes for gene: CEP19 were set to Morbid obesity and spermatogenic failure, OMIM:615703
Severe early-onset obesity v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, OMIM:615986; Obesity
Severe early-onset obesity v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Obesity; Bardet-Biedl syndrome 7, OMIM:615984
Severe early-onset obesity v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Obesity; Bardet-Biedl syndrome 5, OMIM:615983
Severe early-onset obesity v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Obesity; Bardet-Biedl syndrome 4, OMIM:615982
Severe early-onset obesity v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Obesity; Bardet-Biedl syndrome 2, OMIM:615981
Severe early-onset obesity v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to obesity; Bardet-Biedl syndrome 12, OMIM:615989
Severe early-onset obesity v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to obesity; Bardet-Biedl syndrome 10, OMIM:615987
Severe early-onset obesity v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Severe early-onset obesity v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Obesity; Bardet-Biedl syndrome 3, OMIM:600151
Severe early-onset obesity v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome, OMIM:203800
Severe early-onset obesity v0.0 Zornitza Stark Added panel Severe early-onset obesity
Cardiomyopathy_Paediatric v0.110 COA5 Zornitza Stark Marked gene: COA5 as ready
Cardiomyopathy_Paediatric v0.110 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.110 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial complex IV deficiency, 220110; syndromic HCM; Isolated complex IV deficiency; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500
Cardiomyopathy_Paediatric v0.109 COA5 Zornitza Stark Classified gene: COA5 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.109 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.108 COA5 Zornitza Stark reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9536 MUC5B Zornitza Stark Marked gene: MUC5B as ready
Mendeliome v0.9536 MUC5B Zornitza Stark Gene: muc5b has been classified as Red List (Low Evidence).
Mendeliome v0.9536 MUC5B Zornitza Stark Phenotypes for gene: MUC5B were changed from to {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500
Mendeliome v0.9535 MUC5B Zornitza Stark Publications for gene: MUC5B were set to
Mendeliome v0.9534 MUC5B Zornitza Stark Mode of inheritance for gene: MUC5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9533 MUC5B Zornitza Stark Classified gene: MUC5B as Red List (low evidence)
Mendeliome v0.9533 MUC5B Zornitza Stark Gene: muc5b has been classified as Red List (Low Evidence).
Mendeliome v0.9532 MUC5B Zornitza Stark Tag 5'UTR tag was added to gene: MUC5B.
Mendeliome v0.9532 MUC5B Zornitza Stark reviewed gene: MUC5B: Rating: RED; Mode of pathogenicity: None; Publications: 21506741, 21506748; Phenotypes: {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.84 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Fetal anomalies v0.84 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.84 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; CUTIS LAXA, AUTOSOMAL DOMINANT 3 to Cutis laxa, autosomal dominant 3, MIM# 616603; Cutis laxa, autosomal recessive, type IIIA, MIM# 219150
Fetal anomalies v0.83 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to
Fetal anomalies v0.82 ALDH18A1 Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.81 ALDH18A1 Zornitza Stark edited their review of gene: ALDH18A1: Changed publications: 30071989, 26320891, 24913064, 18478038, 21739576, 22411858, 28228640
Fetal anomalies v0.81 ALDH18A1 Zornitza Stark reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal dominant 3, MIM# 616603, Cutis laxa, autosomal recessive, type IIIA, MIM# 219150; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.92 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Macrocephaly_Megalencephaly v0.92 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.92 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Macrocephaly_Megalencephaly v0.91 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Macrocephaly_Megalencephaly v0.90 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.89 AKT3 Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.103 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Hydrocephalus_Ventriculomegaly v0.103 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.103 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Hydrocephalus_Ventriculomegaly v0.102 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Hydrocephalus_Ventriculomegaly v0.101 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.100 AKT3 Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.81 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Fetal anomalies v0.81 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Fetal anomalies v0.81 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from HEMIMEGALENCEPHALY AKT3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Fetal anomalies v0.80 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Fetal anomalies v0.79 AKT1 Zornitza Stark Publications for gene: AKT1 were set to 33030203l23246288; 21793738
Fetal anomalies v0.78 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Fetal anomalies v0.78 AKT1 Zornitza Stark Gene: akt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.78 AKT1 Zornitza Stark Phenotypes for gene: AKT1 were changed from PROTEUS SYNDROME to Cowden syndrome 6, MIM#615109; Proteus syndrome, somatic, MIM# 176920
Fetal anomalies v0.77 AKT1 Zornitza Stark Publications for gene: AKT1 were set to 33030203
Fetal anomalies v0.76 AKT1 Zornitza Stark Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.75 AKT1 Zornitza Stark Mode of inheritance for gene: AKT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.74 AKT1 Zornitza Stark reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23246288, 21793738; Phenotypes: Cowden syndrome 6, MIM#615109, Proteus syndrome, somatic, MIM# 176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.74 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Fetal anomalies v0.74 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Fetal anomalies v0.74 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from JOUBERT SYNDROME to Joubert syndrome 3, MIM# 608629
Fetal anomalies v0.73 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Intellectual disability syndromic and non-syndromic v0.4229 AHDC1 Zornitza Stark Marked gene: AHDC1 as ready
Intellectual disability syndromic and non-syndromic v0.4229 AHDC1 Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4229 AHDC1 Zornitza Stark Phenotypes for gene: AHDC1 were changed from to Xia-Gibbs syndrome, MIM# 615829; AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358
Intellectual disability syndromic and non-syndromic v0.4228 AHDC1 Zornitza Stark Publications for gene: AHDC1 were set to
Intellectual disability syndromic and non-syndromic v0.4227 AHDC1 Zornitza Stark Mode of inheritance for gene: AHDC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4226 AHDC1 Zornitza Stark reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24791903, 27148574, 30152016; Phenotypes: Xia-Gibbs syndrome, MIM# 615829, AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9532 AHDC1 Zornitza Stark Marked gene: AHDC1 as ready
Mendeliome v0.9532 AHDC1 Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence).
Mendeliome v0.9532 AHDC1 Zornitza Stark Phenotypes for gene: AHDC1 were changed from to Xia-Gibbs syndrome, MIM# 615829; AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358
Mendeliome v0.9531 AHDC1 Zornitza Stark Publications for gene: AHDC1 were set to
Mendeliome v0.9530 AHDC1 Zornitza Stark Mode of inheritance for gene: AHDC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9529 AHDC1 Zornitza Stark reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24791903, 27148574, 30152016; Phenotypes: Xia-Gibbs syndrome, MIM# 615829, AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.72 AHDC1 Zornitza Stark Phenotypes for gene: AHDC1 were changed from Xia-Gibbs syndrome, MIM# 615829 to Xia-Gibbs syndrome, MIM# 615829; AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358
Fetal anomalies v0.71 AHDC1 Zornitza Stark Marked gene: AHDC1 as ready
Fetal anomalies v0.71 AHDC1 Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.71 AHDC1 Zornitza Stark Phenotypes for gene: AHDC1 were changed from XIA-GIBBS SYNDROME to Xia-Gibbs syndrome, MIM# 615829
Fetal anomalies v0.70 AHDC1 Zornitza Stark Publications for gene: AHDC1 were set to
Fetal anomalies v0.69 AHDC1 Zornitza Stark Mode of inheritance for gene: AHDC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.68 AHDC1 Zornitza Stark reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24791903, 27148574, 30152016; Phenotypes: Xia-Gibbs syndrome, MIM# 615829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.68 AGTR1 Zornitza Stark Marked gene: AGTR1 as ready
Fetal anomalies v0.68 AGTR1 Zornitza Stark Gene: agtr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.68 AGTR1 Zornitza Stark Classified gene: AGTR1 as Green List (high evidence)
Fetal anomalies v0.68 AGTR1 Zornitza Stark Gene: agtr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.67 AGTR1 Zornitza Stark edited their review of gene: AGTR1: Changed rating: GREEN
Fetal anomalies v0.67 AGTR1 Zornitza Stark gene: AGTR1 was added
gene: AGTR1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTR1 were set to 16116425
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, MIM# 267430
Added comment: Three unrelated families reported. Severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects.
Sources: Expert Review
Mendeliome v0.9529 AGTR1 Zornitza Stark Marked gene: AGTR1 as ready
Mendeliome v0.9529 AGTR1 Zornitza Stark Gene: agtr1 has been classified as Green List (High Evidence).
Mendeliome v0.9529 AGTR1 Zornitza Stark Phenotypes for gene: AGTR1 were changed from to Renal tubular dysgenesis, MIM# 267430
Mendeliome v0.9528 AGTR1 Zornitza Stark Publications for gene: AGTR1 were set to
Mendeliome v0.9527 AGTR1 Zornitza Stark Mode of inheritance for gene: AGTR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9526 AGTR1 Zornitza Stark reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.66 AGT Zornitza Stark Marked gene: AGT as ready
Fetal anomalies v0.66 AGT Zornitza Stark Gene: agt has been classified as Green List (High Evidence).
Fetal anomalies v0.66 AGT Zornitza Stark Classified gene: AGT as Green List (high evidence)
Fetal anomalies v0.66 AGT Zornitza Stark Gene: agt has been classified as Green List (High Evidence).
Fetal anomalies v0.65 AGT Zornitza Stark gene: AGT was added
gene: AGT was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGT were set to 16116425; 34234805; 33163725
Phenotypes for gene: AGT were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: AGT was set to GREEN
Added comment: Well established gene-disease association, more than 10 unrelated families reported. Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.
Sources: Expert Review
Mendeliome v0.9526 AGT Zornitza Stark Marked gene: AGT as ready
Mendeliome v0.9526 AGT Zornitza Stark Gene: agt has been classified as Green List (High Evidence).
Mendeliome v0.9526 AGT Zornitza Stark Phenotypes for gene: AGT were changed from to Renal tubular dysgenesis, MIM# 267430
Mendeliome v0.9525 AGT Zornitza Stark Publications for gene: AGT were set to
Mendeliome v0.9524 AGT Zornitza Stark Mode of inheritance for gene: AGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9523 AGT Zornitza Stark reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 34234805, 33163725; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9523 PANK4 Zornitza Stark Phenotypes for gene: PANK4 were changed from Congenital posterior cataract to Cataract 49, MIM# 619593; Congenital posterior cataract
Mendeliome v0.9522 PANK4 Zornitza Stark edited their review of gene: PANK4: Changed phenotypes: Cataract 49, MIM# 619593, Congenital posterior cataract
Cataract v0.292 PANK4 Zornitza Stark Phenotypes for gene: PANK4 were changed from Congenital posterior cataract to Cataract 49, MIM# 619593; Congenital posterior cataract
Cataract v0.291 PANK4 Zornitza Stark edited their review of gene: PANK4: Changed phenotypes: Cataract 49, MIM# 619593, Congenital posterior cataract
Fetal anomalies v0.64 AGK Zornitza Stark Marked gene: AGK as ready
Fetal anomalies v0.64 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Fetal anomalies v0.64 AGK Zornitza Stark Phenotypes for gene: AGK were changed from SENGERS SYNDROME to Sengers syndrome, MIM#212350
Fetal anomalies v0.63 AGK Zornitza Stark changed review comment from: Cognition is reported to be normal in this mitochondrial condition.; to: Severe perinatal disorder, including HCM.
Fetal anomalies v0.63 AGK Zornitza Stark edited their review of gene: AGK: Changed rating: GREEN
Fetal anomalies v0.63 AFF4 Zornitza Stark Marked gene: AFF4 as ready
Fetal anomalies v0.63 AFF4 Zornitza Stark Gene: aff4 has been classified as Green List (High Evidence).
Fetal anomalies v0.63 AFF4 Zornitza Stark Phenotypes for gene: AFF4 were changed from CORNELIA DE LANGE-LIKE SYNDROME to CHOPS syndrome, MIM#616368; MONDO:0014609
Fetal anomalies v0.62 AFF4 Zornitza Stark Publications for gene: AFF4 were set to
Fetal anomalies v0.61 AFF4 Zornitza Stark Mode of pathogenicity for gene: AFF4 was changed from to Other
Fetal anomalies v0.60 AFF4 Zornitza Stark Mode of inheritance for gene: AFF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.59 ADNP Zornitza Stark Marked gene: ADNP as ready
Fetal anomalies v0.59 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Fetal anomalies v0.59 ADNP Zornitza Stark Phenotypes for gene: ADNP were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379
Fetal anomalies v0.58 ADNP Zornitza Stark Publications for gene: ADNP were set to
Fetal anomalies v0.57 ADNP Zornitza Stark Mode of inheritance for gene: ADNP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.56 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Fetal anomalies v0.56 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Fetal anomalies v0.56 ADGRG6 Zornitza Stark Phenotypes for gene: ADGRG6 were changed from LETHAL CONGENITAL CONTRACTURE SYNDROME 9 to Lethal congenital contracture syndrome 9; OMIM #616503
Fetal anomalies v0.55 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to
Fetal anomalies v0.54 ADGRG6 Zornitza Stark changed review comment from: Three other families reported but with severe prenatal onset arthrogryposis, unclear if CNS features.; to: Three other families reported but with severe prenatal onset arthrogryposis.
Fetal anomalies v0.54 ADGRG6 Zornitza Stark edited their review of gene: ADGRG6: Changed rating: GREEN
Fetal anomalies v0.54 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Fetal anomalies v0.54 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.54 ADGRG1 Zornitza Stark Tag SV/CNV tag was added to gene: ADGRG1.
Tag 5'UTR tag was added to gene: ADGRG1.
Fetal anomalies v0.54 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to 16240336; 33299078
Fetal anomalies v0.53 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from POLYMICROGYRIA to Polymicrogyria, bilateral frontoparietal, MIM#606854
Fetal anomalies v0.52 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to
Fetal anomalies v0.50 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Fetal anomalies v0.50 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Fetal anomalies v0.50 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 231050 to Geleophysic dysplasia 1, MIM#231050
Fetal anomalies v0.49 ADAMTSL2 Zornitza Stark Publications for gene: ADAMTSL2 were set to
Fetal anomalies v0.48 ADAMTSL2 Zornitza Stark edited their review of gene: ADAMTSL2: Changed publications: 21415077
Fetal anomalies v0.48 ADAMTSL2 Zornitza Stark changed review comment from: Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; however, theres is little evidence of intellectual disability in this disorder.; to: Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; perinatal presentation with skeletal and heart features reported. Multiple families reported.
Fetal anomalies v0.48 ADAMTSL2 Zornitza Stark edited their review of gene: ADAMTSL2: Changed rating: GREEN
Cataract v0.291 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Cataract v0.291 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Cataract v0.291 ADAMTS17 Zornitza Stark Classified gene: ADAMTS17 as Green List (high evidence)
Cataract v0.291 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Cataract v0.290 ADAMTS17 Zornitza Stark gene: ADAMTS17 was added
gene: ADAMTS17 was added to Cataract. Sources: Expert Review
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Review for gene: ADAMTS17 was set to GREEN
Added comment: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present. At least 3 unrelated families reported.
Sources: Expert Review
Mendeliome v0.9522 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Mendeliome v0.9522 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Mendeliome v0.9522 ADAMTS17 Zornitza Stark Phenotypes for gene: ADAMTS17 were changed from to Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Mendeliome v0.9521 ADAMTS17 Zornitza Stark Publications for gene: ADAMTS17 were set to
Mendeliome v0.9520 ADAMTS17 Zornitza Stark Mode of inheritance for gene: ADAMTS17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9519 ADAMTS17 Zornitza Stark reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19836009, 22486325, 24940034, 30712880; Phenotypes: Weill-Marchesani 4 syndrome, recessive, MIM# 613195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.48 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Fetal anomalies v0.48 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Fetal anomalies v0.48 ADAMTS17 Zornitza Stark reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19836009, 22486325, 24940034; Phenotypes: Weill-Marchesani 4 syndrome, recessive, MIM# 613195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.48 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Fetal anomalies v0.48 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Fetal anomalies v0.48 ADAMTS10 Zornitza Stark Phenotypes for gene: ADAMTS10 were changed from Weill-Marchesani syndrome 1, recessive 277600 to Weill-Marchesani syndrome 1, recessive, MIM#277600
Fetal anomalies v0.47 ADAMTS10 Zornitza Stark Publications for gene: ADAMTS10 were set to
Fetal anomalies v0.46 ADAMTS10 Zornitza Stark changed review comment from: Mild intellectual disability is described in around 10% of affected individuals.; to: Associated with congenital anomalies.
Intellectual disability syndromic and non-syndromic v0.4226 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Intellectual disability syndromic and non-syndromic v0.4226 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4226 ACY1 Zornitza Stark Phenotypes for gene: ACY1 were changed from to Aminoacylase 1 deficiency, MIM# 609924
Intellectual disability syndromic and non-syndromic v0.4225 ACY1 Zornitza Stark Publications for gene: ACY1 were set to
Intellectual disability syndromic and non-syndromic v0.4224 ACY1 Zornitza Stark Mode of inheritance for gene: ACY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4223 ACY1 Zornitza Stark reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16274666, 16465618, 17562838, 24117009; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.104 ACY1 Zornitza Stark gene: ACY1 was added
gene: ACY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 16274666; 16465618; 17562838; 24117009
Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency, MIM# 609924
Review for gene: ACY1 was set to GREEN
Added comment: Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Sources: Expert Review
Mendeliome v0.9519 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Mendeliome v0.9519 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Mendeliome v0.9519 ACY1 Zornitza Stark Phenotypes for gene: ACY1 were changed from to Aminoacylase 1 deficiency, MIM# 609924
Mendeliome v0.9518 ACY1 Zornitza Stark Publications for gene: ACY1 were set to
Mendeliome v0.9517 ACY1 Zornitza Stark Mode of inheritance for gene: ACY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9516 ACY1 Zornitza Stark reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16274666, 16465618, 17562838, 24117009; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.46 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Fetal anomalies v0.46 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Fetal anomalies v0.46 ACY1 Zornitza Stark Phenotypes for gene: ACY1 were changed from AMINOACYLASE-1 DEFICIENCY to Aminoacylase 1 deficiency, MIM# 609924
Fetal anomalies v0.45 ACY1 Zornitza Stark reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.45 ACVR2B Zornitza Stark Marked gene: ACVR2B as ready
Fetal anomalies v0.45 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Fetal anomalies v0.45 ACVR2B Zornitza Stark Phenotypes for gene: ACVR2B were changed from Heterotaxy; Dextrocardia; polysplenia; Gut malrotation; Double outlet right ventricle; Transposition of the great arteries; asplenia; right-sided spleen to Heterotaxy, visceral, 4, autosomal 613751
Fetal anomalies v0.44 ACVR2B Zornitza Stark Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489
Fetal anomalies v0.43 ACVR2B Zornitza Stark Classified gene: ACVR2B as Red List (low evidence)
Fetal anomalies v0.43 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Fetal anomalies v0.40 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Fetal anomalies v0.40 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Fetal anomalies v0.40 ACTG2 Zornitza Stark Phenotypes for gene: ACTG2 were changed from Fetal Megacystis; Visceral myopathy 155310 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Fetal anomalies v0.39 ACTG2 Zornitza Stark Mode of inheritance for gene: ACTG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.38 ACTG2 Zornitza Stark reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24676022, 26647307; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.38 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Fetal anomalies v0.38 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.38 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from BARAITSER-WINTER SYNDROME to Baraitser-Winter syndrome 2, MIM#614583
Fetal anomalies v0.37 ACTG1 Zornitza Stark Mode of inheritance for gene: ACTG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.36 ACTG1 Zornitza Stark changed review comment from: Microphthalmia and coloboma are part of the phenotype.
Sources: Expert list; to: Syndromic disorder, associated with multiple congenital abnormalities, including microphthalmia.

Sources: Expert list
Fetal anomalies v0.36 ACTC1 Zornitza Stark changed review comment from: Well established association with cardiomyopathies. Three families reported with ASD.; to: Well established association with cardiomyopathies. Four families reported with ASD.
Fetal anomalies v0.36 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Fetal anomalies v0.36 ACTC1 Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.36 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from Atrial septal defect 5 612794 to Atrial septal defect 5 612794; Cardiomyopathy, hypertrophic, 11 612098
Fetal anomalies v0.35 ACTC1 Zornitza Stark Publications for gene: ACTC1 were set to 24461919
Fetal anomalies v0.34 ACTC1 Zornitza Stark Mode of inheritance for gene: ACTC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.33 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31430208, 17947298; Phenotypes: Cardiomyopathy, hypertrophic, 11 612098, Atrial septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.33 ACTB Zornitza Stark changed review comment from: Iris coloboma is part of the phenotype.
Sources: Expert list; to: Severe perinatal disorder, multiple congenital anomalies associated.
Sources: Expert list
Fetal anomalies v0.33 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Fetal anomalies v0.33 ACTA1 Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence).
Fetal anomalies v0.33 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 to Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Nemaline myopathy 3, MIM#161800; Myopathy, actin, congenital, with cores, MIM#161800
Fetal anomalies v0.32 ACTA1 Zornitza Stark Deleted their comment
Fetal anomalies v0.32 ACTA1 Zornitza Stark edited their review of gene: ACTA1: Added comment: Severe perinatal neuromuscular disorders.; Changed rating: GREEN
Fetal anomalies v0.32 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Fetal anomalies v0.32 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Fetal anomalies v0.32 ACOX1 Zornitza Stark Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470; ADRENOLEUKODYSTROPHY PSEUDONEONATAL to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
Fetal anomalies v0.31 ACOX1 Zornitza Stark reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9516 ACE Zornitza Stark Marked gene: ACE as ready
Mendeliome v0.9516 ACE Zornitza Stark Gene: ace has been classified as Green List (High Evidence).
Mendeliome v0.9516 ACE Zornitza Stark Phenotypes for gene: ACE were changed from to Renal tubular dysgenesis, MIM# 267430
Mendeliome v0.9515 ACE Zornitza Stark Publications for gene: ACE were set to
Mendeliome v0.9514 ACE Zornitza Stark Mode of inheritance for gene: ACE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9513 ACE Zornitza Stark reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.31 ACE Zornitza Stark Marked gene: ACE as ready
Fetal anomalies v0.31 ACE Zornitza Stark Gene: ace has been classified as Green List (High Evidence).
Fetal anomalies v0.31 ACE Zornitza Stark Phenotypes for gene: ACE were changed from Renal tubular dysgenesis 267430 to Renal tubular dysgenesis, MIM# 267430
Fetal anomalies v0.30 ACE Zornitza Stark Publications for gene: ACE were set to 30058238
Fetal anomalies v0.29 ACE Zornitza Stark reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9513 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Mendeliome v0.9513 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Mendeliome v0.9513 ACADVL Zornitza Stark Phenotypes for gene: ACADVL were changed from to VLCAD deficiency, MIM# 201475
Mendeliome v0.9512 ACADVL Zornitza Stark Mode of inheritance for gene: ACADVL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9511 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.29 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Fetal anomalies v0.29 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Fetal anomalies v0.29 ACADVL Zornitza Stark Phenotypes for gene: ACADVL were changed from VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY to VLCAD deficiency, MIM# 201475
Fetal anomalies v0.28 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital nystagmus v1.0 Zornitza Stark promoted panel to version 1.0
Congenital nystagmus v0.168 MITF Zornitza Stark Marked gene: MITF as ready
Congenital nystagmus v0.168 MITF Zornitza Stark Gene: mitf has been classified as Red List (Low Evidence).
Congenital nystagmus v0.168 MITF Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470 to Tietz albinism-deafness syndrome 103500
Congenital nystagmus v0.167 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.166 MITF Zornitza Stark reviewed gene: MITF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tietz albinism-deafness syndrome 103500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.166 ITM2B Zornitza Stark Marked gene: ITM2B as ready
Congenital nystagmus v0.166 ITM2B Zornitza Stark Gene: itm2b has been classified as Red List (Low Evidence).
Congenital nystagmus v0.166 ITM2B Zornitza Stark Phenotypes for gene: ITM2B were changed from ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 to Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079
Congenital nystagmus v0.165 ITM2B Zornitza Stark Publications for gene: ITM2B were set to
Congenital nystagmus v0.164 ITM2B Zornitza Stark reviewed gene: ITM2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital nystagmus v0.164 GNAI3 Zornitza Stark Marked gene: GNAI3 as ready
Congenital nystagmus v0.164 GNAI3 Zornitza Stark Gene: gnai3 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.164 GNAI3 Zornitza Stark Phenotypes for gene: GNAI3 were changed from Auriculocondylar syndrome 1 602483; Ocular Albinism to Ocular albinism
Congenital nystagmus v0.163 GNAI3 Zornitza Stark Mode of inheritance for gene: GNAI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.162 GNAI3 Zornitza Stark reviewed gene: GNAI3: Rating: RED; Mode of pathogenicity: None; Publications: 27607449; Phenotypes: Ocular albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.162 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Congenital nystagmus v0.162 DGUOK Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence).
Congenital nystagmus v0.162 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Congenital nystagmus v0.161 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4223 TFE3 Zornitza Stark Phenotypes for gene: TFE3 were changed from TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066; Intellectual disability; Epilepsy; Coarse facial features
Intellectual disability syndromic and non-syndromic v0.4222 TFE3 Zornitza Stark edited their review of gene: TFE3: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066, Intellectual disability, Epilepsy, Coarse facial features
Genetic Epilepsy v0.1369 TFE3 Zornitza Stark Phenotypes for gene: TFE3 were changed from TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066; Intellectual disability; Epilepsy; Coarse facial features
Genetic Epilepsy v0.1368 TFE3 Zornitza Stark edited their review of gene: TFE3: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066, Intellectual disability, Epilepsy, Coarse facial features
Mendeliome v0.9511 TFE3 Zornitza Stark Phenotypes for gene: TFE3 were changed from TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066; Intellectual disability; Epilepsy; Coarse facial features
Mendeliome v0.9510 TFE3 Zornitza Stark edited their review of gene: TFE3: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066, Intellectual disability, Epilepsy, Coarse facial features
Mendeliome v0.9510 FAN1 Zornitza Stark Marked gene: FAN1 as ready
Mendeliome v0.9510 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Mendeliome v0.9510 FAN1 Zornitza Stark Phenotypes for gene: FAN1 were changed from to Interstitial nephritis, karyomegalic, MIM# 614817
Renal Tubulointerstitial Disease v1.2 FAN1 Zornitza Stark Publications for gene: FAN1 were set to
Renal Tubulointerstitial Disease v1.1 FAN1 Zornitza Stark Mode of inheritance for gene: FAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9509 FAN1 Zornitza Stark Publications for gene: FAN1 were set to
Renal Tubulointerstitial Disease v1.0 FAN1 Zornitza Stark edited their review of gene: FAN1: Changed publications: 22772369, 16678356, 7847351, 8546134
Mendeliome v0.9508 FAN1 Zornitza Stark Mode of inheritance for gene: FAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Tubulointerstitial Disease v1.0 FAN1 Zornitza Stark edited their review of gene: FAN1: Changed phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulointerstitial Disease v1.0 FAN1 Zornitza Stark changed review comment from: Phenotypic overlap.
Sources: Expert Review; to: Phenotypic overlap.

Well established gene-disease association. Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei.
Sources: Expert Review
Renal Ciliopathies and Nephronophthisis v1.3 FAN1 Zornitza Stark Phenotypes for gene: FAN1 were changed from Interstitial nephritis, karyomegalic to Interstitial nephritis, karyomegalic, MIM# 614817
Renal Ciliopathies and Nephronophthisis v1.2 FAN1 Zornitza Stark commented on gene: FAN1: Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei
Mendeliome v0.9507 FAN1 Zornitza Stark reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22772369, 16678356, 7847351, 8546134; Phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.2 FAN1 Zornitza Stark reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Mode of inheritance: None
Congenital nystagmus v0.161 MYO5A Zornitza Stark Marked gene: MYO5A as ready
Congenital nystagmus v0.161 MYO5A Zornitza Stark Gene: myo5a has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.161 MYO5A Zornitza Stark Phenotypes for gene: MYO5A were changed from Griscelli syndrome, type 1 214450 AR to Griscelli syndrome, type 1, MIM# 214450
Congenital nystagmus v0.160 MYO5A Zornitza Stark Publications for gene: MYO5A were set to
Congenital nystagmus v0.159 MYO5A Zornitza Stark reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 32275080, 33981514, 22711375; Phenotypes: Griscelli syndrome, type 1, MIM# 214450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.159 MLPH Zornitza Stark Marked gene: MLPH as ready
Congenital nystagmus v0.159 MLPH Zornitza Stark Gene: mlph has been classified as Red List (Low Evidence).
Congenital nystagmus v0.159 MLPH Zornitza Stark Phenotypes for gene: MLPH were changed from Griscelli syndrome, type 3 609227 AR to Griscelli syndrome, type 3, MIM# 609227
Congenital nystagmus v0.158 MLPH Zornitza Stark Classified gene: MLPH as Red List (low evidence)
Congenital nystagmus v0.158 MLPH Zornitza Stark Gene: mlph has been classified as Red List (Low Evidence).
Congenital nystagmus v0.157 MLPH Zornitza Stark reviewed gene: MLPH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 3, MIM# 609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9507 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from Mannosidosis, beta, MIM# 248510; MONDO:0009562 to Mannosidosis, beta, MIM# 248510; MONDO:0009562; Nystagmus, autosomal dominant
Mendeliome v0.9506 MANBA Zornitza Stark Publications for gene: MANBA were set to
Mendeliome v0.9505 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9504 MANBA Zornitza Stark changed review comment from: Variable severity. Well established gene-disease association.; to: Bi-allelic variants and lysosomal storage disorder: Variable severity. Well established gene-disease association.
Mendeliome v0.9504 MANBA Zornitza Stark changed review comment from: Two mono-allelic variants reported in association with isolated nystagmus. Note bi-allelic variants cause a lysosomal storage disorder.; to: Two mono-allelic variants reported in association with isolated nystagmus.
Mendeliome v0.9504 MANBA Zornitza Stark edited their review of gene: MANBA: Added comment: Two mono-allelic variants reported in association with isolated nystagmus. Note bi-allelic variants cause a lysosomal storage disorder.; Changed publications: 30552791, 25741867; Changed phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562, Nystagmus, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.157 MANBA Zornitza Stark Marked gene: MANBA as ready
Congenital nystagmus v0.157 MANBA Zornitza Stark Gene: manba has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.157 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from Mannosidosis, beta 248510 AR to Nystagmus, autosomal dominant
Congenital nystagmus v0.156 MANBA Zornitza Stark Publications for gene: MANBA were set to
Congenital nystagmus v0.155 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.154 MANBA Zornitza Stark reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 30552791, 25741867; Phenotypes: Nystagmus, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Classified gene: LAMA1 as Green List (high evidence)
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.153 LAMA1 Zornitza Stark reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Poretti-Boltshauser syndrome, MIM# 615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal