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Aortopathy_Connective Tissue Disorders v1.28 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Red List (Low Evidence).
Aortopathy_Connective Tissue Disorders v1.27 COL6A2 Zornitza Stark reviewed gene: COL6A2: Rating: RED; Mode of pathogenicity: None; Publications: 31273343; Phenotypes: Myopathic EDS; Mode of inheritance: None
Mendeliome v0.7593 KDR Zornitza Stark Marked gene: KDR as ready
Mendeliome v0.7593 KDR Zornitza Stark Gene: kdr has been classified as Green List (High Evidence).
Mendeliome v0.7593 KDR Zornitza Stark Phenotypes for gene: KDR were changed from to Pulmonary hypertension; Haemangioma, capillary infantile, somatic 602089
Mendeliome v0.7592 KDR Zornitza Stark Publications for gene: KDR were set to
Mendeliome v0.7591 KDR Zornitza Stark Mode of inheritance for gene: KDR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7590 KDR Zornitza Stark reviewed gene: KDR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980491, 29650961, 18931684; Phenotypes: Pulmonary hypertension, Haemangioma, capillary infantile, somatic 602089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.3 KDR Zornitza Stark Publications for gene: KDR were set to 31980491
Pulmonary Arterial Hypertension v1.2 KDR Zornitza Stark Classified gene: KDR as Green List (high evidence)
Pulmonary Arterial Hypertension v1.2 KDR Zornitza Stark Gene: kdr has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.1 KDR Zornitza Stark edited their review of gene: KDR: Changed rating: GREEN
Pulmonary Arterial Hypertension v1.1 KDR Zornitza Stark edited their review of gene: KDR: Added comment: Additional case-control and functional data, rated as STRONG by ClinGen.; Changed publications: 31980491, 29650961
Mendeliome v0.7590 TRIM2 Zornitza Stark Marked gene: TRIM2 as ready
Mendeliome v0.7590 TRIM2 Zornitza Stark Gene: trim2 has been classified as Green List (High Evidence).
Mendeliome v0.7590 TRIM2 Zornitza Stark Phenotypes for gene: TRIM2 were changed from to Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208
Mendeliome v0.7589 TRIM2 Zornitza Stark Publications for gene: TRIM2 were set to
Mendeliome v0.7588 TRIM2 Zornitza Stark Mode of inheritance for gene: TRIM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7587 TRIM2 Zornitza Stark reviewed gene: TRIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562820, 25893792, 18687884, 32815244, 32205255, 25893792; Phenotypes: Charcot-Marie-Tooth disease, type 2R, MIM# 615490, MONDO:0014208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.21 RAB7A Zornitza Stark Marked gene: RAB7A as ready
Pain syndromes v0.21 RAB7A Zornitza Stark Gene: rab7a has been classified as Green List (High Evidence).
Pain syndromes v0.21 RAB7A Zornitza Stark Phenotypes for gene: RAB7A were changed from HSAN1/2B; Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882 to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949
Pain syndromes v0.20 RAB7A Zornitza Stark Mode of inheritance for gene: RAB7A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.19 RAB7A Zornitza Stark reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12545426, 17060578, 32326241, 29130394, 25614874; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882, MONDO:0010949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7587 RAB7A Zornitza Stark Marked gene: RAB7A as ready
Mendeliome v0.7587 RAB7A Zornitza Stark Gene: rab7a has been classified as Green List (High Evidence).
Mendeliome v0.7587 RAB7A Zornitza Stark Phenotypes for gene: RAB7A were changed from to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949
Mendeliome v0.7586 RAB7A Zornitza Stark Publications for gene: RAB7A were set to
Mendeliome v0.7585 RAB7A Zornitza Stark Mode of inheritance for gene: RAB7A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7584 RAB7A Zornitza Stark reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12545426, 17060578, 32326241, 29130394, 25614874; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882, MONDO:0010949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autonomic neuropathy v0.46 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from OMIM# 616488 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8 to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662
Autonomic neuropathy v0.45 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to
Autonomic neuropathy v0.44 PRDM12 Zornitza Stark reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.19 PRDM12 Zornitza Stark Marked gene: PRDM12 as ready
Pain syndromes v0.19 PRDM12 Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence).
Pain syndromes v0.19 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, 616488; HSAN VIII; HSAN 8; Hereditary sensory and autonomic neuropathy type VIII to insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662
Pain syndromes v0.18 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to 26975306; 25891934; 26005867
Pain syndromes v0.17 PRDM12 Zornitza Stark reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7584 PRDM12 Zornitza Stark Marked gene: PRDM12 as ready
Mendeliome v0.7584 PRDM12 Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence).
Mendeliome v0.7584 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662
Mendeliome v0.7583 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to
Mendeliome v0.7582 PRDM12 Zornitza Stark Mode of inheritance for gene: PRDM12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7581 PRDM12 Zornitza Stark reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7581 FIP1L1 Zornitza Stark Marked gene: FIP1L1 as ready
Mendeliome v0.7581 FIP1L1 Zornitza Stark Gene: fip1l1 has been classified as Red List (Low Evidence).
Mendeliome v0.7581 FIP1L1 Zornitza Stark Classified gene: FIP1L1 as Red List (low evidence)
Mendeliome v0.7581 FIP1L1 Zornitza Stark Gene: fip1l1 has been classified as Red List (Low Evidence).
Mendeliome v0.7580 FIP1L1 Zornitza Stark reviewed gene: FIP1L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7580 THBS2 Zornitza Stark Marked gene: THBS2 as ready
Mendeliome v0.7580 THBS2 Zornitza Stark Gene: thbs2 has been classified as Red List (Low Evidence).
Mendeliome v0.7580 THBS2 Zornitza Stark Phenotypes for gene: THBS2 were changed from to {Lumbar disc herniation, susceptibility to} 603932
Mendeliome v0.7579 THBS2 Zornitza Stark Classified gene: THBS2 as Red List (low evidence)
Mendeliome v0.7579 THBS2 Zornitza Stark Gene: thbs2 has been classified as Red List (Low Evidence).
Mendeliome v0.7578 THBS2 Zornitza Stark reviewed gene: THBS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Lumbar disc herniation, susceptibility to} 603932; Mode of inheritance: None
Mendeliome v0.7578 ADIPOQ Zornitza Stark Marked gene: ADIPOQ as ready
Mendeliome v0.7578 ADIPOQ Zornitza Stark Added comment: Comment when marking as ready: No evidence for association with Mendelian disease.
Mendeliome v0.7578 ADIPOQ Zornitza Stark Gene: adipoq has been classified as Red List (Low Evidence).
Mendeliome v0.7578 ADIPOQ Zornitza Stark Phenotypes for gene: ADIPOQ were changed from to Adiponectin deficiency MIM#612556
Mendeliome v0.7577 ADIPOQ Zornitza Stark Publications for gene: ADIPOQ were set to
Mendeliome v0.7576 ADIPOQ Zornitza Stark Classified gene: ADIPOQ as Red List (low evidence)
Mendeliome v0.7576 ADIPOQ Zornitza Stark Gene: adipoq has been classified as Red List (Low Evidence).
Mendeliome v0.7575 INTU Zornitza Stark Marked gene: INTU as ready
Mendeliome v0.7575 INTU Zornitza Stark Gene: intu has been classified as Green List (High Evidence).
Mendeliome v0.7575 INTU Zornitza Stark Phenotypes for gene: INTU were changed from to ?Orofaciodigital syndrome XVII MIM#617926; ?Short-rib thoracic dysplasia 20 with polydactyly
Mendeliome v0.7574 INTU Zornitza Stark Publications for gene: INTU were set to
Mendeliome v0.7573 INTU Zornitza Stark Mode of inheritance for gene: INTU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.278 INTU Zornitza Stark Marked gene: INTU as ready
Ciliopathies v0.278 INTU Zornitza Stark Gene: intu has been classified as Green List (High Evidence).
Mendeliome v0.7572 ADIPOQ Chern Lim reviewed gene: ADIPOQ: Rating: RED; Mode of pathogenicity: None; Publications: 10918532, 32685557, 33075772, 30574262; Phenotypes: Adiponectin deficiency MIM#612556; Mode of inheritance: None
Ciliopathies v0.278 INTU Zornitza Stark Classified gene: INTU as Green List (high evidence)
Ciliopathies v0.278 INTU Zornitza Stark Gene: intu has been classified as Green List (High Evidence).
Mendeliome v0.7572 INTU Elena Savva reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27158779, 29451301, 20067783; Phenotypes: ?Orofaciodigital syndrome XVII MIM#617926, ?Short-rib thoracic dysplasia 20 with polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.277 INTU Elena Savva gene: INTU was added
gene: INTU was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTU were set to PMID: 27158779; 29451301; 20067783
Phenotypes for gene: INTU were set to ?Orofaciodigital syndrome XVII MIM#617926; ?Short-rib thoracic dysplasia 20 with polydactyly MIM#617925
Review for gene: INTU was set to GREEN
Added comment: PMID: 27158779 - 1 hom (PTC) and 1 chet (PTC/missense) patient with OFD or Short-rib thoracic dysplasia

PMID: 20067783 - null mouse model exhibits severe polydactyly, lethal midgestation, exhibiting multiple defects including neural tube closure defects, abnormal dorsal/ventral patterning of the central nervous system

PMID: 29451301 - 1 chet patient (missense/CNV) with OFD and polydactyly
Sources: Literature
Mendeliome v0.7572 NGF Zornitza Stark Marked gene: NGF as ready
Mendeliome v0.7572 NGF Zornitza Stark Gene: ngf has been classified as Green List (High Evidence).
Mendeliome v0.7572 NGF Zornitza Stark Phenotypes for gene: NGF were changed from to Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092
Mendeliome v0.7571 NGF Zornitza Stark Publications for gene: NGF were set to
Mendeliome v0.7570 NGF Zornitza Stark Mode of inheritance for gene: NGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7569 NGF Zornitza Stark reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 14976160, 20978020, 33884296, 32693191, 31685654, 30296891; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654, MONDO:0012092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7569 SPEG Zornitza Stark Phenotypes for gene: SPEG were changed from Centronuclear myopathy 5, MIM# 615959 to Centronuclear myopathy 5, MIM# 615959; Dilated cardiomyopathy
Mendeliome v0.7568 SPEG Zornitza Stark Publications for gene: SPEG were set to 25087613; 31625632; 30412272; 30157964; 29614691; 29474540; 28624463; 26578207; 25087613
Mendeliome v0.7567 SPEG Zornitza Stark edited their review of gene: SPEG: Added comment: PMIDs 32925938;33794647: Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy.; Changed publications: 25087613, 31625632, 30412272, 30157964, 29614691, 29474540, 28624463, 26578207, 25087613, 32925938, 33794647; Changed phenotypes: Centronuclear myopathy 5, MIM# 615959, Dilated cardiomyopathy
Mendeliome v0.7567 GREB1L Zornitza Stark changed review comment from: At least 16 families described, and mouse model supports gene-disease association.; to: CAKUT: At least 16 families described, and mouse model supports gene-disease association.
Regression v0.330 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Regression v0.330 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Regression v0.330 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; MONDO:0032629
Regression v0.329 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Regression v0.328 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.327 NDUFB3 Zornitza Stark Classified gene: NDUFB3 as Red List (low evidence)
Regression v0.327 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Regression v0.326 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: 22277967, 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.291 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Callosome v0.291 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Callosome v0.291 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629
Callosome v0.290 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Callosome v0.289 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.288 NDUFB3 Zornitza Stark Classified gene: NDUFB3 as Red List (low evidence)
Callosome v0.288 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Callosome v0.287 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629
Mitochondrial disease v0.625 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Mitochondrial disease v0.624 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.623 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7567 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Mendeliome v0.7567 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Green List (High Evidence).
Mendeliome v0.7567 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629
Mendeliome v0.7566 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Mendeliome v0.7565 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7564 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7564 NDUFB3 Elena Savva reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499348; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3758 RALA Zornitza Stark Phenotypes for gene: RALA were changed from Intellectual disability; short stature; dysmorphism to Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311; Intellectual disability; short stature; dysmorphism
Intellectual disability syndromic and non-syndromic v0.3757 RALA Zornitza Stark edited their review of gene: RALA: Changed phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311, Intellectual disability, short stature, dysmorphism
Genetic Epilepsy v0.1079 RALA Zornitza Stark Phenotypes for gene: RALA were changed from Intellectual disability; Seizures to Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311; Intellectual disability; Seizures
Genetic Epilepsy v0.1078 RALA Zornitza Stark edited their review of gene: RALA: Changed phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311, Intellectual disability, Seizures
Mendeliome v0.7564 RALA Zornitza Stark Phenotypes for gene: RALA were changed from Intellectual disability; Seizures to Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311; Intellectual disability; Seizures
Mendeliome v0.7563 RALA Zornitza Stark edited their review of gene: RALA: Changed phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311, Intellectual disability, Seizures
Mendeliome v0.7563 EXOSC1 Zornitza Stark Phenotypes for gene: EXOSC1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 1F, MIM# 619304
Mendeliome v0.7562 EXOSC1 Zornitza Stark edited their review of gene: EXOSC1: Changed phenotypes: Pontocerebellar hypoplasia, type 1F, MIM# 619304
Cerebellar and Pontocerebellar Hypoplasia v1.10 EXOSC1 Zornitza Stark Phenotypes for gene: EXOSC1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 1F, MIM# 619304
Cerebellar and Pontocerebellar Hypoplasia v1.9 EXOSC1 Zornitza Stark reviewed gene: EXOSC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1F, MIM# 619304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.108 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Hereditary Neuropathy v0.107 SLC25A46 Zornitza Stark changed review comment from: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy.
Sources: Expert list; to: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.
Sources: Expert list
Hereditary Neuropathy v0.107 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Ataxia v0.280 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Hereditary motor and sensory neuropathy type VIB, MIM#616505 to Hereditary motor and sensory neuropathy type VIB, MIM#616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Ataxia v0.279 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.

At least 10 unrelated families reported, supportive functional data.
Ataxia v0.279 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Mitochondrial disease v0.623 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Mitochondrial disease v0.622 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.

Mitochondrial carrier protein.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.

At least 10 unrelated families reported, supportive functional data.

Mitochondrial carrier protein.
Mitochondrial disease v0.622 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Optic Atrophy v0.132 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB (MIM#616505) to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Pontocerebellar hypoplasia, type 1E, MIM# 619303
Optic Atrophy v0.131 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1E, MIM# 619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7562 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Mendeliome v0.7561 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New disease entity added by OMIM in 2021 to reflect this more severe end of the spectrum.

At least 10 unrelated families reported, supportive functional data.
Mendeliome v0.7561 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Cerebellar and Pontocerebellar Hypoplasia v1.9 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB (MIM#616505) to Pontocerebellar hypoplasia, type 1E, MIM# 619303
Cerebellar and Pontocerebellar Hypoplasia v1.8 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1E, MIM# 619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7561 CAPN15 Zornitza Stark Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589 to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318; microphthalmia HP:0000568; coloboma HP:0000589
Intellectual disability syndromic and non-syndromic v0.3757 CAPN15 Zornitza Stark Marked gene: CAPN15 as ready
Intellectual disability syndromic and non-syndromic v0.3757 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3757 CAPN15 Zornitza Stark Classified gene: CAPN15 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3757 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3756 CAPN15 Zornitza Stark gene: CAPN15 was added
gene: CAPN15 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 33410501; 32885237
Phenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318
Review for gene: CAPN15 was set to GREEN
Added comment: 5 families reported, including DD/ID in 3. Profound in one family with bi-allelic LoF variant, PMID 33410501.
Sources: Literature
Mendeliome v0.7560 CAPN15 Zornitza Stark Publications for gene: CAPN15 were set to 32885237
Mendeliome v0.7559 CAPN15 Zornitza Stark reviewed gene: CAPN15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33410501; Phenotypes: Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318, microphthalmia HP:0000568, coloboma HP:0000589; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v1.6 CAPN15 Zornitza Stark Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589 to Oculogastrointestinal neurodevelopmental syndrome 619318; microphthalmia HP:0000568; coloboma HP:0000589
Anophthalmia_Microphthalmia_Coloboma v1.5 CAPN15 Zornitza Stark edited their review of gene: CAPN15: Changed phenotypes: Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318, microphthalmia HP:0000568, coloboma HP:0000589
Mendeliome v0.7559 EXOC2 Zornitza Stark Phenotypes for gene: EXOC2 were changed from Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology to Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306; Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology
Mendeliome v0.7558 EXOC2 Zornitza Stark edited their review of gene: EXOC2: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306, Global developmental delay, Intellectual disability, Abnormality of the face, Abnormality of brain morphology
Intellectual disability syndromic and non-syndromic v0.3755 EXOC2 Zornitza Stark Phenotypes for gene: EXOC2 were changed from Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology to Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306; Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology
Intellectual disability syndromic and non-syndromic v0.3754 EXOC2 Zornitza Stark reviewed gene: EXOC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7558 SPI1 Zornitza Stark Marked gene: SPI1 as ready
Mendeliome v0.7558 SPI1 Zornitza Stark Gene: spi1 has been classified as Green List (High Evidence).
Mendeliome v0.7558 SPI1 Zornitza Stark Classified gene: SPI1 as Green List (high evidence)
Mendeliome v0.7558 SPI1 Zornitza Stark Gene: spi1 has been classified as Green List (High Evidence).
Mendeliome v0.7557 SPI1 Zornitza Stark gene: SPI1 was added
gene: SPI1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPI1 were set to 33951726
Phenotypes for gene: SPI1 were set to Agammaglobulinaemia
Review for gene: SPI1 was set to GREEN
Added comment: Six unrelated individuals reported, four with de novo variants, two unphased. Some functional data.
Sources: Literature
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Marked gene: SPI1 as ready
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Gene: spi1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Classified gene: SPI1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Gene: spi1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.67 SPI1 Zornitza Stark gene: SPI1 was added
gene: SPI1 was added to Predominantly Antibody Deficiency. Sources: Literature
Mode of inheritance for gene: SPI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPI1 were set to 33951726
Phenotypes for gene: SPI1 were set to Agammaglobulinaemia
Review for gene: SPI1 was set to GREEN
Added comment: Six unrelated individuals reported, four with de novo variants, two unphased. Some functional data.
Sources: Literature
Mendeliome v0.7556 NDRG1 Zornitza Stark Marked gene: NDRG1 as ready
Mendeliome v0.7556 NDRG1 Zornitza Stark Gene: ndrg1 has been classified as Green List (High Evidence).
Mendeliome v0.7556 NDRG1 Zornitza Stark Phenotypes for gene: NDRG1 were changed from to Charcot Marie Tooth disease, type 4D, 601455; MONDO:0011085; Auditory neuropathy
Mendeliome v0.7555 NDRG1 Zornitza Stark Publications for gene: NDRG1 were set to
Mendeliome v0.7554 NDRG1 Zornitza Stark Mode of inheritance for gene: NDRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7553 NDRG1 Zornitza Stark reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10831399, 24136616, 33334662, 29724652, 29174527, 28776325; Phenotypes: Charcot Marie Tooth disease, type 4D, 601455, MONDO:0011085, Auditory neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7553 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Mendeliome v0.7553 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Green List (High Evidence).
Mendeliome v0.7553 MTMR2 Zornitza Stark Phenotypes for gene: MTMR2 were changed from to Charcot-Marie-Tooth disease, type 4B1, 601382; MONDO:0011066
Mendeliome v0.7552 MTMR2 Zornitza Stark Publications for gene: MTMR2 were set to 10802647; 16249189; 33653949; 32586600; 32488727; 31680794
Mendeliome v0.7552 MTMR2 Zornitza Stark Publications for gene: MTMR2 were set to
Mendeliome v0.7551 MTMR2 Zornitza Stark Mode of inheritance for gene: MTMR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7550 MTMR2 Zornitza Stark reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802647, 16249189, 33653949, 32586600, 32488727, 31680794; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, 601382, MONDO:0011066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.11 TMEM222 Zornitza Stark Marked gene: TMEM222 as ready
Microcephaly v1.11 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Microcephaly v1.11 TMEM222 Zornitza Stark Classified gene: TMEM222 as Green List (high evidence)
Microcephaly v1.11 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Microcephaly v1.10 TMEM222 Zornitza Stark gene: TMEM222 was added
gene: TMEM222 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM222 were set to 33824500
Phenotypes for gene: TMEM222 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: TMEM222 was set to GREEN
Added comment: Polla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants. The phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17.
Sources: Literature
Mendeliome v0.7550 TMEM222 Zornitza Stark Marked gene: TMEM222 as ready
Mendeliome v0.7550 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Mendeliome v0.7550 TMEM222 Zornitza Stark Classified gene: TMEM222 as Green List (high evidence)
Mendeliome v0.7550 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Mendeliome v0.7549 TMEM222 Zornitza Stark gene: TMEM222 was added
gene: TMEM222 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM222 were set to 33824500
Phenotypes for gene: TMEM222 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: TMEM222 was set to GREEN
Added comment: Polla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants. The phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17.
Sources: Literature
Genetic Epilepsy v0.1078 TMEM222 Zornitza Stark Marked gene: TMEM222 as ready
Genetic Epilepsy v0.1078 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1078 TMEM222 Zornitza Stark Classified gene: TMEM222 as Green List (high evidence)
Genetic Epilepsy v0.1078 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3754 TMEM222 Zornitza Stark Classified gene: TMEM222 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3754 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1077 TMEM222 Konstantinos Varvagiannis gene: TMEM222 was added
gene: TMEM222 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM222 were set to 33824500
Phenotypes for gene: TMEM222 were set to Motor delay; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Broad-based gait; Abnormality of nervous system morphology; Seizures; Microcephaly; Behavioral abnormality
Penetrance for gene: TMEM222 were set to Complete
Review for gene: TMEM222 was set to AMBER
Added comment: Seizures have been reported in 7 individuals (from 6 families). Consider inclusion with amber/green rating. From the ID panel :

Polla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants.

The phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17. Rare features incl. body tremors, decreased lower extremity muscle mass or disorder of motor neurons.

TMEM222 variants were identified following exome sequencing. Previous investigations incl. metabolic studies, FMR1, chromosomes by standard karyotype or CMA, SMA, CMT1A were reported to be normal (available for some individuals).

TMEM222 variants missense and pLoF ones mostly found in homozygosity (7/9 families were consanguineous, compound heterozygosity reported in a single case from the 9 families). Sanger sequencing was used for confirmation of variants, parental carrier state as well as testing of sibs (unaffected sibs tested in 4 families).

Few individuals had additional genetic findings in other genes, though classified as VUS (3 families).

The gene encodes transmembrane protein 222 (208 residues) which however has unknown function. The protein comprises 3 transmembrane domains and a domain of unknown function. TMEMs are a group of transmembrane proteins spanning membranes with - most commonly - unclear function.

The authors measured expression by qPCR mRNA analysis, demonstrating highest fetal and adult brain expression (incl. parietal and occipital cortex). Expression levels from GTEx data also support a role in neurodevelopment.

Immunocytochemistry revealed highest levels in mature human iPSC-derived glutaminergic cortical neurons and moderate in immature ones. Additional studies supported that the gene is highly expressed in dendrites and might play a role in postsynaptic vesicles (colocalization with postsynaptic and early endosomal markers).

A previous study by Riazuddin et al (2017 - PMID: 27457812) had identified TMEM222 as a candidate gene for ID. This family (PKMR213) however appears to be included as family 2 in the aforementioned publication (same pedigree, variant and phenotype in both articles).

In OMIM there is currently no associated phenotype.

The gene is listed among the primary ID genes in SysID.

Please consider inclusion in the ID panel with green (or amber) rating. This gene may also be included in other panels e.g. for epilepsy, microcephaly, etc.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3753 TMEM222 Konstantinos Varvagiannis gene: TMEM222 was added
gene: TMEM222 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM222 were set to 33824500
Phenotypes for gene: TMEM222 were set to Motor delay; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Broad-based gait; Abnormality of nervous system morphology; Seizures; Microcephaly; Behavioral abnormality
Penetrance for gene: TMEM222 were set to Complete
Review for gene: TMEM222 was set to GREEN
Added comment: Polla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants.

The phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17. Rare features incl. body tremors, decreased lower extremity muscle mass or disorder of motor neurons.

TMEM222 variants were identified following exome sequencing. Previous investigations incl. metabolic studies, FMR1, chromosomes by standard karyotype or CMA, SMA, CMT1A were reported to be normal (available for some individuals).

TMEM222 variants missense and pLoF ones mostly found in homozygosity (7/9 families were consanguineous, compound heterozygosity reported in a single case from the 9 families). Sanger sequencing was used for confirmation of variants, parental carrier state as well as testing of sibs (unaffected sibs tested in 4 families).

Few individuals had additional genetic findings in other genes, though classified as VUS (3 families).

The gene encodes transmembrane protein 222 (208 residues) which however has unknown function. The protein comprises 3 transmembrane domains and a domain of unknown function. TMEMs are a group of transmembrane proteins spanning membranes with - most commonly - unclear function.

The authors measured expression by qPCR mRNA analysis, demonstrating highest fetal and adult brain expression (incl. parietal and occipital cortex). Expression levels from GTEx data also support a role in neurodevelopment.

Immunocytochemistry revealed highest levels in mature human iPSC-derived glutaminergic cortical neurons and moderate in immature ones. Additional studies supported that the gene is highly expressed in dendrites and might play a role in postsynaptic vesicles (colocalization with postsynaptic and early endosomal markers).

A previous study by Riazuddin et al (2017 - PMID: 27457812) had identified TMEM222 as a candidate gene for ID. This family (PKMR213) however appears to be included as family 2 in the aforementioned publication (same pedigree, variant and phenotype in both articles).

In OMIM there is currently no associated phenotype.

The gene is listed among the primary ID genes in SysID.

Please consider inclusion in the ID panel with green (or amber) rating. This gene may also be included in other panels e.g. for epilepsy, microcephaly, etc.
Sources: Literature
Genetic Epilepsy v0.1077 CHD5 Zornitza Stark Marked gene: CHD5 as ready
Genetic Epilepsy v0.1077 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1077 CHD5 Zornitza Stark Classified gene: CHD5 as Green List (high evidence)
Genetic Epilepsy v0.1077 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1076 CHD5 Zornitza Stark gene: CHD5 was added
gene: CHD5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD5 were set to 33944996
Phenotypes for gene: CHD5 were set to Intellectual disability; Epilepsy
Review for gene: CHD5 was set to GREEN
Added comment: 16 unrelated individuals reported with language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%).
Sources: Literature
Mendeliome v0.7548 CHD5 Zornitza Stark Marked gene: CHD5 as ready
Mendeliome v0.7548 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Mendeliome v0.7548 CHD5 Zornitza Stark Classified gene: CHD5 as Green List (high evidence)
Mendeliome v0.7548 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Mendeliome v0.7547 CHD5 Zornitza Stark gene: CHD5 was added
gene: CHD5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD5 were set to 33944996
Phenotypes for gene: CHD5 were set to Intellectual disability; Epilepsy
Review for gene: CHD5 was set to GREEN
Added comment: 16 unrelated individuals reported with language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3753 CHD5 Zornitza Stark Marked gene: CHD5 as ready
Intellectual disability syndromic and non-syndromic v0.3753 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3753 CHD5 Zornitza Stark Classified gene: CHD5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3753 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3752 CHD5 Zornitza Stark gene: CHD5 was added
gene: CHD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD5 were set to 33944996
Phenotypes for gene: CHD5 were set to Intellectual disability; Epilepsy
Review for gene: CHD5 was set to GREEN
Added comment: 16 unrelated individuals reported with language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%).
Sources: Literature
Mendeliome v0.7546 MME Zornitza Stark Marked gene: MME as ready
Mendeliome v0.7546 MME Zornitza Stark Gene: mme has been classified as Green List (High Evidence).
Mendeliome v0.7546 MME Zornitza Stark Phenotypes for gene: MME were changed from to Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017; MONDO:0014866; Spinocerebellar ataxia 43 MIM#617018
Mendeliome v0.7545 MME Zornitza Stark Publications for gene: MME were set to
Mendeliome v0.7544 MME Zornitza Stark Mode of inheritance for gene: MME was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7543 MME Zornitza Stark reviewed gene: MME: Rating: GREEN; Mode of pathogenicity: None; Publications: 26991897, 27588448, 33144514, 31429185, 27583304; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017, MONDO:0014866, Spinocerebellar ataxia 43 MIM#617018; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3751 FBXO31 Zornitza Stark Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant to Mental retardation, autosomal recessive 45, MIM#615979; Spastic-dystonic cerebral palsy, de novo dominant
Intellectual disability syndromic and non-syndromic v0.3750 FBXO31 Zornitza Stark Publications for gene: FBXO31 were set to 24623383; 32989326
Intellectual disability syndromic and non-syndromic v0.3749 FBXO31 Zornitza Stark Mode of inheritance for gene: FBXO31 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3748 FBXO31 Zornitza Stark Classified gene: FBXO31 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3748 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3747 FBXO31 Zornitza Stark changed review comment from: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.; to: AR ID: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Intellectual disability syndromic and non-syndromic v0.3747 FBXO31 Zornitza Stark edited their review of gene: FBXO31: Added comment: PMIDs 33675180; 32989326: three unrelated individuals with de novo missense variant, (p.Asp334Asn) and spastic-dystonic CP, including ID.; Changed rating: GREEN; Changed publications: 24623383, 33675180, 32989326; Changed phenotypes: Mental retardation, autosomal recessive 45, MIM#615979, Spastic-dystonic cerebral palsy, de novo dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7543 FBXO31 Zornitza Stark Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant to Mental retardation, autosomal recessive 45, MIM#615979; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant
Mendeliome v0.7542 FBXO31 Zornitza Stark Classified gene: FBXO31 as Green List (high evidence)
Mendeliome v0.7542 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Green List (High Evidence).
Mendeliome v0.7541 FBXO31 Zornitza Stark changed review comment from: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Sources: Expert list; to: AR intellectual disability: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Sources: Expert list
Mendeliome v0.7541 FBXO31 Zornitza Stark edited their review of gene: FBXO31: Added comment: PMIDs 33675180; 32989326: three unrelated individuals with de novo missense variant, (p.Asp334Asn) and spastic-dystonic CP.; Changed rating: GREEN; Changed publications: 24623383, 33675180, 32989326; Changed phenotypes: Mental retardation, autosomal recessive 45, MIM#615979, Spastic-dystonic cerebral palsy, de novo dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral Palsy v0.60 FBXO31 Zornitza Stark Classified gene: FBXO31 as Green List (high evidence)
Cerebral Palsy v0.60 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Green List (High Evidence).
Cerebral Palsy v0.59 FBXO31 Zornitza Stark reviewed gene: FBXO31: Rating: GREEN; Mode of pathogenicity: None; Publications: 33675180; Phenotypes: Spastic-dystonic cerebral palsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amelogenesis imperfecta v0.1 Zornitza Stark Panel types changed to Rare Disease
Amelogenesis imperfecta v0.0 TUFT1 Zornitza Stark gene: TUFT1 was added
gene: TUFT1 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUFT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUFT1 were set to 7919663
Phenotypes for gene: TUFT1 were set to amelogenesis imperfecta
Amelogenesis imperfecta v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta
Amelogenesis imperfecta v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM165 were set to 22683087
Phenotypes for gene: TMEM165 were set to amelogenesis imperfecta
Amelogenesis imperfecta v0.0 SMARCD2 Zornitza Stark gene: SMARCD2 was added
gene: SMARCD2 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to 28369036
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, 617475
Amelogenesis imperfecta v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ1 were set to 23341834
Phenotypes for gene: KCNJ1 were set to Amelogenesis Imperfecta; Bartter syndrome, type 2, 241200
Amelogenesis imperfecta v0.0 SP6 Zornitza Stark gene: SP6 was added
gene: SP6 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SP6 were set to 18297738; 32167558; 18156176; 22676574
Phenotypes for gene: SP6 were set to Amelogenesis Imperfecta
Amelogenesis imperfecta v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX26 were set to 28944237
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger), 614872; enamel dysplasia; Heimler syndrome; Amelogenesis imperfecta
Amelogenesis imperfecta v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LAMC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LAMC2 were set to 26956061
Phenotypes for gene: LAMC2 were set to Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, Herlitz type, 226700
Amelogenesis imperfecta v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ITGB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia)
Amelogenesis imperfecta v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 27530400
Phenotypes for gene: CLDN19 were set to Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)
Amelogenesis imperfecta v0.0 CLDN16 Zornitza Stark gene: CLDN16 was added
gene: CLDN16 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN16 were set to 26426912
Phenotypes for gene: CLDN16 were set to Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)
Amelogenesis imperfecta v0.0 AMTN Zornitza Stark gene: AMTN was added
gene: AMTN was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AMTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMTN were set to 27412008
Phenotypes for gene: AMTN were set to dominant hypomineralised AI; Amelogenesis imperfecta; ?Amelogenesis imperfecta, type IIIB, 617607; Amelogenesis imperfecta, hypomaturation type
Amelogenesis imperfecta v0.0 WDR72 Zornitza Stark gene: WDR72 was added
gene: WDR72 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR72 were set to 21196691; 27259663; 20938048; 26502894; 23293580; 25008349; 19853237
Phenotypes for gene: WDR72 were set to Amelogenesis Imperfecta, Type IIA3, 613211; Amelogenesis imperfecta, type IIA3, 613211; Amelogenesis Imperfecta, Recessive; Hypomaturation AI
Amelogenesis imperfecta v0.0 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STIM1 were set to 19420366; 26560041; 24621671; 22190180; 28732182
Phenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783
Amelogenesis imperfecta v0.0 SLC24A4 Zornitza Stark gene: SLC24A4 was added
gene: SLC24A4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC24A4 were set to 24621671; 25442250; 24532815; 26502894; 27129268; 23375655
Phenotypes for gene: SLC24A4 were set to Amelogenesis imperfecta, type IIA5, 615887; amelogenesis imperfecta (non-syndromic form); hypomaturation/hypomineralised amelogenesis imperfecta
Amelogenesis imperfecta v0.0 SLC13A5 Zornitza Stark gene: SLC13A5 was added
gene: SLC13A5 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 27261973; 26384929; 27600704; 24995870
Phenotypes for gene: SLC13A5 were set to Kohlsch tter-T nz syndrome(KTZS); Epileptic encephalopathy, early infantile, 25 615905; hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 SLC10A7 Zornitza Stark gene: SLC10A7 was added
gene: SLC10A7 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 29878199; 30082715
Phenotypes for gene: SLC10A7 were set to short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363; skeletal dysplasia and amelogenesis imperfecta; scoliosis
Amelogenesis imperfecta v0.0 ROGDI Zornitza Stark gene: ROGDI was added
gene: ROGDI was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROGDI were set to 22482807; 28651123; 3236364; 22424600; 25565929; 23086778
Phenotypes for gene: ROGDI were set to Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth); Kohlschutter-Tonz syndrome, 226750
Amelogenesis imperfecta v0.0 RELT Zornitza Stark gene: RELT was added
gene: RELT was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RELT were set to 30506946
Phenotypes for gene: RELT were set to amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386
Amelogenesis imperfecta v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 26387595; 27302843; 16530715
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862; Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta); Peroxisome biogenesis disorder 4B, 614863
Amelogenesis imperfecta v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX1 were set to 26387595; 27633571; 27302843
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100; Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta); Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539; hypomineralized amelogenesis imperfecta; amelogenesis imperfecta
Amelogenesis imperfecta v0.0 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORAI1 were set to 26469693; 16582901; 20004786
Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782
Amelogenesis imperfecta v0.0 MMP20 Zornitza Stark gene: MMP20 was added
gene: MMP20 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MMP20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP20 were set to 23625376; 26124219; 28659819; 19966041; 26502894; 28473773; 23355523; 18096894; 16246936; 15744043
Phenotypes for gene: MMP20 were set to Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529; Amelogenesis imperfecta, type IIA2, 612529; Amelogenesis Imperfecta, Recessive
Amelogenesis imperfecta v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP3 were set to 28084688; 25669657
Phenotypes for gene: LTBP3 were set to Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia
Amelogenesis imperfecta v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LAMB3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: LAMB3 were set to 23958762; 7706760; 23632796; 26502894; 27220909; 25769099; 24494736
Phenotypes for gene: LAMB3 were set to Amelogenesis Imperfecta, Type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 26700; Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, non-Herlitz type, 226650
Mode of pathogenicity for gene: LAMB3 was set to Other - please provide details in the comments
Amelogenesis imperfecta v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LAMA3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: LAMA3 were set to 22434185; 26502894; 27827380
Phenotypes for gene: LAMA3 were set to Laryngoonychocutaneous syndrome 245660; Epidermolysis bullosa, junctional, Herlitz type 226700; Epidermolysis bullosa, generalized atrophic benign 226650; Amelogenesis imperfecta, hypoplastic type
Amelogenesis imperfecta v0.0 KLK4 Zornitza Stark gene: KLK4 was added
gene: KLK4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLK4 were set to 15235027; 23355523; 26124219; 28611678
Phenotypes for gene: KLK4 were set to Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700; Amelogenesis imperfecta, type IIA1, 204700
Amelogenesis imperfecta v0.0 ITGB6 Zornitza Stark gene: ITGB6 was added
gene: ITGB6 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ITGB6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGB6 were set to 25431241; 26695873; 24305999; 24319098
Phenotypes for gene: ITGB6 were set to Amelogenesis imperfecta, type IH, 616221; amelogenesis imperfecta (non-syndromic form); Amelogenesis imperfecta, type IH, 616221
Amelogenesis imperfecta v0.0 GPR68 Zornitza Stark gene: GPR68 was added
gene: GPR68 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GPR68 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR68 were set to 27693231
Phenotypes for gene: GPR68 were set to Amelogenesis imperfecta, hypomaturation type, IIA6, 617217
Amelogenesis imperfecta v0.0 FAM83H Zornitza Stark gene: FAM83H was added
gene: FAM83H was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM83H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM83H were set to 18484629; 19407157; 19825039; 26481691; 21702852; 20160442; 26142250; 22414746; 19828885; 19220331; 26502894; 18252228; 21597265; 21118793; 26788537; 26171361
Phenotypes for gene: FAM83H were set to Amelogenesis imperfecta, type III, 130900; Amelogenesis Imperfecta, Type III, 130900; Hypocalcified AI
Mode of pathogenicity for gene: FAM83H was set to Other - please provide details in the comments
Amelogenesis imperfecta v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 24982027; 20825432; 24458843; 20453638; 25928877; 27667191; 23325605; 27862258; 19250384; 17924334; 24039075
Phenotypes for gene: FAM20C were set to hypoplastic Amelogenesis Imperfecta; Raine Syndrome, 259775
Amelogenesis imperfecta v0.0 FAM20A Zornitza Stark gene: FAM20A was added
gene: FAM20A was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20A were set to 23434854; 23697977; 23468644; 24756937; 21549343; 24259279; 24196488; 26502894; 25827751; 21990045
Phenotypes for gene: FAM20A were set to Amelogenesis Imperfecta, Type IG, 204690; Hypomieralised AI; Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690
Amelogenesis imperfecta v0.0 ENAM Zornitza Stark gene: ENAM was added
gene: ENAM was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ENAM were set to 14684688; 11978766; 12407086; 20439930; 25769099; 22540999; 25143514; 22029166; 19329462; 28334996; 26502894; 17316551; 21597265; 16246937; 15723871; 11487571
Phenotypes for gene: ENAM were set to Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; autosomal recessive amelogenesis imperfecta; Amelogenesis Imperfecta, Dominant
Amelogenesis imperfecta v0.0 DLX3 Zornitza Stark gene: DLX3 was added
gene: DLX3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX3 were set to 15666299; 23949819; 26104267; 21252474; 20151948; 9467018
Phenotypes for gene: DLX3 were set to amelogenesis imperfecta with taurodontism; hypoplastic AI, taurodontism and kinky hair; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); Amelogenesis Imperfecta, Dominant; Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic; Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510
Amelogenesis imperfecta v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL17A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL17A1 were set to 26502894; 27558265; 8669466; 16820943
Phenotypes for gene: COL17A1 were set to non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 CNNM4 Zornitza Stark gene: CNNM4 was added
gene: CNNM4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNNM4 were set to cone-rod dystrophy and amelogenesis imperfecta; Jalili syndrome, 217080 (includes amelogenesis imperfecta)
Amelogenesis imperfecta v0.0 C4orf26 Zornitza Stark gene: C4orf26 was added
gene: C4orf26 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C4orf26 were set to 22901946; 27558265
Phenotypes for gene: C4orf26 were set to Amelogenesis imperfecta, type IIA4, 614832; Amelogenesis Imperfecta, Type IIA4, 614832; hypomineralized amelogenesis imperfecta
Amelogenesis imperfecta v0.0 AMELX Zornitza Stark gene: AMELX was added
gene: AMELX was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMELX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: AMELX were set to 17189466; 22243263; 7599636; 23251683; 1483698; 1916828; 9188994; 15111628; 11201048; 26502894; 7782077; 11922869; 28130977; 8406474; 11839357; 25117480; 19610109
Phenotypes for gene: AMELX were set to Amelogenesis imperfecta, type 1E, 301200; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI; iX-linked hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 AMBN Zornitza Stark gene: AMBN was added
gene: AMBN was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMBN were set to 24858907; 26502894
Phenotypes for gene: AMBN were set to Amelogenesis imperfecta, type IF, 616270
Amelogenesis imperfecta v0.0 ACP4 Zornitza Stark gene: ACP4 was added
gene: ACP4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP4 were set to 28513613; 27843125
Phenotypes for gene: ACP4 were set to Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 Zornitza Stark Added panel Amelogenesis imperfecta
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Marked gene: SPEG as ready
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Gene: speg has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Classified gene: SPEG as Green List (high evidence)
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Gene: speg has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.87 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 32925938; 33794647
Phenotypes for gene: SPEG were set to Dilated cardiomyopathy; centronuclear myopathy
Review for gene: SPEG was set to GREEN
Added comment: Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy.
Sources: Literature
Mendeliome v0.7541 RCAN1 Zornitza Stark Marked gene: RCAN1 as ready
Mendeliome v0.7541 RCAN1 Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7541 RCAN1 Zornitza Stark Classified gene: RCAN1 as Amber List (moderate evidence)
Mendeliome v0.7541 RCAN1 Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7540 RCAN1 Zornitza Stark gene: RCAN1 was added
gene: RCAN1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RCAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RCAN1 were set to 33863784
Phenotypes for gene: RCAN1 were set to FSGS; proteinuria
Review for gene: RCAN1 was set to AMBER
Added comment: Two families reported, some functional data.
Sources: Literature
Proteinuria v0.167 RCAN1 Zornitza Stark Marked gene: RCAN1 as ready
Proteinuria v0.167 RCAN1 Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.167 RCAN1 Zornitza Stark Classified gene: RCAN1 as Amber List (moderate evidence)
Proteinuria v0.167 RCAN1 Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.166 RCAN1 Zornitza Stark gene: RCAN1 was added
gene: RCAN1 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: RCAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RCAN1 were set to 33863784
Phenotypes for gene: RCAN1 were set to FSGS; proteinuria
Review for gene: RCAN1 was set to AMBER
Added comment: Two families reported, some functional data.
Sources: Literature
Mendeliome v0.7539 ZNFX1 Zornitza Stark Marked gene: ZNFX1 as ready
Mendeliome v0.7539 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Mendeliome v0.7539 ZNFX1 Zornitza Stark Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections to Multisystem inflammation; susceptibility to viral infections; monocytosis; susceptibility to mycobacterial infection
Mendeliome v0.7538 ZNFX1 Zornitza Stark Classified gene: ZNFX1 as Green List (high evidence)
Mendeliome v0.7538 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Mendeliome v0.7537 ZNFX1 Zornitza Stark gene: ZNFX1 was added
gene: ZNFX1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNFX1 were set to 33872655; 33876776
Phenotypes for gene: ZNFX1 were set to Multisystem inflammation; susceptibility to viral infections
Review for gene: ZNFX1 was set to GREEN
Added comment: 15 individuals from 8 families reported with multi-system inflammation and susceptibility to viral infections.

In addition, four indviduals from two unrelated kindreds reported with intermittent monocytosis and mycobacterial disease, including bacillus Calmette-Guérin-osis and disseminated tuberculosis.
Sources: Literature
Callosome v0.287 DPYSL5 Zornitza Stark Marked gene: DPYSL5 as ready
Callosome v0.287 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Callosome v0.287 DPYSL5 Zornitza Stark Classified gene: DPYSL5 as Green List (high evidence)
Callosome v0.287 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Marked gene: ZNFX1 as ready
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Classified gene: ZNFX1 as Green List (high evidence)
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.73 ZNFX1 Zornitza Stark gene: ZNFX1 was added
gene: ZNFX1 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNFX1 were set to 33872655
Phenotypes for gene: ZNFX1 were set to Multisystem inflammation; susceptibility to viral infections
Review for gene: ZNFX1 was set to GREEN
Added comment: 15 individuals from 8 families reported.
Sources: Literature
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Marked gene: ZNFX1 as ready
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Classified gene: ZNFX1 as Green List (high evidence)
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.109 ZNFX1 Zornitza Stark gene: ZNFX1 was added
gene: ZNFX1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNFX1 were set to 33872655
Phenotypes for gene: ZNFX1 were set to Multisystem inflammation; susceptibility to viral infections
Review for gene: ZNFX1 was set to GREEN
Added comment: 15 individuals from 8 families reported.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.102 UPB1 Seb Lunke Marked gene: UPB1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.102 UPB1 Seb Lunke Gene: upb1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.102 UPB1 Seb Lunke Phenotypes for gene: UPB1 were changed from Beta-ureidopropionase deficiency, 613161 (3) to Beta-ureidopropionase deficiency, MIM #613161
Mackenzie's Mission_Reproductive Carrier Screening v0.101 UPB1 Seb Lunke Publications for gene: UPB1 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.100 UPB1 Seb Lunke Classified gene: UPB1 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.100 UPB1 Seb Lunke Gene: upb1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Marked gene: STXBP3 as ready
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.99 POLA1 Seb Lunke Marked gene: POLA1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.99 POLA1 Seb Lunke Gene: pola1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.70 STXBP3 Zornitza Stark gene: STXBP3 was added
gene: STXBP3 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to 33891011
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation
Review for gene: STXBP3 was set to GREEN
Added comment: 10 individuals from 5 families reported.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.99 POLA1 Seb Lunke Phenotypes for gene: POLA1 were changed from Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220; Van Esch-O'Driscoll syndrome, MIM #301030
Mackenzie's Mission_Reproductive Carrier Screening v0.98 POLA1 Seb Lunke Classified gene: POLA1 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.98 POLA1 Seb Lunke Gene: pola1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7536 STXBP3 Zornitza Stark Marked gene: STXBP3 as ready
Mendeliome v0.7536 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Mendeliome v0.7536 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Mendeliome v0.7536 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Marked gene: TBX22 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Gene: tbx22 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Classified gene: TBX22 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Gene: tbx22 has been classified as Red List (Low Evidence).
Mendeliome v0.7535 STXBP3 Zornitza Stark gene: STXBP3 was added
gene: STXBP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to 33891011
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation
Review for gene: STXBP3 was set to GREEN
Added comment: 10 individuals from 5 families reported.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Marked gene: MBTPS1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Gene: mbtps1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Classified gene: MBTPS1 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Added comment: Comment on list classification: Not quite enough for MM
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Gene: mbtps1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Marked gene: STXBP3 as ready
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.95 COL2A1 Seb Lunke Marked gene: COL2A1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.95 COL2A1 Seb Lunke Gene: col2a1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.95 COL2A1 Seb Lunke Phenotypes for gene: COL2A1 were changed from Otospondylomegaepiphyseal dysplasia, 215150 (3) to Spondyloperipheral dysplasia, MIM #271700
Mackenzie's Mission_Reproductive Carrier Screening v0.94 COL2A1 Seb Lunke Publications for gene: COL2A1 were set to
Autoinflammatory Disorders v0.107 STXBP3 Zornitza Stark gene: STXBP3 was added
gene: STXBP3 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to 33891011
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation
Review for gene: STXBP3 was set to GREEN
Added comment: 10 individuals from 5 families reported.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.93 COL2A1 Seb Lunke Mode of inheritance for gene: COL2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.92 COL2A1 Seb Lunke Classified gene: COL2A1 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.92 COL2A1 Seb Lunke Gene: col2a1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.57 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Inflammatory bowel disease v0.57 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.91 NYX Seb Lunke Marked gene: NYX as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.91 NYX Seb Lunke Gene: nyx has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.56 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Inflammatory bowel disease v0.56 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.55 STXBP3 Zornitza Stark Marked gene: STXBP3 as ready
Inflammatory bowel disease v0.55 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.91 NYX Seb Lunke Phenotypes for gene: NYX were changed from Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3) to Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500
Mackenzie's Mission_Reproductive Carrier Screening v0.90 CLCN4 Seb Lunke Marked gene: CLCN4 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.90 CLCN4 Seb Lunke Gene: clcn4 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.90 CLCN4 Seb Lunke Phenotypes for gene: CLCN4 were changed from Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive to Raynaud-Claes syndrome, MIM #300114
Inflammatory bowel disease v0.55 STXBP3 Zornitza Stark gene: STXBP3 was added
gene: STXBP3 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to 33891011
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation
Review for gene: STXBP3 was set to GREEN
Added comment: 10 individuals from 5 families reported.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.89 CLCN4 Seb Lunke Publications for gene: CLCN4 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.88 CLCN4 Seb Lunke Mode of inheritance for gene: CLCN4 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.87 NEXMIF Seb Lunke Marked gene: NEXMIF as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.87 NEXMIF Seb Lunke Gene: nexmif has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.87 NEXMIF Seb Lunke Phenotypes for gene: NEXMIF were changed from Mental retardation, X-linked 98, 300912 (3) to Mental retardation, X-linked 98, MIM #300912
Mackenzie's Mission_Reproductive Carrier Screening v0.86 NEXMIF Seb Lunke Mode of inheritance for gene: NEXMIF was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.85 NHS Seb Lunke Marked gene: NHS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.85 NHS Seb Lunke Gene: nhs has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.85 NHS Seb Lunke Mode of inheritance for gene: NHS was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.84 COL4A5 Seb Lunke Marked gene: COL4A5 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.84 COL4A5 Seb Lunke Gene: col4a5 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.84 COL4A5 Seb Lunke Mode of inheritance for gene: COL4A5 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.7534 IL21R Zornitza Stark Marked gene: IL21R as ready
Mendeliome v0.7534 IL21R Zornitza Stark Gene: il21r has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Marked gene: IL21R as ready
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Gene: il21r has been classified as Green List (High Evidence).
Mendeliome v0.7534 IL21R Zornitza Stark Phenotypes for gene: IL21R were changed from to Immunodeficiency 56, MIM# 615207
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Phenotypes for gene: IL21R were changed from Immunodeficiency 56, MIM# 615207 to Immunodeficiency 56, MIM# 615207
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Phenotypes for gene: IL21R were changed from to Immunodeficiency 56, MIM# 615207
Mendeliome v0.7533 IL21R Zornitza Stark Publications for gene: IL21R were set to
Mendeliome v0.7532 IL21R Zornitza Stark Mode of inheritance for gene: IL21R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Marked gene: NTNG2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Gene: ntng2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.194 IL21R Zornitza Stark Publications for gene: IL21R were set to
Mendeliome v0.7531 IL21R Zornitza Stark reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: None; Publications: 33929673; Phenotypes: Immunodeficiency 56, MIM# 615207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Classified gene: NTNG2 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Added comment: Comment on list classification: Amber for MM due to rarity
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Gene: ntng2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.193 IL21R Zornitza Stark Mode of inheritance for gene: IL21R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.82 EDA Seb Lunke Marked gene: EDA as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.82 EDA Seb Lunke Gene: eda has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.82 EDA Seb Lunke Mode of inheritance for gene: EDA was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.192 IL21R Zornitza Stark reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: None; Publications: 33929673; Phenotypes: Immunodeficiency 56, MIM# 615207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Marked gene: MOGS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Added comment: Comment when marking as ready: Amber due to rarity
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Gene: mogs has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Deleted their comment
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Classified gene: MOGS as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Gene: mogs has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.80 MOGS Seb Lunke Marked gene: MOGS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.80 MOGS Seb Lunke Added comment: Comment when marking as ready: Remains red due to rarity
Mackenzie's Mission_Reproductive Carrier Screening v0.80 MOGS Seb Lunke Gene: mogs has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Marked gene: DYNC1I2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Gene: dync1i2 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Classified gene: DYNC1I2 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Gene: dync1i2 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.79 FITM2 Seb Lunke Marked gene: FITM2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.79 FITM2 Seb Lunke Gene: fitm2 has been classified as Red List (Low Evidence).
Mendeliome v0.7531 SCD Zornitza Stark Marked gene: SCD as ready
Mendeliome v0.7531 SCD Zornitza Stark Gene: scd has been classified as Red List (Low Evidence).
Mendeliome v0.7531 SCD Zornitza Stark Classified gene: SCD as Red List (low evidence)
Mendeliome v0.7531 SCD Zornitza Stark Gene: scd has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Marked gene: TMEM94 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Gene: tmem94 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Classified gene: TMEM94 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Gene: tmem94 has been classified as Amber List (Moderate Evidence).
Callosome v0.286 DPYSL5 Zornitza Stark gene: DPYSL5 was added
gene: DPYSL5 was added to Callosome. Sources: Literature
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Review for gene: DPYSL5 was set to GREEN
Added comment: Nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. The recurrent de novo p.Glu41Lys was found in eight unrelated patients, and a p.Gly47Arg variant was identified in one individual from the first family reported with Ritscher-Schinzel syndrome. Both impaired DPYSL5 function on dendritic outgrowth regulation by preventing the formation of the ternary complex with MAP2 and βIII-tubulin, ultimately leading to abnormal brain development.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3747 DPYSL5 Zornitza Stark Marked gene: DPYSL5 as ready
Intellectual disability syndromic and non-syndromic v0.3747 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3747 DPYSL5 Zornitza Stark Classified gene: DPYSL5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3747 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3746 DPYSL5 Zornitza Stark gene: DPYSL5 was added
gene: DPYSL5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Review for gene: DPYSL5 was set to GREEN
Added comment: Nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. The recurrent de novo p.Glu41Lys was found in eight unrelated patients, and a p.Gly47Arg variant was identified in one individual from the first family reported with Ritscher-Schinzel syndrome. Both impaired DPYSL5 function on dendritic outgrowth regulation by preventing the formation of the ternary complex with MAP2 and βIII-tubulin, ultimately leading to abnormal brain development.
Sources: Literature
Mendeliome v0.7530 DPYSL5 Zornitza Stark Marked gene: DPYSL5 as ready
Mendeliome v0.7530 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Mendeliome v0.7530 DPYSL5 Zornitza Stark Classified gene: DPYSL5 as Green List (high evidence)
Mendeliome v0.7530 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Mendeliome v0.7529 SIN3B Zornitza Stark Marked gene: SIN3B as ready
Mendeliome v0.7529 SIN3B Zornitza Stark Gene: sin3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3745 SIN3B Zornitza Stark Marked gene: SIN3B as ready
Intellectual disability syndromic and non-syndromic v0.3745 SIN3B Zornitza Stark Gene: sin3b has been classified as Green List (High Evidence).
Mendeliome v0.7529 SIN3B Zornitza Stark Mode of inheritance for gene: SIN3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7528 SIN3B Zornitza Stark Classified gene: SIN3B as Green List (high evidence)
Mendeliome v0.7528 SIN3B Zornitza Stark Gene: sin3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3745 SIN3B Zornitza Stark Mode of inheritance for gene: SIN3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3744 SIN3B Zornitza Stark Classified gene: SIN3B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3744 SIN3B Zornitza Stark Gene: sin3b has been classified as Green List (High Evidence).
Ataxia v0.279 VPS41 Zornitza Stark Marked gene: VPS41 as ready
Ataxia v0.279 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Ataxia v0.279 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Ataxia v0.279 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Ataxia v0.278 VPS41 Zornitza Stark gene: VPS41 was added
gene: VPS41 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS41 were set to 32808683; 33764426
Phenotypes for gene: VPS41 were set to Dystonia; intellectual disability; ataxia; cerebellar atrophy
Review for gene: VPS41 was set to GREEN
Added comment: 10 individuals from 6 unrelated families reported with a progressive neurodevelopmental disorder. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia developed in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy. Brain MRI revealed mild cerebellar atrophy and vermian atrophy without other major structural abnormalities in most affected individuals.
Sources: Literature
Regression v0.326 VPS41 Zornitza Stark Marked gene: VPS41 as ready
Regression v0.326 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.78 ZNF469 Seb Lunke Marked gene: ZNF469 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.78 ZNF469 Seb Lunke Gene: znf469 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.78 ZNF469 Seb Lunke Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1, 229200 (3) to Brittle cornea syndrome 1, MIM #229200
Regression v0.326 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Regression v0.326 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.77 ZNF469 Seb Lunke Classified gene: ZNF469 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.77 ZNF469 Seb Lunke Gene: znf469 has been classified as Red List (Low Evidence).
Regression v0.325 VPS41 Zornitza Stark gene: VPS41 was added
gene: VPS41 was added to Regression. Sources: Literature
Mode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS41 were set to 32808683; 33764426
Phenotypes for gene: VPS41 were set to Dystonia; intellectual disability
Review for gene: VPS41 was set to GREEN
Added comment: 10 individuals from 6 unrelated families reported with a progressive neurodevelopmental disorder. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia developed in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.76 FAM161A Seb Lunke Marked gene: FAM161A as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.76 FAM161A Seb Lunke Gene: fam161a has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.76 FAM161A Seb Lunke Phenotypes for gene: FAM161A were changed from Retinitis pigmentosa 28, 606068 (3) to Retinitis pigmentosa 28, MIM #606068
Mackenzie's Mission_Reproductive Carrier Screening v0.75 FAM161A Seb Lunke Classified gene: FAM161A as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.75 FAM161A Seb Lunke Gene: fam161a has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.74 IMPG2 Seb Lunke Marked gene: IMPG2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.74 IMPG2 Seb Lunke Gene: impg2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.74 IMPG2 Seb Lunke Phenotypes for gene: IMPG2 were changed from Retinitis pigmentosa 56, 613581 (3) to Retinitis pigmentosa 56, MIM #613801
Mackenzie's Mission_Reproductive Carrier Screening v0.73 IMPG2 Seb Lunke Classified gene: IMPG2 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.73 IMPG2 Seb Lunke Gene: impg2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.72 PDE6B Seb Lunke Marked gene: PDE6B as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.72 PDE6B Seb Lunke Gene: pde6b has been classified as Red List (Low Evidence).
Dystonia and Chorea v0.179 VPS41 Zornitza Stark Publications for gene: VPS41 were set to 32808683
Mackenzie's Mission_Reproductive Carrier Screening v0.72 PDE6B Seb Lunke Phenotypes for gene: PDE6B were changed from Retinitis pigmentosa-40, 613801 (3) to Retinitis pigmentosa-40, MIM #613801
Dystonia and Chorea v0.178 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Dystonia and Chorea v0.178 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.177 VPS41 Zornitza Stark edited their review of gene: VPS41: Added comment: Another 9 individuals from 5 unrelated families reported. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia were present in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy.; Changed rating: GREEN; Changed publications: 32808683, 33764426
Mackenzie's Mission_Reproductive Carrier Screening v0.71 PDE6B Seb Lunke Classified gene: PDE6B as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.71 PDE6B Seb Lunke Gene: pde6b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3743 VPS41 Zornitza Stark Publications for gene: VPS41 were set to 32808683
Intellectual disability syndromic and non-syndromic v0.3742 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3742 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3741 VPS41 Zornitza Stark edited their review of gene: VPS41: Added comment: Another 9 individuals from 5 unrelated families reported.

Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia were present in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy.; Changed rating: GREEN; Changed publications: 32808683, 33764426
Mendeliome v0.7527 VPS41 Zornitza Stark Publications for gene: VPS41 were set to 32808683
Mendeliome v0.7526 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Mendeliome v0.7526 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3741 ANKRD17 Zornitza Stark Publications for gene: ANKRD17 were set to
Intellectual disability syndromic and non-syndromic v0.3740 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3740 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1075 ANKRD17 Zornitza Stark Publications for gene: ANKRD17 were set to
Genetic Epilepsy v0.1074 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Green List (high evidence)
Genetic Epilepsy v0.1074 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Green List (High Evidence).
Clefting disorders v0.115 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Clefting disorders v0.115 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7525 ANKRD17 Zornitza Stark Publications for gene: ANKRD17 were set to
Mendeliome v0.7524 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Green List (high evidence)
Mendeliome v0.7524 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Green List (High Evidence).
Clefting disorders v0.114 ANKRD17 Zornitza Stark Publications for gene: ANKRD17 were set to
Clefting disorders v0.113 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Green List (high evidence)
Clefting disorders v0.113 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Marked gene: JAG2 as ready
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Gene: jag2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Classified gene: JAG2 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Gene: jag2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.88 JAG2 Zornitza Stark gene: JAG2 was added
gene: JAG2 was added to Muscular dystrophy_Paediatric. Sources: Literature
Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAG2 were set to 33861953
Phenotypes for gene: JAG2 were set to muscular dystrophy
Review for gene: JAG2 was set to GREEN
Added comment: Whole-exome sequencing identified 13 families with rare homozygous or compound heterozygous JAG2 variants. Bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood. Serum creatine kinase (CK) levels were normal or mildly elevated. Muscle histology was primarily dystrophic. MRI of the lower extremities revealed a distinct, slightly asymmetric pattern of muscle involvement with cores of preserved and affected muscles in quadriceps and tibialis anterior, in some cases resembling patterns seen in POGLUT1-associated muscular dystrophy.
Sources: Literature
Mendeliome v0.7523 JAG2 Zornitza Stark Marked gene: JAG2 as ready
Mendeliome v0.7523 JAG2 Zornitza Stark Gene: jag2 has been classified as Green List (High Evidence).
Mendeliome v0.7523 JAG2 Zornitza Stark Classified gene: JAG2 as Green List (high evidence)
Mendeliome v0.7523 JAG2 Zornitza Stark Gene: jag2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.94 NEPRO Zornitza Stark Classified gene: NEPRO as Amber List (moderate evidence)
Skeletal dysplasia v0.94 NEPRO Zornitza Stark Gene: nepro has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.93 NEPRO Zornitza Stark gene: NEPRO was added
gene: NEPRO was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: NEPRO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEPRO were set to 26633546; 29620724; 31250547
Phenotypes for gene: NEPRO were set to Anauxetic dysplasia 3, MIM618853
Review for gene: NEPRO was set to AMBER
Added comment: PMIDs 26633546, 29620724: 2 families with the same homozygous missense variant, haplotype analysis confirmed the founder nature of the variant. PMID 31250547: 1 family with homozygous novel missense All 5 affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. No functional studies.
Sources: Literature
Mendeliome v0.7522 NEPRO Zornitza Stark Marked gene: NEPRO as ready
Mendeliome v0.7522 NEPRO Zornitza Stark Gene: nepro has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7522 NEPRO Zornitza Stark Classified gene: NEPRO as Amber List (moderate evidence)
Mendeliome v0.7522 NEPRO Zornitza Stark Gene: nepro has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.70 LRSAM1 Zornitza Stark reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: 20865121, 22012984, 22781092, 27686364, 33568173, 33414056, 30996334; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436, MONDO:0013753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7521 LRSAM1 Zornitza Stark Marked gene: LRSAM1 as ready
Mendeliome v0.7521 LRSAM1 Zornitza Stark Gene: lrsam1 has been classified as Green List (High Evidence).
Mendeliome v0.7521 LRSAM1 Zornitza Stark Phenotypes for gene: LRSAM1 were changed from to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753
Mendeliome v0.7520 LRSAM1 Zornitza Stark Publications for gene: LRSAM1 were set to
Mendeliome v0.7519 LRSAM1 Zornitza Stark Mode of inheritance for gene: LRSAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7518 LRSAM1 Zornitza Stark reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20865121, 22012984, 22781092, 27686364, 33568173, 33414056, 30996334; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436, MONDO:0013753; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7518 LITAF Zornitza Stark Marked gene: LITAF as ready
Mendeliome v0.7518 LITAF Zornitza Stark Gene: litaf has been classified as Green List (High Evidence).
Mendeliome v0.7518 LITAF Zornitza Stark Phenotypes for gene: LITAF were changed from to Charcot-Marie-Tooth disease, type 1C, MIM# 601098; MONDO:0010995
Mendeliome v0.7517 LITAF Zornitza Stark Publications for gene: LITAF were set to
Mendeliome v0.7516 LITAF Zornitza Stark Mode of inheritance for gene: LITAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7515 LITAF Zornitza Stark reviewed gene: LITAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 12525712, 19541485, 23359569, 32665875, 28211240; Phenotypes: Charcot-Marie-Tooth disease, type 1C, MIM# 601098, MONDO:0010995; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy v0.221 LSM7 Zornitza Stark Marked gene: LSM7 as ready
Leukodystrophy v0.221 LSM7 Zornitza Stark Gene: lsm7 has been classified as Red List (Low Evidence).
Leukodystrophy v0.221 LSM7 Zornitza Stark gene: LSM7 was added
gene: LSM7 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: LSM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034
Phenotypes for gene: LSM7 were set to Leukodystrophy; fetal death
Review for gene: LSM7 was set to RED
Added comment: Homozygous variant (p.Asp41Asn) identified in a child with leukodystrophy and a homozygous variant (p.Arg69Pro) identified in an individual that died in utero. In vitro and in vivo (zebrafish) assays supporting pathogenicity of the 2 variants.
Sources: Literature
Mendeliome v0.7515 SLC3A1 Zornitza Stark Marked gene: SLC3A1 as ready
Mendeliome v0.7515 SLC3A1 Zornitza Stark Gene: slc3a1 has been classified as Green List (High Evidence).
Mendeliome v0.7515 SLC3A1 Zornitza Stark Phenotypes for gene: SLC3A1 were changed from to Cystinuria, MIM# 220100
Mendeliome v0.7514 SLC3A1 Zornitza Stark Publications for gene: SLC3A1 were set to
Mendeliome v0.7513 SLC3A1 Zornitza Stark Mode of inheritance for gene: SLC3A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7512 SLC3A1 Zornitza Stark reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7512 LSM7 Bryony Thompson Marked gene: LSM7 as ready
Mendeliome v0.7512 LSM7 Bryony Thompson Gene: lsm7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3739 PTPN4 Bryony Thompson Marked gene: PTPN4 as ready
Intellectual disability syndromic and non-syndromic v0.3739 PTPN4 Bryony Thompson Gene: ptpn4 has been classified as Green List (High Evidence).
Mendeliome v0.7512 LSM7 Bryony Thompson Classified gene: LSM7 as Amber List (moderate evidence)
Mendeliome v0.7512 LSM7 Bryony Thompson Gene: lsm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7511 LSM7 Bryony Thompson gene: LSM7 was added
gene: LSM7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LSM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100034
Phenotypes for gene: LSM7 were set to Leukodystrophy; foetal death
Review for gene: LSM7 was set to AMBER
Added comment: Homozygous variant (p.Asp41Asn) identified in a child with leukodystrophy and a homozygous variant (p.Arg69Pro) identified in an individual that died in utero. In vitro and in vivo (zebrafish) assays supporting pathogenicity of the 2 variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3739 PTPN4 Bryony Thompson Classified gene: PTPN4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3739 PTPN4 Bryony Thompson Gene: ptpn4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3738 PTPN4 Bryony Thompson gene: PTPN4 was added
gene: PTPN4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PTPN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033
Phenotypes for gene: PTPN4 were set to Intellectual disability; developmental delay
Review for gene: PTPN4 was set to GREEN
Added comment: >3 unrelated probands and supporting mouse model
PMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity
PMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder
PMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines
DOI: https://doi.org/10.1016/j.xhgg.2021.100033 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo.
Sources: Literature
Mendeliome v0.7510 PTPN4 Bryony Thompson Marked gene: PTPN4 as ready
Mendeliome v0.7510 PTPN4 Bryony Thompson Gene: ptpn4 has been classified as Green List (High Evidence).
Mendeliome v0.7510 PTPN4 Bryony Thompson Classified gene: PTPN4 as Green List (high evidence)
Mendeliome v0.7510 PTPN4 Bryony Thompson Gene: ptpn4 has been classified as Green List (High Evidence).
Mendeliome v0.7509 PTPN4 Bryony Thompson gene: PTPN4 was added
gene: PTPN4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PTPN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033
Phenotypes for gene: PTPN4 were set to Intellectual disability; developmental delay
Review for gene: PTPN4 was set to GREEN
Added comment: >3 unrelated probands and supporting mouse model
PMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity
PMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder
PMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines
DOI: https://doi.org/10.1016/j.xhgg.2021.100033 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo.
Sources: Literature
Mendeliome v0.7508 SLC3A1 Michelle Torres reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25964309; Phenotypes: Cystinuria (MIM#220100) AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7508 WFS1 Zornitza Stark Publications for gene: WFS1 were set to 25211237
Leukodystrophy v0.220 POLR3K Zornitza Stark Tag founder tag was added to gene: POLR3K.
Mendeliome v0.7507 POLR3K Zornitza Stark Tag founder tag was added to gene: POLR3K.
Regression v0.324 POLR3K Zornitza Stark Tag founder tag was added to gene: POLR3K.
Regression v0.324 POLR3K Zornitza Stark Marked gene: POLR3K as ready
Regression v0.324 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Regression v0.324 POLR3K Zornitza Stark Classified gene: POLR3K as Amber List (moderate evidence)
Regression v0.324 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Regression v0.323 POLR3K Zornitza Stark gene: POLR3K was added
gene: POLR3K was added to Regression. Sources: Expert Review
Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3K were set to 30584594; 33659930
Phenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310
Review for gene: POLR3K was set to AMBER
Added comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes. Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life.
Sources: Expert Review
Mendeliome v0.7507 POLR3K Zornitza Stark Marked gene: POLR3K as ready
Mendeliome v0.7507 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7507 POLR3K Zornitza Stark Classified gene: POLR3K as Amber List (moderate evidence)
Mendeliome v0.7507 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7506 POLR3K Zornitza Stark gene: POLR3K was added
gene: POLR3K was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3K were set to 30584594; 33659930
Phenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310
Review for gene: POLR3K was set to AMBER
Added comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes. Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life.
Sources: Expert Review
Leukodystrophy v0.220 POLR3K Zornitza Stark Marked gene: POLR3K as ready
Leukodystrophy v0.220 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.220 POLR3K Zornitza Stark Classified gene: POLR3K as Amber List (moderate evidence)
Leukodystrophy v0.220 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.219 POLR3K Zornitza Stark gene: POLR3K was added
gene: POLR3K was added to Leukodystrophy - paediatric. Sources: Expert Review
Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3K were set to 30584594; 33659930
Phenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310
Review for gene: POLR3K was set to AMBER
Added comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes.

Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life.
Sources: Expert Review
Incidentalome v0.65 SNCB Eleanor Williams reviewed gene: SNCB: Rating: AMBER; Mode of pathogenicity: None; Publications: 33760043; Phenotypes: Dementia, Lewy body, OMIM:127750; Mode of inheritance: None
Mendeliome v0.7505 WFS1 Eleanor Williams reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33693650; Phenotypes: Wolfram syndrome 1, OMIM:222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Stationary Night Blindness v0.11 SAG Zornitza Stark Marked gene: SAG as ready
Congenital Stationary Night Blindness v0.11 SAG Zornitza Stark Gene: sag has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.11 SAG Zornitza Stark Phenotypes for gene: SAG were changed from Oguchi Disease; Retinitis pigmentosa 47; Congenital Stationary Night Blindness to Oguchi disease-1, MIM# 258100
Congenital Stationary Night Blindness v0.10 SAG Zornitza Stark Publications for gene: SAG were set to
Congenital Stationary Night Blindness v0.9 SAG Zornitza Stark reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670478, 9565049, 15234147; Phenotypes: Oguchi disease-1, MIM# 258100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7505 SAG Zornitza Stark Marked gene: SAG as ready
Mendeliome v0.7505 SAG Zornitza Stark Gene: sag has been classified as Green List (High Evidence).
Mendeliome v0.7505 SAG Zornitza Stark Phenotypes for gene: SAG were changed from to Oguchi disease-1, MIM# 258100; Retinitis pigmentosa 47, MIM# 613758
Mendeliome v0.7504 SAG Zornitza Stark Publications for gene: SAG were set to
Mendeliome v0.7503 SAG Zornitza Stark Mode of inheritance for gene: SAG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7502 SAG Zornitza Stark reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670478, 9565049, 15234147, 28549094, 33047631; Phenotypes: Oguchi disease-1, MIM# 258100, Retinitis pigmentosa 47, MIM# 613758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.91 SAG Zornitza Stark Marked gene: SAG as ready
Retinitis pigmentosa v0.91 SAG Zornitza Stark Gene: sag has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.91 SAG Zornitza Stark Phenotypes for gene: SAG were changed from Oguchi disease-1, 258100; Retinitis pigmentosa 47 to Retinitis pigmentosa 47, MIM# 613758
Retinitis pigmentosa v0.90 SAG Zornitza Stark Publications for gene: SAG were set to
Retinitis pigmentosa v0.89 SAG Zornitza Stark Classified gene: SAG as Amber List (moderate evidence)
Retinitis pigmentosa v0.89 SAG Zornitza Stark Gene: sag has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.88 SAG Zornitza Stark Tag founder tag was added to gene: SAG.
Retinitis pigmentosa v0.88 SAG Zornitza Stark reviewed gene: SAG: Rating: AMBER; Mode of pathogenicity: None; Publications: 28549094, 33047631; Phenotypes: Retinitis pigmentosa 47, MIM# 613758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3737 YWHAG Zornitza Stark Marked gene: YWHAG as ready
Intellectual disability syndromic and non-syndromic v0.3737 YWHAG Zornitza Stark Gene: ywhag has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3737 YWHAG Zornitza Stark Phenotypes for gene: YWHAG were changed from to Developmental and epileptic encephalopathy 56, (MIMI#617665)
Intellectual disability syndromic and non-syndromic v0.3736 YWHAG Zornitza Stark Publications for gene: YWHAG were set to
Intellectual disability syndromic and non-syndromic v0.3736 YWHAG Zornitza Stark Mode of inheritance for gene: YWHAG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1073 YWHAG Zornitza Stark Marked gene: YWHAG as ready
Genetic Epilepsy v0.1073 YWHAG Zornitza Stark Gene: ywhag has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1073 YWHAG Zornitza Stark Phenotypes for gene: YWHAG were changed from to Developmental and epileptic encephalopathy 56, (MIMI#617665)
Genetic Epilepsy v0.1072 YWHAG Zornitza Stark Publications for gene: YWHAG were set to 33393734; 33590706; 31926053; 33767733
Genetic Epilepsy v0.1072 YWHAG Zornitza Stark Publications for gene: YWHAG were set to 33393734; 33590706; 31926053; 33767733
Intellectual disability syndromic and non-syndromic v0.3735 YWHAG Zornitza Stark Mode of inheritance for gene: YWHAG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1072 YWHAG Zornitza Stark Publications for gene: YWHAG were set to
Intellectual disability syndromic and non-syndromic v0.3735 YWHAG Zornitza Stark Mode of inheritance for gene: YWHAG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3734 YWHAG Zornitza Stark reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33393734, 33590706, 31926053, 33767733; Phenotypes: Developmental and epileptic encephalopathy 56, (MIMI#617665); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1071 YWHAG Zornitza Stark Mode of inheritance for gene: YWHAG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1070 YWHAG Zornitza Stark reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33393734, 33590706, 31926053, 33767733; Phenotypes: Developmental and epileptic encephalopathy 56, (MIMI#617665); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7502 YWHAG Zornitza Stark Marked gene: YWHAG as ready
Mendeliome v0.7502 YWHAG Zornitza Stark Added comment: Comment when marking as ready: Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia
Mendeliome v0.7502 YWHAG Zornitza Stark Gene: ywhag has been classified as Green List (High Evidence).
Mendeliome v0.7502 YWHAG Zornitza Stark Phenotypes for gene: YWHAG were changed from to Developmental and epileptic encephalopathy 56, (MIMI#617665)
Mendeliome v0.7501 YWHAG Zornitza Stark Publications for gene: YWHAG were set to
Mendeliome v0.7500 YWHAG Zornitza Stark Mode of inheritance for gene: YWHAG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7499 IL6ST Zornitza Stark Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175; 32207811
Mendeliome v0.7498 OCRL Zornitza Stark Marked gene: OCRL as ready
Mendeliome v0.7498 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Mendeliome v0.7498 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from to Dent disease 2, MIM# 300555; Lowe syndrome , MIM#309000
Mendeliome v0.7497 OCRL Zornitza Stark Publications for gene: OCRL were set to
Mendeliome v0.7496 OCRL Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7495 OCRL Zornitza Stark reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 15627218, 9199559; Phenotypes: Dent disease 2, MIM# 300555, Lowe syndrome , MIM#309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7495 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551 to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551
Mendeliome v0.7494 APOL1 Zornitza Stark Publications for gene: APOL1 were set to 29470556; 20647424; 24206458; 20635188
Incidentalome v0.65 HTT Zornitza Stark Marked gene: HTT as ready
Incidentalome v0.65 HTT Zornitza Stark Gene: htt has been classified as Green List (High Evidence).
Incidentalome v0.65 HTT Zornitza Stark Phenotypes for gene: HTT were changed from to Huntington disease, MIM# 143100
Incidentalome v0.64 HTT Zornitza Stark Publications for gene: HTT were set to
Incidentalome v0.63 HTT Zornitza Stark Mode of inheritance for gene: HTT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.62 HTT Zornitza Stark Tag STR tag was added to gene: HTT.
Incidentalome v0.62 HTT Zornitza Stark reviewed gene: HTT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Huntington disease, MIM# 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3734 HTT Zornitza Stark Publications for gene: HTT were set to 26740508; 27329733
Intellectual disability syndromic and non-syndromic v0.3733 HTT Zornitza Stark edited their review of gene: HTT: Added comment: PMID 33432339: Jung et al 2021 - further characterisation of the family previously reported in PMID: 27329733 (Rodan et al 2016) - using WGS they confirm they are the most likely cause of the LOMARS phenotype and clarify their locations as NM_002111.8(HTT): c.8157T>A (p.Phe2719Leu) and NM_002111.8(HTT)c.4469+1G>A (Note there are incorrect Clinvar entries). Functional studies show them each to be a hypomorphic mutation, resulting in severe deficiency of huntingtin in compound heterozygotes.

Still only 2 cases reported to date ((PMID: 27329733/33432339 and 26740508) with biallelic LOF variants in HTT associated with the LOMARS phenotype although this study add further weight with some functional data.; Changed publications: 26740508, 27329733, 33432339
Mendeliome v0.7493 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from Premature aging syndrome, Penttinen type, 601812 to Basal ganglia calcification, idiopathic, 4, MIM# 615007; Kosaki overgrowth syndrome, MIM# 616592; Myeloproliferative disorder with eosinophilia, MIM# 131440; Myofibromatosis, infantile, 1, MIM# 228550; Premature ageing syndrome, Penttinen type, MIM# 601812
Mendeliome v0.7492 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to 30573803; 26279204
Mendeliome v0.7491 PDGFRB Zornitza Stark reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 4, MIM# 615007, Kosaki overgrowth syndrome, MIM# 616592, Myeloproliferative disorder with eosinophilia, MIM# 131440, Myofibromatosis, infantile, 1, MIM# 228550, Premature ageing syndrome, Penttinen type, MIM# 601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7491 YWHAG Ain Roesley reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33393734, 33590706, 31926053, 33767733; Phenotypes: Developmental and epileptic encephalopathy 56, (MIMI#617665); Mode of inheritance: None
Additional findings_Paediatric v0.217 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Additional findings_Paediatric v0.217 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.217 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from Short rib-polydactyly syndorme, type II to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Additional findings_Paediatric v0.216 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Additional findings_Paediatric v0.215 NEK1 Zornitza Stark Classified gene: NEK1 as Green List (high evidence)
Additional findings_Paediatric v0.215 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.214 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.147 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Renal Ciliopathies and Nephronophthisis v0.147 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.147 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Renal Ciliopathies and Nephronophthisis v0.146 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Renal Ciliopathies and Nephronophthisis v0.145 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.144 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.65 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Skeletal Ciliopathies v0.65 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v0.65 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Skeletal Ciliopathies v0.64 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Skeletal Ciliopathies v0.63 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.62 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.277 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Ciliopathies v0.277 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Ciliopathies v0.277 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Ciliopathies v0.276 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Ciliopathies v0.275 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.274 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7491 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Mendeliome v0.7491 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Mendeliome v0.7491 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892
Mendeliome v0.7490 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Mendeliome v0.7489 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7488 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520, Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7488 IL6ST Eleanor Williams reviewed gene: IL6ST: Rating: ; Mode of pathogenicity: None; Publications: 33517393; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7488 OCRL Eleanor Williams changed review comment from: PMID: 33517444 - Ramadesikan et al 2021 - studied the cellular effect of 7 OCRL1 (OCRL) variants identified in Lowe Syndrome patients in kidney epithelial cells. Differences in cell spreading, ciliogenesis, protein localization and degree of Golgi apparatus fragmentation were observed. The results help provide a framework to explains symptom heterogeneity and may help stratify patients.; to: Genotype/Phenotype information:
PMID: 33517444 - Ramadesikan et al 2021 - studied the cellular effect of 7 OCRL1 (OCRL) variants identified in Lowe Syndrome patients in kidney epithelial cells. Differences in cell spreading, ciliogenesis, protein localization and degree of Golgi apparatus fragmentation were observed. The results help provide a framework to explains symptom heterogeneity and may help stratify patients.
Mendeliome v0.7488 OCRL Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: Lowe syndrome, OMIM:309000; Mode of inheritance: None
Mendeliome v0.7488 APOL1 Eleanor Williams reviewed gene: APOL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33517446; Phenotypes: {Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551, {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551; Mode of inheritance: None
Incidentalome v0.62 HTT Eleanor Williams changed review comment from: PMID: 33432339 - Jung et al 2021 - further characterisation of the family previously reported in PMID: 27329733 (Rodan et al 2016) - using WGS they confirm they are the most likely cause of the LOMARS phenotype and clarify their locations as NM_002111.8(HTT): c.8157T>A (p.Phe2719Leu) and NM_002111.8(HTT)c.4469+1G>A (Note there are incorrect Clinvar entries). Functional studies show them each to be a hypomorphic mutation, resulting in severe deficiency of huntingtin in compound heterozygotes.

Still only 2 cases reported to date with biallelic LOF variants in HTT associated with the LOMARS phenotype although this study add further weight with some functional data.; to: PMID: 33432339 - Jung et al 2021 - further characterisation of the family previously reported in PMID: 27329733 (Rodan et al 2016) - using WGS they confirm they are the most likely cause of the LOMARS phenotype and clarify their locations as NM_002111.8(HTT): c.8157T>A (p.Phe2719Leu) and NM_002111.8(HTT)c.4469+1G>A (Note there are incorrect Clinvar entries). Functional studies show them each to be a hypomorphic mutation, resulting in severe deficiency of huntingtin in compound heterozygotes.

Still only 2 cases reported to date ((PMID: 27329733/33432339 and 26740508) with biallelic LOF variants in HTT associated with the LOMARS phenotype although this study add further weight with some functional data.
Incidentalome v0.62 HTT Eleanor Williams reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: None; Publications: 33432339, 27329733, 26740508; Phenotypes: Lopes-Maciel-Rodan syndrome OMIM:617435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7488 PDGFRB Eleanor Williams reviewed gene: PDGFRB: Rating: ; Mode of pathogenicity: None; Publications: 33450762; Phenotypes: Ocular pterygium-digital keloid dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7488 NEK1 Eleanor Williams reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33445179; Phenotypes: {Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Proteinuria v0.165 INF2 Zornitza Stark Marked gene: INF2 as ready
Proteinuria v0.165 INF2 Zornitza Stark Gene: inf2 has been classified as Green List (High Evidence).
Proteinuria v0.165 INF2 Zornitza Stark Phenotypes for gene: INF2 were changed from to Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455; Glomerulosclerosis, focal segmental, 5, MIM# 613237
Proteinuria v0.164 INF2 Zornitza Stark Publications for gene: INF2 were set to
Proteinuria v0.163 INF2 Zornitza Stark Mode of inheritance for gene: INF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.162 INF2 Zornitza Stark reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22187985, 30680856, 25943269, 20023659; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455, Glomerulosclerosis, focal segmental, 5, MIM# 613237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7488 INF2 Zornitza Stark Marked gene: INF2 as ready
Mendeliome v0.7488 INF2 Zornitza Stark Gene: inf2 has been classified as Green List (High Evidence).
Mendeliome v0.7488 INF2 Zornitza Stark Phenotypes for gene: INF2 were changed from to Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455; Glomerulosclerosis, focal segmental, 5, MIM# 613237
Mendeliome v0.7487 INF2 Zornitza Stark Publications for gene: INF2 were set to
Mendeliome v0.7486 INF2 Zornitza Stark Mode of inheritance for gene: INF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7485 INF2 Zornitza Stark reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22187985, 30680856, 25943269, 20023659; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455, Glomerulosclerosis, focal segmental, 5, MIM# 613237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.214 MED25 Zornitza Stark Marked gene: MED25 as ready
Additional findings_Paediatric v0.214 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.214 MED25 Zornitza Stark Phenotypes for gene: MED25 were changed from Charcot-Marie-Tooth disease to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Additional findings_Paediatric v0.213 MED25 Zornitza Stark Publications for gene: MED25 were set to
Additional findings_Paediatric v0.212 MED25 Zornitza Stark Classified gene: MED25 as Green List (high evidence)
Additional findings_Paediatric v0.212 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.211 MED25 Zornitza Stark reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7485 MED25 Zornitza Stark changed review comment from: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities.

7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.; to: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in intellectual disability, as well as variable eye, brain, cardiac, and palatal abnormalities.

7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.
Intellectual disability syndromic and non-syndromic v0.3733 MED25 Zornitza Stark Marked gene: MED25 as ready
Intellectual disability syndromic and non-syndromic v0.3733 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3733 MED25 Zornitza Stark Phenotypes for gene: MED25 were changed from to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Intellectual disability syndromic and non-syndromic v0.3732 MED25 Zornitza Stark Publications for gene: MED25 were set to
Intellectual disability syndromic and non-syndromic v0.3731 MED25 Zornitza Stark Mode of inheritance for gene: MED25 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3730 MED25 Zornitza Stark Tag founder tag was added to gene: MED25.
Intellectual disability syndromic and non-syndromic v0.3730 MED25 Zornitza Stark changed review comment from: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities. 7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.; to: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in intellectual disability, as well as variable eye, brain, cardiac, and palatal abnormalities. 7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.
Intellectual disability syndromic and non-syndromic v0.3730 MED25 Zornitza Stark reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7485 MED25 Zornitza Stark Marked gene: MED25 as ready
Mendeliome v0.7485 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Mendeliome v0.7485 MED25 Zornitza Stark Phenotypes for gene: MED25 were changed from to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Mendeliome v0.7484 MED25 Zornitza Stark Publications for gene: MED25 were set to
Mendeliome v0.7483 MED25 Zornitza Stark Mode of inheritance for gene: MED25 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7482 MED25 Zornitza Stark reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7482 HSPB1 Zornitza Stark Marked gene: HSPB1 as ready
Mendeliome v0.7482 HSPB1 Zornitza Stark Gene: hspb1 has been classified as Green List (High Evidence).
Mendeliome v0.7482 HSPB1 Zornitza Stark Phenotypes for gene: HSPB1 were changed from to Charcot Marie Tooth disease, axonal, type 2F, 606595; MONDO:0011687; Neuropathy, distal hereditary motor, type IIB, 608634; MONDO:0012080
Mendeliome v0.7481 HSPB1 Zornitza Stark Publications for gene: HSPB1 were set to
Mendeliome v0.7480 HSPB1 Zornitza Stark Mode of inheritance for gene: HSPB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7479 HSPB1 Zornitza Stark reviewed gene: HSPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21785432, 15122254, 18832141, 32639100, 32334137; Phenotypes: Charcot Marie Tooth disease, axonal, type 2F, 606595, MONDO:0011687, Neuropathy, distal hereditary motor, type IIB, 608634, MONDO:0012080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mackenzie's Mission_Reproductive Carrier Screening v0.70 HK1 Zornitza Stark reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19536174, 26822750; Phenotypes: Neuropathy, hereditary motor and sensory, Russe type , MIM#605285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7479 HINT1 Zornitza Stark Marked gene: HINT1 as ready
Mendeliome v0.7479 HINT1 Zornitza Stark Gene: hint1 has been classified as Green List (High Evidence).
Mendeliome v0.7479 HINT1 Zornitza Stark Phenotypes for gene: HINT1 were changed from to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646
Mendeliome v0.7478 HINT1 Zornitza Stark Publications for gene: HINT1 were set to
Mendeliome v0.7477 HINT1 Zornitza Stark Mode of inheritance for gene: HINT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7476 HINT1 Zornitza Stark reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22961002, 33663550, 33404983, 31848916; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200, Gamstorp-Wohlfart syndrome, MONDO:0007646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7476 GNB4 Zornitza Stark Marked gene: GNB4 as ready
Mendeliome v0.7476 GNB4 Zornitza Stark Gene: gnb4 has been classified as Green List (High Evidence).
Mendeliome v0.7476 GNB4 Zornitza Stark Phenotypes for gene: GNB4 were changed from to Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074
Mendeliome v0.7475 GNB4 Zornitza Stark Publications for gene: GNB4 were set to
Mendeliome v0.7474 GNB4 Zornitza Stark Mode of inheritance for gene: GNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7473 GNB4 Zornitza Stark reviewed gene: GNB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23434117, 28642160, 27908631; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185, MONDO:0014074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.69 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; MONDO:0010549
Deafness_IsolatedAndComplex v1.68 GJB1 Zornitza Stark Publications for gene: GJB1 were set to
Deafness_IsolatedAndComplex v1.67 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.7473 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Mendeliome v0.7473 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Mendeliome v0.7473 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; MONDO:0010549; reversible posterior leukoencephalopathy
Deafness_IsolatedAndComplex v1.66 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.7472 GJB1 Zornitza Stark Publications for gene: GJB1 were set to
Mendeliome v0.7471 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 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 v0.7470 NEPRO Chern Lim gene: NEPRO was added
gene: NEPRO was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NEPRO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEPRO were set to 26633546; 29620724; 31250547
Phenotypes for gene: NEPRO were set to Anauxetic dysplasia 3, MIM618853
Review for gene: NEPRO was set to AMBER
Added comment: PMIDs 26633546, 29620724: 2 families with the same homozygous missense variant, haplotype analysis confirmed the founder nature of the variant.

PMID 31250547: 1 family with homozygous novel missense

All 5 affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. No functional studies.
Sources: Literature
Deafness_IsolatedAndComplex v1.65 GJB1 Zornitza Stark Classified gene: GJB1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.65 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Mendeliome v0.7470 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8266101, 17100997, 17353473, 31842800; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800, MONDO:0010549, reversible posterior leukoencephalopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.622 MT-RNR1 Zornitza Stark Publications for gene: MT-RNR1 were set to
Mitochondrial disease v0.621 MT-RNR1 Chern Lim reviewed gene: MT-RNR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301595; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Mendeliome v0.7470 FGD4 Zornitza Stark Marked gene: FGD4 as ready
Mendeliome v0.7470 FGD4 Zornitza Stark Gene: fgd4 has been classified as Green List (High Evidence).
Mendeliome v0.7470 FGD4 Zornitza Stark Phenotypes for gene: FGD4 were changed from to Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250
Mendeliome v0.7469 FGD4 Zornitza Stark Publications for gene: FGD4 were set to
Mendeliome v0.7468 FGD4 Zornitza Stark Mode of inheritance for gene: FGD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7467 FGD4 Zornitza Stark reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564959, 31152969, 28847448, 28543957; Phenotypes: Charcot Marie Tooth disease, type 4H, 609311, MONDO:0012250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autonomic neuropathy v0.44 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 to Dysautonomia, familial, MIM# 223900; Riley-Day syndrome MONDO:0009131
Autonomic neuropathy v0.43 ELP1 Zornitza Stark Publications for gene: ELP1 were set to
Autonomic neuropathy v0.42 ELP1 Zornitza Stark reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179008, 11179021, 17644305; Phenotypes: Dysautonomia, familial, MIM# 223900, Riley-Day syndrome MONDO:0009131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7467 COX6A1 Zornitza Stark Marked gene: COX6A1 as ready
Mendeliome v0.7467 COX6A1 Zornitza Stark Gene: cox6a1 has been classified as Green List (High Evidence).
Mendeliome v0.7467 COX6A1 Zornitza Stark Phenotypes for gene: COX6A1 were changed from to Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039; MONDO:0014467
Mendeliome v0.7466 COX6A1 Zornitza Stark Publications for gene: COX6A1 were set to
Mendeliome v0.7465 COX6A1 Zornitza Stark Mode of inheritance for gene: COX6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7464 COX6A1 Zornitza Stark reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152455, 26302975, 25152455; Phenotypes: Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039, MONDO:0014467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Marked gene: COX6A1 as ready
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Gene: cox6a1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Phenotypes for gene: COX6A1 were changed from to Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039; MONDO:0014467
Mitochondrial disease v0.620 COX6A1 Zornitza Stark Publications for gene: COX6A1 were set to
Mitochondrial disease v0.619 COX6A1 Zornitza Stark Mode of inheritance for gene: COX6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.618 COX6A1 Zornitza Stark reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152455, 26302975, 25152455; Phenotypes: Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039, MONDO:0014467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7464 JAG2 Belinda Chong gene: JAG2 was added
gene: JAG2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAG2 were set to PMID: 33861953
Phenotypes for gene: JAG2 were set to muscular dystrophy
Review for gene: JAG2 was set to GREEN
Added comment: Whole-exome sequencing identified 13 families with rare homozygous or compound heterozygous JAG2 variants. Bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood. Serum creatine kinase (CK) levels were normal or mildly elevated. Muscle histology was primarily dystrophic. MRI of the lower extremities revealed a distinct, slightly asymmetric pattern of muscle involvement with cores of preserved and affected muscles in quadriceps and tibialis anterior, in some cases resembling patterns seen in POGLUT1-associated muscular dystrophy.
Sources: Literature
Clefting disorders v0.112 ANKRD17 Paul De Fazio reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3730 ANKRD17 Paul De Fazio reviewed gene: ANKRD17: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Genetic Epilepsy v0.1070 ANKRD17 Paul De Fazio changed review comment from: 34 predominantly LoF variants reported - 29 de novo, 1 inherited from an affected parent, 1 inherited from a suspected mosaic parent. Main phenotypes were dev delay/ID, motor delay, and speech delay.; to: 34 predominantly LoF variants reported - 29 de novo, 1 inherited from an affected parent, 1 inherited from a suspected mosaic parent. Main phenotypes were dev delay/ID, motor delay, and speech delay. Epilepsy reported in 9/33.
Mendeliome v0.7464 ANKRD17 Paul De Fazio reviewed gene: ANKRD17: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: None; Current diagnostic: yes
Genetic Epilepsy v0.1070 ANKRD17 Paul De Fazio reviewed gene: ANKRD17: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.7464 VPS41 Kristin Rigbye edited their review of gene: VPS41: Changed phenotypes: Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Mendeliome v0.7464 VPS41 Kristin Rigbye changed review comment from: "Five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function."; to: "Five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function."

"Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia were present in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay. Two siblings further presented with therapy-resistant epilepsy. No major dysmorphic features were found. In two individuals, retinal pigment alterations were noticed. Brain MRI revealed mild cerebellar atrophy and vermian atrophy without other major structural abnormalities in most affected individuals while in one case (Subject 9) bilateral hyperintensities at the nucleus caudatus area were noted. No hearing or vision problems were noted and in cases where nerve conduction studies were performed, these were normal. Transmission electron microscopy (TEM) on peripheral blood lymphocytes from Subject 2 and lymphoblastoid cells from Subject 3 revealed more multilayered vesicles compared to control cells."
Intellectual disability syndromic and non-syndromic v0.3730 SIN3B Elena Savva gene: SIN3B was added
gene: SIN3B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SIN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIN3B were set to PMID: 33811806
Phenotypes for gene: SIN3B were set to Syndromic intellectual disability/autism spectrum disorder
Review for gene: SIN3B was set to GREEN
Added comment: PMID: 33811806
- 9 affected patients, all de novo (2 PTCs, 2 missense, multigenic CNVs)
- syndrome hallmarked by intellectual disability, developmental delay, and dysmorphic facial features with variably penetrant ASD, congenital malformations, corpus callosum defects, and impaired growth.
- All SNV carriers had mild/mod ID
Sources: Literature
Mendeliome v0.7464 SIN3B Elena Savva gene: SIN3B was added
gene: SIN3B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SIN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIN3B were set to PMID: 33811806
Phenotypes for gene: SIN3B were set to Syndromic intellectual disability/autism spectrum disorder
Review for gene: SIN3B was set to GREEN
Added comment: PMID: 33811806
- 9 affected patients, all de novo (2 PTCs, 2 missense, multigenic CNVs)
- syndrome hallmarked by intellectual disability, developmental delay, and dysmorphic facial features with variably penetrant ASD, congenital malformations, corpus callosum defects, and impaired growth.
- CNVs encompassing the gene have been found
Sources: Literature
Mendeliome v0.7464 DPYSL5 Michelle Torres gene: DPYSL5 was added
gene: DPYSL5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Review for gene: DPYSL5 was set to GREEN
Added comment: Nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. The recurrent de novo p.Glu41Lys was found in eight unrelated patients, and a p.Gly47Arg variant was identified in one individual from the first family reported with Ritscher-Schinzel syndrome. Both impaired DPYSL5 function on dendritic outgrowth regulation by preventing the formation of the ternary complex with MAP2 and βIII-tubulin, ultimately leading to abnormal brain development
Sources: Literature
Mendeliome v0.7464 VPS41 Kristin Rigbye reviewed gene: VPS41: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33764426; Phenotypes: Progressive neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7464 SCD Elena Savva gene: SCD was added
gene: SCD was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCD were set to PMID: 33690217; 10899171
Phenotypes for gene: SCD were set to Adrenoleukodystrophy
Review for gene: SCD was set to RED
Added comment: PMID: 33690217 zebrafish K/O mimics the motor phenotype of ALD zebrafish

PMID: 10899171 null mouse was deficient in hepatic cholesterol esters and triglycerides despite the presence of normal activities of acyl-CoA, very low levels of triglycerides
Sources: Literature
Mendeliome v0.7464 CDC40 Zornitza Stark Phenotypes for gene: CDC40 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 15, MIM# 619302; microcephaly; seizures
Mendeliome v0.7463 CDC40 Zornitza Stark edited their review of gene: CDC40: Changed phenotypes: Pontocerebellar hypoplasia, type 15, MIM# 619302, microcephaly, seizures
Cerebellar and Pontocerebellar Hypoplasia v1.8 CDC40 Zornitza Stark Phenotypes for gene: CDC40 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 15, MIM# 619302; microcephaly; seizures
Cerebellar and Pontocerebellar Hypoplasia v1.7 CDC40 Zornitza Stark edited their review of gene: CDC40: Changed phenotypes: Pontocerebellar hypoplasia, type 15, MIM# 619302, microcephaly, seizures
Intellectual disability syndromic and non-syndromic v0.3730 PPIL1 Zornitza Stark Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Intellectual disability syndromic and non-syndromic v0.3729 PPIL1 Zornitza Stark edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures
Genetic Epilepsy v0.1070 PPIL1 Zornitza Stark Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Genetic Epilepsy v0.1069 PPIL1 Zornitza Stark edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures
Microcephaly v1.9 PPIL1 Zornitza Stark Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Microcephaly v1.8 PPIL1 Zornitza Stark edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures
Mendeliome v0.7463 PPIL1 Zornitza Stark Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Mendeliome v0.7462 PPIL1 Zornitza Stark edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures
Cerebellar and Pontocerebellar Hypoplasia v1.7 PPIL1 Zornitza Stark Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Cerebellar and Pontocerebellar Hypoplasia v1.6 PPIL1 Zornitza Stark edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures
Mendeliome v0.7462 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Mendeliome v0.7462 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Mendeliome v0.7462 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291
Mendeliome v0.7461 BICD2 Zornitza Stark Publications for gene: BICD2 were set to
Mendeliome v0.7460 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7459 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664116, 23664119, 23664120, 27751653, 28635954, 30054298, 29528393; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, MONDO:0014121, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3729 SMARCA2 Zornitza Stark Phenotypes for gene: SMARCA2 were changed from Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome, MIM#619293
Mendeliome v0.7459 SMARCA2 Zornitza Stark Phenotypes for gene: SMARCA2 were changed from Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome, MIM#619293
Blepharophimosis v0.28 SMARCA2 Zornitza Stark Phenotypes for gene: SMARCA2 were changed from Blepharophimosis-intellectual disability syndrome (BIS) to Blepharophimosis-intellectual disability syndrome (BIS), MIM#619293
Dystonia and Chorea v0.177 VPS16 Zornitza Stark Phenotypes for gene: VPS16 were changed from Dystonia to Dystonia 30, MIM#619291
Dystonia and Chorea v0.176 VPS16 Zornitza Stark edited their review of gene: VPS16: Changed phenotypes: Dystonia 30, MIM#619291
Mendeliome v0.7458 VPS16 Zornitza Stark Phenotypes for gene: VPS16 were changed from Dystonia to Dystonia 30, MIM#619291
Mendeliome v0.7457 VPS16 Zornitza Stark edited their review of gene: VPS16: Changed phenotypes: Dystonia 30, MIM#619291
Intellectual disability syndromic and non-syndromic v0.3728 KCNQ5 Zornitza Stark Marked gene: KCNQ5 as ready
Intellectual disability syndromic and non-syndromic v0.3728 KCNQ5 Zornitza Stark Gene: kcnq5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3728 KCNQ5 Zornitza Stark Phenotypes for gene: KCNQ5 were changed from to Mental retardation, autosomal dominant 46, MIM# 617601
Intellectual disability syndromic and non-syndromic v0.3727 KCNQ5 Zornitza Stark Publications for gene: KCNQ5 were set to
Intellectual disability syndromic and non-syndromic v0.3726 KCNQ5 Zornitza Stark Mode of inheritance for gene: KCNQ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3725 KCNQ5 Zornitza Stark reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669405, 30359776; Phenotypes: Mental retardation, autosomal dominant 46, MIM# 617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1069 KCNQ5 Zornitza Stark Marked gene: KCNQ5 as ready
Genetic Epilepsy v0.1069 KCNQ5 Zornitza Stark Gene: kcnq5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1069 KCNQ5 Zornitza Stark Phenotypes for gene: KCNQ5 were changed from to Mental retardation, autosomal dominant 46, MIM# 617601
Genetic Epilepsy v0.1068 KCNQ5 Zornitza Stark Publications for gene: KCNQ5 were set to
Genetic Epilepsy v0.1067 KCNQ5 Zornitza Stark Mode of inheritance for gene: KCNQ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1066 KCNQ5 Zornitza Stark reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669405, 30359776; Phenotypes: Mental retardation, autosomal dominant 46, MIM# 617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7457 KCNQ5 Zornitza Stark Marked gene: KCNQ5 as ready
Mendeliome v0.7457 KCNQ5 Zornitza Stark Gene: kcnq5 has been classified as Green List (High Evidence).
Mendeliome v0.7457 KCNQ5 Zornitza Stark Phenotypes for gene: KCNQ5 were changed from to Mental retardation, autosomal dominant 46, MIM# 617601
Mendeliome v0.7456 KCNQ5 Zornitza Stark Publications for gene: KCNQ5 were set to
Mendeliome v0.7455 KCNQ5 Zornitza Stark Mode of inheritance for gene: KCNQ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7454 KCNQ5 Zornitza Stark reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669405, 30359776; Phenotypes: Mental retardation, autosomal dominant 46, MIM# 617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7454 KCNK9 Zornitza Stark Marked gene: KCNK9 as ready
Mendeliome v0.7454 KCNK9 Zornitza Stark Gene: kcnk9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3725 KCNK9 Zornitza Stark Marked gene: KCNK9 as ready
Intellectual disability syndromic and non-syndromic v0.3725 KCNK9 Zornitza Stark Gene: kcnk9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3725 KCNK9 Zornitza Stark Phenotypes for gene: KCNK9 were changed from to Birk-Barel syndrome, MIM# 612292; MONDO:0012856
Mendeliome v0.7454 KCNK9 Zornitza Stark Phenotypes for gene: KCNK9 were changed from to Birk-Barel syndrome, MIM# 612292; MONDO:0012856
Mendeliome v0.7453 KCNK9 Zornitza Stark Publications for gene: KCNK9 were set to
Mendeliome v0.7452 KCNK9 Zornitza Stark Mode of inheritance for gene: KCNK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.7451 KCNK9 Zornitza Stark reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28333430, 27151206, 24980697, 18678320; Phenotypes: Birk-Barel syndrome, MIM# 612292, MONDO:0012856; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.3724 KCNK9 Zornitza Stark Publications for gene: KCNK9 were set to
Intellectual disability syndromic and non-syndromic v0.3723 KCNK9 Zornitza Stark Mode of inheritance for gene: KCNK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.3722 KCNK9 Zornitza Stark edited their review of gene: KCNK9: Changed phenotypes: Birk-Barel syndrome, MIM# 612292, MONDO:0012856
Intellectual disability syndromic and non-syndromic v0.3722 KCNK9 Zornitza Stark reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28333430, 27151206, 24980697, 18678320; Phenotypes: Birk-Barel syndrome, MIM# 612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.7451 KCNK9 Ain Roesley reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 18678320, 27151206; Phenotypes: Birk-Barel syndrome (MIM#612292); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.7451 ATL1 Zornitza Stark edited their review of gene: ATL1: Changed phenotypes: Neuropathy, hereditary sensory, type ID , MIM#613708, MONDO:0013381, Spastic paraplegia 3A, MIM 182600, Hereditary spastic paraplegia, AR
Mendeliome v0.7451 ATL1 Zornitza Stark Marked gene: ATL1 as ready
Mendeliome v0.7451 ATL1 Zornitza Stark Gene: atl1 has been classified as Green List (High Evidence).
Mendeliome v0.7451 ATL1 Zornitza Stark Phenotypes for gene: ATL1 were changed from Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381 to Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381; Spastic paraplegia 3A, MIM 182600; Hereditary spastic paraplegia, AR
Mendeliome v0.7450 ATL1 Zornitza Stark Phenotypes for gene: ATL1 were changed from to Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381
Mendeliome v0.7449 ATL1 Zornitza Stark Publications for gene: ATL1 were set to
Mendeliome v0.7448 ATL1 Zornitza Stark Mode of inheritance for gene: ATL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7447 ATL1 Zornitza Stark reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194679, 24604904, 22340599, 16401858, 16537571, 17657515, 28396731, 24473461, 26888483; Phenotypes: Neuropathy, hereditary sensory, type ID , MIM#613708, MONDO:0013381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7447 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Mendeliome v0.7447 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Mendeliome v0.7447 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829
Mendeliome v0.7446 COQ2 Zornitza Stark Publications for gene: COQ2 were set to
Mendeliome v0.7445 COQ2 Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7444 COQ2 Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17332895, 17855635; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM# 607426, MONDO:0011829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.618 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Mitochondrial disease v0.618 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.618 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829
Mitochondrial disease v0.617 COQ2 Zornitza Stark Publications for gene: COQ2 were set to
Mitochondrial disease v0.616 COQ2 Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.615 COQ2 Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17332895, 17855635; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM# 607426, MONDO:0011829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7444 COA6 Zornitza Stark Marked gene: COA6 as ready
Mendeliome v0.7444 COA6 Zornitza Stark Gene: coa6 has been classified as Green List (High Evidence).
Mendeliome v0.7444 COA6 Zornitza Stark Phenotypes for gene: COA6 were changed from to Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Cardioencephalomyopathy, fatal infantile, MONDO:0014668
Mendeliome v0.7443 COA6 Zornitza Stark Publications for gene: COA6 were set to
Mendeliome v0.7442 COA6 Zornitza Stark Mode of inheritance for gene: COA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7441 COA6 Zornitza Stark reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24549041, 25339201, 31851937, 26160915; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501, Cardioencephalomyopathy, fatal infantile, MONDO:0014668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.615 COA6 Zornitza Stark Marked gene: COA6 as ready
Mitochondrial disease v0.615 COA6 Zornitza Stark Gene: coa6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.615 COA6 Zornitza Stark Phenotypes for gene: COA6 were changed from to Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Cardioencephalomyopathy, fatal infantile, MONDO:0014668
Mitochondrial disease v0.614 COA6 Zornitza Stark Publications for gene: COA6 were set to
Mitochondrial disease v0.613 COA6 Zornitza Stark Mode of inheritance for gene: COA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.612 COA6 Zornitza Stark edited their review of gene: COA6: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501, Cardioencephalomyopathy, fatal infantile, MONDO:0014668
Mitochondrial disease v0.612 COA6 Zornitza Stark reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24549041, 25339201, 31851937, 26160915; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7441 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Mendeliome v0.7441 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Mendeliome v0.7441 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from to Combined oxidative phosphorylation deficiency 27, MIM# 616672; MONDO:0014728
Mendeliome v0.7440 CARS2 Zornitza Stark Publications for gene: CARS2 were set to
Mendeliome v0.7439 CARS2 Zornitza Stark Mode of inheritance for gene: CARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7438 CARS2 Zornitza Stark reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361775, 25787132, 30139652; Phenotypes: Combined oxidative phosphorylation deficiency 27, MIM# 616672, MONDO:0014728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.612 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from Combined oxidative phosphorylation deficiency 27, MIM# 616672 to Combined oxidative phosphorylation deficiency 27, MIM# 616672; MONDO:0014728
Mitochondrial disease v0.611 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Mitochondrial disease v0.611 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.611 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from to Combined oxidative phosphorylation deficiency 27, MIM# 616672
Mitochondrial disease v0.610 CARS2 Zornitza Stark Publications for gene: CARS2 were set to
Mitochondrial disease v0.609 CARS2 Zornitza Stark Mode of inheritance for gene: CARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.608 CARS2 Zornitza Stark reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361775, 25787132, 30139652; Phenotypes: Combined oxidative phosphorylation deficiency 27, MIM# 616672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.71 PPP2R5C Zornitza Stark Marked gene: PPP2R5C as ready
Macrocephaly_Megalencephaly v0.71 PPP2R5C Zornitza Stark Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3722 PPP2R5C Zornitza Stark Marked gene: PPP2R5C as ready
Intellectual disability syndromic and non-syndromic v0.3722 PPP2R5C Zornitza Stark Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7438 PPP2R5C Zornitza Stark Marked gene: PPP2R5C as ready
Mendeliome v0.7438 PPP2R5C Zornitza Stark Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1066 TBC1D2B Zornitza Stark Marked gene: TBC1D2B as ready
Genetic Epilepsy v0.1066 TBC1D2B Zornitza Stark Gene: tbc1d2b has been classified as Green List (High Evidence).
Mendeliome v0.7438 PPP2R5C Sue White Classified gene: PPP2R5C as Amber List (moderate evidence)
Mendeliome v0.7438 PPP2R5C Sue White Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7437 PPP2R5C Sue White gene: PPP2R5C was added
gene: PPP2R5C was added to Mendeliome. Sources: Research
Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP2R5C were set to macrocephaly; intellectual disability
Penetrance for gene: PPP2R5C were set to Complete
Review for gene: PPP2R5C was set to AMBER
Added comment: Emerging unpublished evidence of monoallelic missense variants causing intellectual disability and macrocephaly
Sources: Research
Intellectual disability syndromic and non-syndromic v0.3722 PPP2R5C Sue White Classified gene: PPP2R5C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3722 PPP2R5C Sue White Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.608 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Mitochondrial disease v0.608 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3721 PPP2R5C Sue White gene: PPP2R5C was added
gene: PPP2R5C was added to Intellectual disability syndromic and non-syndromic. Sources: Research
Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP2R5C were set to macrocephaly; intellectual disability
Penetrance for gene: PPP2R5C were set to Complete
Review for gene: PPP2R5C was set to AMBER
Added comment: Emerging unpublished evidence of monoallelic missense variants causing intellectual disability and macrocephaly
Sources: Research
Macrocephaly_Megalencephaly v0.71 PPP2R5C Sue White Classified gene: PPP2R5C as Amber List (moderate evidence)
Macrocephaly_Megalencephaly v0.71 PPP2R5C Sue White Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.70 PPP2R5C Sue White gene: PPP2R5C was added
gene: PPP2R5C was added to Macrocephaly_Megalencephaly. Sources: Research
Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP2R5C were set to macrocephaly; intellectual disability
Penetrance for gene: PPP2R5C were set to Complete
Review for gene: PPP2R5C was set to AMBER
Added comment: Emerging unpublished evidence of monoallelic missense variants causing intellectual disability and macrocephaly
Sources: Research
Regression v0.322 AAAS Zornitza Stark Marked gene: AAAS as ready
Regression v0.322 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Regression v0.322 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Regression v0.321 AAAS Zornitza Stark Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.320 AAAS Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype of this multi-system syndromic condition.
Sources: Expert list; to: The association of adrenal and neurologic disease is similar to that in X-linked adrenoleukodystrophy, and neurological features are progressive.
Sources: Expert list
Mendeliome v0.7436 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Mendeliome v0.7436 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Mendeliome v0.7436 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anaemia, complementation group P, MIM# 613951; MONDO:0013499
Mendeliome v0.7435 SLX4 Zornitza Stark Publications for gene: SLX4 were set to
Mendeliome v0.7434 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7433 SLX4 Zornitza Stark reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21240275, 21240277; Phenotypes: Fanconi anaemia, complementation group P, MIM# 613951, MONDO:0013499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.608 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Mitochondrial disease v0.608 ACADSB Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence).
Mendeliome v0.7433 NLRP2 Zornitza Stark Publications for gene: NLRP2 were set to 30877238
Mendeliome v0.7432 NLRP2 Sarah Leigh reviewed gene: NLRP2: Rating: ; Mode of pathogenicity: None; Publications: 19300480, 29574422, 33090377; Phenotypes: ; Mode of inheritance: None
Dystonia and Chorea v0.176 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Dystonia and Chorea v0.176 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.176 COQ8A Zornitza Stark Classified gene: COQ8A as Green List (high evidence)
Dystonia and Chorea v0.176 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.175 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8A were set to 32337771
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM# 612016
Review for gene: COQ8A was set to GREEN
Added comment: PMID 32337771: cohort of 59 individuals. COQ8A-ataxia presented as variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus as presenting symptoms.
Sources: Expert list
Regression v0.319 SGCE Zornitza Stark Marked gene: SGCE as ready
Regression v0.319 SGCE Zornitza Stark Gene: sgce has been classified as Red List (Low Evidence).
Regression v0.319 SGCE Zornitza Stark Phenotypes for gene: SGCE were changed from to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044
Regression v0.318 SGCE Zornitza Stark Mode of inheritance for gene: SGCE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Regression v0.317 SGCE Zornitza Stark Classified gene: SGCE as Red List (low evidence)
Regression v0.317 SGCE Zornitza Stark Gene: sgce has been classified as Red List (Low Evidence).
Regression v0.316 SGCE Zornitza Stark reviewed gene: SGCE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia-11, myoclonic, MIM# 159900, MONDO:0008044; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.7432 SGCE Zornitza Stark Marked gene: SGCE as ready
Mendeliome v0.7432 SGCE Zornitza Stark Gene: sgce has been classified as Green List (High Evidence).
Mendeliome v0.7432 SGCE Zornitza Stark Phenotypes for gene: SGCE were changed from to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044
Mendeliome v0.7431 SGCE Zornitza Stark Publications for gene: SGCE were set to
Mendeliome v0.7430 SGCE Zornitza Stark Mode of inheritance for gene: SGCE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.7429 SGCE Zornitza Stark reviewed gene: SGCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528394, 12821748, 16227522; Phenotypes: Dystonia-11, myoclonic, MIM# 159900, MONDO:0008044; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Regression v0.316 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Regression v0.316 PRKRA Zornitza Stark Gene: prkra has been classified as Red List (Low Evidence).
Regression v0.316 PRKRA Zornitza Stark Phenotypes for gene: PRKRA were changed from to Dystonia 16, MIM# 612067; MONDO:0012789
Regression v0.315 PRKRA Zornitza Stark Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.314 PRKRA Zornitza Stark Classified gene: PRKRA as Red List (low evidence)
Regression v0.314 PRKRA Zornitza Stark Gene: prkra has been classified as Red List (Low Evidence).
Regression v0.313 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7429 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Mendeliome v0.7429 PRKRA Zornitza Stark Gene: prkra has been classified as Green List (High Evidence).
Mendeliome v0.7429 PRKRA Zornitza Stark Phenotypes for gene: PRKRA were changed from to Dystonia 16, MIM# 612067; MONDO:0012789
Mendeliome v0.7428 PRKRA Zornitza Stark Publications for gene: PRKRA were set to
Mendeliome v0.7427 PRKRA Zornitza Stark Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7426 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18243799, 25142429, 29279192; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7426 KMT2B Zornitza Stark Marked gene: KMT2B as ready
Mendeliome v0.7426 KMT2B Zornitza Stark Gene: kmt2b has been classified as Green List (High Evidence).
Mendeliome v0.7426 KMT2B Zornitza Stark Phenotypes for gene: KMT2B were changed from to Dystonia 28, childhood-onset 617284; MONDO:0015004
Mendeliome v0.7425 KMT2B Zornitza Stark Publications for gene: KMT2B were set to
Mendeliome v0.7424 KMT2B Zornitza Stark Mode of inheritance for gene: KMT2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7423 KMT2B Zornitza Stark reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27839873, 27992417; Phenotypes: Dystonia 28, childhood-onset 617284, MONDO:0015004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.313 CIZ1 Zornitza Stark Marked gene: CIZ1 as ready
Regression v0.313 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Red List (Low Evidence).
Regression v0.313 CIZ1 Zornitza Stark Phenotypes for gene: CIZ1 were changed from to Dystonia 23 MIM#614860
Regression v0.312 CIZ1 Zornitza Stark Mode of inheritance for gene: CIZ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.311 CIZ1 Zornitza Stark Classified gene: CIZ1 as Red List (low evidence)
Regression v0.311 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Red List (Low Evidence).
Regression v0.310 CIZ1 Zornitza Stark reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 23 MIM#614860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7423 CIZ1 Zornitza Stark Marked gene: CIZ1 as ready
Mendeliome v0.7423 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7423 CIZ1 Zornitza Stark Phenotypes for gene: CIZ1 were changed from to Dystonia 23 MIM#614860
Mendeliome v0.7422 CIZ1 Zornitza Stark Publications for gene: CIZ1 were set to
Mendeliome v0.7421 CIZ1 Zornitza Stark Mode of inheritance for gene: CIZ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7420 CIZ1 Zornitza Stark Classified gene: CIZ1 as Amber List (moderate evidence)
Mendeliome v0.7420 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7419 CIZ1 Zornitza Stark reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27163549, 29154038, 22447717; Phenotypes: Dystonia 23 MIM#614860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7419 NPAS2 Zornitza Stark Marked gene: NPAS2 as ready
Mendeliome v0.7419 NPAS2 Zornitza Stark Gene: npas2 has been classified as Red List (Low Evidence).
Mendeliome v0.7419 NPAS2 Zornitza Stark Phenotypes for gene: NPAS2 were changed from to Non-obstructive azoospermia
Mendeliome v0.7418 NPAS2 Zornitza Stark Publications for gene: NPAS2 were set to
Mendeliome v0.7417 NPAS2 Zornitza Stark Mode of inheritance for gene: NPAS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7416 NPAS2 Zornitza Stark Classified gene: NPAS2 as Red List (low evidence)
Mendeliome v0.7416 NPAS2 Zornitza Stark Gene: npas2 has been classified as Red List (Low Evidence).
Regression v0.310 PNKD Zornitza Stark Marked gene: PNKD as ready
Regression v0.310 PNKD Zornitza Stark Gene: pnkd has been classified as Red List (Low Evidence).
Regression v0.310 PNKD Zornitza Stark Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326
Regression v0.309 PNKD Zornitza Stark Publications for gene: PNKD were set to
Regression v0.308 PNKD Zornitza Stark Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.307 PNKD Zornitza Stark Classified gene: PNKD as Red List (low evidence)
Regression v0.307 PNKD Zornitza Stark Gene: pnkd has been classified as Red List (Low Evidence).
Regression v0.306 PNKD Zornitza Stark reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: None; Publications: 15262732, 15496428, 15824259, 19124534, 21487022; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800, MONDO:0007326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7415 NPAS2 Alison Compton changed review comment from: The brothers with NOA from consanguineous Turkish family, homozygous NM_002518.3(NPAS2) c.1363C>G; p.(Pro455Ala) variant identified. Heterozygous in mother, and fertile brother and sister. Not present in 1000 Genomes, EVS or gnomAD. Predicted to be “benign” by Polyphen2, and "neutral" by both SIFT and Mutation taster. Not predicted to in a functional domain. Not listed as a disease-gene in OMIM, no other 'pathogenic' or 'likely pathogenic' variants listed in ClinVar. Paper did not include any functional work.; to: Three brothers with NOA from consanguineous Turkish family, homozygous NM_002518.3(NPAS2) c.1363C>G; p.(Pro455Ala) variant identified. Found to be heterozygous in mother, and fertile brother and sister. Not present in 1000 Genomes, EVS or gnomAD. Predicted to be “benign” by Polyphen2, and "neutral" by both SIFT and Mutation taster. Not predicted to be within a functional domain. Gene not listed as a disease-gene in OMIM, no other 'pathogenic' or 'likely pathogenic' variants listed in ClinVar. Publication did not include any functional work as support.
Mendeliome v0.7415 PNKD Zornitza Stark Marked gene: PNKD as ready
Mendeliome v0.7415 PNKD Zornitza Stark Gene: pnkd has been classified as Green List (High Evidence).
Mendeliome v0.7415 PNKD Zornitza Stark Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326
Mendeliome v0.7414 PNKD Zornitza Stark Publications for gene: PNKD were set to
Mendeliome v0.7413 PNKD Zornitza Stark Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7412 PNKD Zornitza Stark reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15262732, 15496428, 15824259, 19124534, 21487022; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800, MONDO:0007326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7412 NPAS2 Alison Compton reviewed gene: NPAS2: Rating: RED; Mode of pathogenicity: Other; Publications: 25956372; Phenotypes: Non-obstructive azoospermia; Mode of inheritance: Unknown
Mitochondrial disease v0.608 MECR Zornitza Stark Marked gene: MECR as ready
Mitochondrial disease v0.608 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Mitochondrial disease v0.608 MECR Zornitza Stark Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003
Mitochondrial disease v0.607 MECR Zornitza Stark Publications for gene: MECR were set to
Mitochondrial disease v0.606 MECR Zornitza Stark Mode of inheritance for gene: MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.605 MECR Zornitza Stark reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7412 MECR Zornitza Stark Marked gene: MECR as ready
Mendeliome v0.7412 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Mendeliome v0.7412 MECR Zornitza Stark Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003
Mendeliome v0.7411 MECR Zornitza Stark Publications for gene: MECR were set to
Mendeliome v0.7410 MECR Zornitza Stark Mode of inheritance for gene: MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7409 MECR Zornitza Stark reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia and Chorea v0.174 MECR Zornitza Stark Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM#617282 to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003
Dystonia and Chorea v0.173 MECR Zornitza Stark Publications for gene: MECR were set to PMID: 27817865; 31137067
Dystonia and Chorea v0.172 MECR Zornitza Stark reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7409 HPCA Zornitza Stark Marked gene: HPCA as ready
Mendeliome v0.7409 HPCA Zornitza Stark Gene: hpca has been classified as Green List (High Evidence).
Mendeliome v0.7409 HPCA Zornitza Stark Phenotypes for gene: HPCA were changed from to Dystonia 2, torsion, autosomal recessive, MIM# 224500; MONDO:0009141
Mendeliome v0.7408 HPCA Zornitza Stark Publications for gene: HPCA were set to
Mendeliome v0.7407 HPCA Zornitza Stark Mode of inheritance for gene: HPCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7406 HPCA Zornitza Stark reviewed gene: HPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25799108, 30991467, 30145809; Phenotypes: Dystonia 2, torsion, autosomal recessive, MIM# 224500, MONDO:0009141; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.306 GNAL Zornitza Stark Marked gene: GNAL as ready
Regression v0.306 GNAL Zornitza Stark Gene: gnal has been classified as Red List (Low Evidence).
Regression v0.306 GNAL Zornitza Stark Phenotypes for gene: GNAL were changed from to Dystonia 25, MIM# 615073; MONDO:0014033
Regression v0.305 GNAL Zornitza Stark Publications for gene: GNAL were set to
Regression v0.304 GNAL Zornitza Stark Mode of inheritance for gene: GNAL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.303 GNAL Zornitza Stark Classified gene: GNAL as Red List (low evidence)
Regression v0.303 GNAL Zornitza Stark Gene: gnal has been classified as Red List (Low Evidence).
Regression v0.302 GNAL Zornitza Stark reviewed gene: GNAL: Rating: RED; Mode of pathogenicity: None; Publications: 23222958, 33175450, 32180288; Phenotypes: Dystonia 25, MIM# 615073, MONDO:0014033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7406 GNAL Zornitza Stark Marked gene: GNAL as ready
Mendeliome v0.7406 GNAL Zornitza Stark Gene: gnal has been classified as Green List (High Evidence).
Mendeliome v0.7406 GNAL Zornitza Stark Phenotypes for gene: GNAL were changed from to Dystonia 25, MIM# 615073; MONDO:0014033
Mendeliome v0.7405 GNAL Zornitza Stark Publications for gene: GNAL were set to
Mendeliome v0.7404 GNAL Zornitza Stark Mode of inheritance for gene: GNAL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7403 GNAL Zornitza Stark reviewed gene: GNAL: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222958, 33175450, 32180288; Phenotypes: Dystonia 25, MIM# 615073, MONDO:0014033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3720 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to
Intellectual disability syndromic and non-syndromic v0.3719 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3718 ADCY5 Zornitza Stark changed review comment from: Variants in this gene cause a movement disorder, intellectual disability is not typically a feature.; to: Variants in this gene cause a movement disorder, intellectual disability is not typically a feature.

Note one report of two siblings with bi-allelic variants and much more severe phenotype including ID (PMID 33704598); however parents were asymptomatic so evidence for causality is limited.
Intellectual disability syndromic and non-syndromic v0.3718 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.95 ADCY5 Zornitza Stark Marked gene: ADCY5 as ready
Paroxysmal Dyskinesia v0.95 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.95 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707
Paroxysmal Dyskinesia v0.94 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to
Paroxysmal Dyskinesia v0.93 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal Dyskinesia v0.92 ADCY5 Zornitza Stark reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22782511, 24700542, 33051786, 32647899, 33704598; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7403 ADCY5 Zornitza Stark Marked gene: ADCY5 as ready
Mendeliome v0.7403 ADCY5 Zornitza Stark Gene: adcy5 has been classified as Green List (High Evidence).
Mendeliome v0.7403 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707
Mendeliome v0.7402 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to
Mendeliome v0.7401 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7400 ADCY5 Zornitza Stark reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22782511, 24700542, 33051786, 32647899, 33704598; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3718 XPNPEP3 Zornitza Stark changed review comment from: 1 family with 3 sibs with a renal disease reminiscent of nephronophthisis.; to: Three families reported but phenotype is predominantly a renal ciliopathy.
Callosome v0.285 XPNPEP3 Zornitza Stark changed review comment from: 1 family with 3 sibs with a renal disease reminiscent of nephronophthisis.; to: 3 families reported but predominantly a renal ciliopathy phenotype.
Mendeliome v0.7400 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Green List (high evidence)
Mendeliome v0.7400 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Green List (High Evidence).
Mendeliome v0.7399 XPNPEP3 Zornitza Stark edited their review of gene: XPNPEP3: Added comment: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence for involvement in ciliary function.

PMID 32660933: Additional case reported.; Changed rating: GREEN; Changed publications: 20179356, 32660933
Ciliopathies v0.274 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to 20179356
Ciliopathies v0.273 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Green List (high evidence)
Ciliopathies v0.273 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Green List (High Evidence).
Ciliopathies v0.272 XPNPEP3 Zornitza Stark edited their review of gene: XPNPEP3: Added comment: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence for involvement in ciliary function.

PMID 32660933: Additional case reported.; Changed rating: GREEN; Changed publications: 32660933, 20179356
Renal Ciliopathies and Nephronophthisis v0.144 XPNPEP3 Zornitza Stark changed review comment from: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence.

PMID 32660933: Additional case reported.; to: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence for involvement in ciliary function.

PMID 32660933: Additional case reported.
Renal Ciliopathies and Nephronophthisis v0.144 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.144 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.143 XPNPEP3 Zornitza Stark changed review comment from: Additional case reported.; to: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence.

PMID 32660933: Additional case reported.
Renal Ciliopathies and Nephronophthisis v0.143 XPNPEP3 Zornitza Stark edited their review of gene: XPNPEP3: Changed rating: GREEN
Renal Ciliopathies and Nephronophthisis v0.143 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to 20179356
Renal Ciliopathies and Nephronophthisis v0.142 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.142 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.141 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32660933, 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.302 THAP1 Zornitza Stark Marked gene: THAP1 as ready
Regression v0.302 THAP1 Zornitza Stark Gene: thap1 has been classified as Red List (Low Evidence).
Regression v0.302 THAP1 Zornitza Stark Phenotypes for gene: THAP1 were changed from to Dystonia 6, torsion, 602629; MONDO:0011264
Regression v0.301 THAP1 Zornitza Stark Publications for gene: THAP1 were set to
Regression v0.300 THAP1 Zornitza Stark Mode of inheritance for gene: THAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.299 THAP1 Zornitza Stark Classified gene: THAP1 as Red List (low evidence)
Regression v0.299 THAP1 Zornitza Stark Gene: thap1 has been classified as Red List (Low Evidence).
Regression v0.298 THAP1 Zornitza Stark reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: None; Publications: 21793105, 22377579; Phenotypes: Dystonia 6, torsion, 602629, MONDO:0011264; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7399 THAP1 Zornitza Stark Marked gene: THAP1 as ready
Mendeliome v0.7399 THAP1 Zornitza Stark Gene: thap1 has been classified as Green List (High Evidence).
Mendeliome v0.7399 THAP1 Zornitza Stark Phenotypes for gene: THAP1 were changed from to Dystonia 6, torsion, 602629; MONDO:0011264
Mendeliome v0.7398 THAP1 Zornitza Stark Publications for gene: THAP1 were set to
Mendeliome v0.7397 THAP1 Zornitza Stark Mode of inheritance for gene: THAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7396 THAP1 Zornitza Stark reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21793105, 22377579; Phenotypes: Dystonia 6, torsion, 602629, MONDO:0011264; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7396 EIF4G1 Bryony Thompson Tag for review was removed from gene: EIF4G1.
Mendeliome v0.7396 EIF4G1 Bryony Thompson Publications for gene: EIF4G1 were set to 21907011; 23408866; 25368108
Incidentalome v0.62 UCHL1 Bryony Thompson Tag for review tag was added to gene: UCHL1.
Mackenzie's Mission_Reproductive Carrier Screening v0.70 PDE6B Sarah Righetti reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa-40, MIM #613801; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.70 IMPG2 Sarah Righetti reviewed gene: IMPG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 56 MIM #613801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.70 FAM161A Sarah Righetti reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 28, MIM #606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.70 ZNF469 Sarah Righetti reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brittle cornea syndrome 1, MIM #229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7395 CHST11 Zornitza Stark Marked gene: CHST11 as ready
Mendeliome v0.7395 CHST11 Zornitza Stark Gene: chst11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7395 CHST11 Zornitza Stark Classified gene: CHST11 as Amber List (moderate evidence)
Mendeliome v0.7395 CHST11 Zornitza Stark Gene: chst11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7394 CHST11 Zornitza Stark Tag SV/CNV tag was added to gene: CHST11.
Skeletal dysplasia v0.92 CHST11 Zornitza Stark Tag SV/CNV tag was added to gene: CHST11.
Mendeliome v0.7394 CHST11 Zornitza Stark gene: CHST11 was added
gene: CHST11 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CHST11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST11 were set to 26436107; 29514872
Phenotypes for gene: CHST11 were set to Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167
Review for gene: CHST11 was set to AMBER
Added comment: Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum.

Two unrelated families reported, note one had a homozygous deletion. One family had 10 affected individuals.
Sources: Expert Review
Skeletal dysplasia v0.92 CHST11 Zornitza Stark Marked gene: CHST11 as ready
Skeletal dysplasia v0.92 CHST11 Zornitza Stark Gene: chst11 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.92 CHST11 Zornitza Stark Classified gene: CHST11 as Amber List (moderate evidence)
Skeletal dysplasia v0.92 CHST11 Zornitza Stark Gene: chst11 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.91 CHST11 Zornitza Stark gene: CHST11 was added
gene: CHST11 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: CHST11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST11 were set to 26436107; 29514872
Phenotypes for gene: CHST11 were set to Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167
Review for gene: CHST11 was set to AMBER
Added comment: Two unrelated families reported, note one had a homozygous deletion.
Sources: Expert list
Progressive Myoclonic Epilepsy v0.11 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Lipodystrophy_Lipoatrophy v1.0 Zornitza Stark promoted panel to version 1.0
Lipodystrophy_Lipoatrophy v0.90 WRN Zornitza Stark Marked gene: WRN as ready
Lipodystrophy_Lipoatrophy v0.90 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.90 WRN Zornitza Stark Phenotypes for gene: WRN were changed from to Werner syndrome, MIM# 277700; MONDO:0010196
Lipodystrophy_Lipoatrophy v0.89 WRN Zornitza Stark Publications for gene: WRN were set to
Lipodystrophy_Lipoatrophy v0.88 WRN Zornitza Stark Mode of inheritance for gene: WRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.87 WRN Zornitza Stark reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Werner syndrome, MIM# 277700, MONDO:0010196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Marked gene: SPRTN as ready
Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Classified gene: SPRTN as Green List (high evidence)
Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.1 SPRTN Zornitza Stark gene: SPRTN was added
gene: SPRTN was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRTN were set to 25261934
Phenotypes for gene: SPRTN were set to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527
Review for gene: SPRTN was set to GREEN
Added comment: Two families with functional evidence for a DNA repair disorder; progeroid features and hepatocellular carcinoma reported as key features.
Sources: Expert Review
Mendeliome v0.7393 SPRTN Zornitza Stark Phenotypes for gene: SPRTN were changed from Ruijs-Aalfs syndrome, MIM# 616200 to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527
Mendeliome v0.7392 SPRTN Zornitza Stark edited their review of gene: SPRTN: Changed phenotypes: Ruijs-Aalfs syndrome, MIM# 616200, MONDO:0014527
Lipodystrophy_Lipoatrophy v0.87 SPRTN Zornitza Stark Marked gene: SPRTN as ready
Lipodystrophy_Lipoatrophy v0.87 SPRTN Zornitza Stark Gene: sprtn has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.87 SPRTN Zornitza Stark Publications for gene: SPRTN were set to
Lipodystrophy_Lipoatrophy v0.86 SPRTN Zornitza Stark Mode of inheritance for gene: SPRTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.85 SPRTN Zornitza Stark Phenotypes for gene: SPRTN were changed from to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527
Lipodystrophy_Lipoatrophy v0.84 SPRTN Zornitza Stark Classified gene: SPRTN as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v0.84 SPRTN Zornitza Stark Gene: sprtn has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.83 SPRTN Zornitza Stark reviewed gene: SPRTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 25261934; Phenotypes: Ruijs-Aalfs syndrome, MIM# 616200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.83 PSMB8 Zornitza Stark changed review comment from: This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anaemia.

This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE).

More than 10 molecularly confirmed cases reported.

Digenic inheritance has been proposed in some individuals with variants in other PSMB genes.; to: This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anaemia.

This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anaemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE).

More than 10 molecularly confirmed cases reported.

Digenic inheritance has been proposed in some individuals with variants in other PSMB genes.
Autoinflammatory Disorders v0.106 PSMB8 Zornitza Stark Marked gene: PSMB8 as ready
Autoinflammatory Disorders v0.106 PSMB8 Zornitza Stark Gene: psmb8 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.106 PSMB8 Zornitza Stark Phenotypes for gene: PSMB8 were changed from to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698
Autoinflammatory Disorders v0.105 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to
Autoinflammatory Disorders v0.104 PSMB8 Zornitza Stark Mode of inheritance for gene: PSMB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.103 PSMB8 Zornitza Stark reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040, MONDO:0054698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7392 PSMB8 Zornitza Stark Marked gene: PSMB8 as ready
Mendeliome v0.7392 PSMB8 Zornitza Stark Gene: psmb8 has been classified as Green List (High Evidence).
Mendeliome v0.7392 PSMB8 Zornitza Stark Phenotypes for gene: PSMB8 were changed from to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698
Mendeliome v0.7391 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to
Mendeliome v0.7390 PSMB8 Zornitza Stark Mode of inheritance for gene: PSMB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7389 PSMB8 Zornitza Stark reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040, MONDO:0054698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.83 PSMB8 Zornitza Stark Marked gene: PSMB8 as ready
Lipodystrophy_Lipoatrophy v0.83 PSMB8 Zornitza Stark Gene: psmb8 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.83 PSMB8 Zornitza Stark Phenotypes for gene: PSMB8 were changed from to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698
Lipodystrophy_Lipoatrophy v0.82 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to
Lipodystrophy_Lipoatrophy v0.81 PSMB8 Zornitza Stark Mode of inheritance for gene: PSMB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.80 PSMB8 Zornitza Stark reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7389 EFEMP1 Zornitza Stark Publications for gene: EFEMP1 were set to 32006683; 31792352
Mendeliome v0.7388 EFEMP1 Zornitza Stark edited their review of gene: EFEMP1: Added comment: PMID 33807164: third unrelated family reported with CTD phenotype, single affected individual with bi-alllelic LoF variant, cutis laxa and multiple herniations.; Changed publications: 32006683, 31792352, 33807164
Aortopathy_Connective Tissue Disorders v1.27 EFEMP1 Zornitza Stark Phenotypes for gene: EFEMP1 were changed from EFEMP1-related connective tissue disorder to EFEMP1-related connective tissue disorder; cutis laxa
Aortopathy_Connective Tissue Disorders v1.26 EFEMP1 Zornitza Stark Publications for gene: EFEMP1 were set to 32006683; 31792352
Aortopathy_Connective Tissue Disorders v1.25 EFEMP1 Zornitza Stark Classified gene: EFEMP1 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.25 EFEMP1 Zornitza Stark Gene: efemp1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.24 EFEMP1 Zornitza Stark reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33807164; Phenotypes: EFEMP1-related connective tissue disorder, cutis laxa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7388 PPARG Zornitza Stark Marked gene: PPARG as ready
Mendeliome v0.7388 PPARG Zornitza Stark Gene: pparg has been classified as Green List (High Evidence).
Mendeliome v0.7388 PPARG Zornitza Stark Phenotypes for gene: PPARG were changed from to Lipodystrophy, familial partial, type 3, MIM# 604367; MONDO:0011448
Mendeliome v0.7387 PPARG Zornitza Stark Publications for gene: PPARG were set to
Mendeliome v0.7386 PPARG Zornitza Stark Mode of inheritance for gene: PPARG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7385 PPARG Zornitza Stark reviewed gene: PPARG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10622252, 12453919, 11788685, 31863320; Phenotypes: Lipodystrophy, familial partial, type 3, MIM# 604367, MONDO:0011448; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.79 PPARG Zornitza Stark Marked gene: PPARG as ready
Lipodystrophy_Lipoatrophy v0.79 PPARG Zornitza Stark Gene: pparg has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.79 PPARG Zornitza Stark Phenotypes for gene: PPARG were changed from to Lipodystrophy, familial partial, type 3, MIM# 604367; MONDO:0011448
Lipodystrophy_Lipoatrophy v0.78 PPARG Zornitza Stark Publications for gene: PPARG were set to
Lipodystrophy_Lipoatrophy v0.77 PPARG Zornitza Stark Mode of inheritance for gene: PPARG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.76 PPARG Zornitza Stark reviewed gene: PPARG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10622252, 12453919, 11788685, 31863320; Phenotypes: Lipodystrophy, familial partial, type 3, MIM# 604367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.76 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Lipodystrophy_Lipoatrophy v0.76 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Mendeliome v0.7385 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Mendeliome v0.7385 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Mendeliome v0.7385 POLD1 Zornitza Stark Phenotypes for gene: POLD1 were changed from to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381; MONDO:0014157
Mendeliome v0.7384 POLD1 Zornitza Stark Publications for gene: POLD1 were set to
Mendeliome v0.7383 POLD1 Zornitza Stark Mode of inheritance for gene: POLD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7382 POLD1 Zornitza Stark reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23770608, 33618333, 33369179, 32826474, 30023403, 29199204, 28791128; Phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381, MONDO:0014157; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.76 POLD1 Zornitza Stark Phenotypes for gene: POLD1 were changed from to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381; MONDO:0014157
Lipodystrophy_Lipoatrophy v0.75 POLD1 Zornitza Stark Publications for gene: POLD1 were set to
Lipodystrophy_Lipoatrophy v0.74 POLD1 Zornitza Stark Mode of inheritance for gene: POLD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.73 POLD1 Zornitza Stark reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23770608, 33618333, 33369179, 32826474, 30023403, 29199204, 28791128; Phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381, MONDO:0014157; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7382 PLIN1 Zornitza Stark Tag disputed tag was added to gene: PLIN1.
Monogenic Diabetes v0.15 PLIN1 Zornitza Stark Tag disputed tag was added to gene: PLIN1.
Monogenic Diabetes v0.15 PLIN1 Zornitza Stark Marked gene: PLIN1 as ready
Monogenic Diabetes v0.15 PLIN1 Zornitza Stark Gene: plin1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.15 PLIN1 Zornitza Stark Phenotypes for gene: PLIN1 were changed from Lipodystrophy, familial partial, type 4, 613877; partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic Diabetes v0.14 PLIN1 Zornitza Stark Classified gene: PLIN1 as Amber List (moderate evidence)
Monogenic Diabetes v0.14 PLIN1 Zornitza Stark Gene: plin1 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.13 PLIN1 Zornitza Stark reviewed gene: PLIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21345103, 31504636, 30020498, 25114292; Phenotypes: Lipodystrophy, familial partial, type 4, MIM# 613877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7382 PLIN1 Zornitza Stark Marked gene: PLIN1 as ready
Mendeliome v0.7382 PLIN1 Zornitza Stark Gene: plin1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7382 PLIN1 Zornitza Stark Phenotypes for gene: PLIN1 were changed from to Lipodystrophy, familial partial, type 4, MIM# 613877
Mendeliome v0.7381 PLIN1 Zornitza Stark Publications for gene: PLIN1 were set to
Mendeliome v0.7380 PLIN1 Zornitza Stark Mode of inheritance for gene: PLIN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7379 PLIN1 Zornitza Stark Classified gene: PLIN1 as Amber List (moderate evidence)
Mendeliome v0.7379 PLIN1 Zornitza Stark Gene: plin1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7378 PLIN1 Zornitza Stark reviewed gene: PLIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21345103, 31504636, 30020498, 25114292; Phenotypes: Lipodystrophy, familial partial, type 4, MIM# 613877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.73 PLIN1 Zornitza Stark Marked gene: PLIN1 as ready
Lipodystrophy_Lipoatrophy v0.73 PLIN1 Zornitza Stark Gene: plin1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.73 PLIN1 Zornitza Stark Phenotypes for gene: PLIN1 were changed from to Lipodystrophy, familial partial, type 4, MIM# 613877
Lipodystrophy_Lipoatrophy v0.72 PLIN1 Zornitza Stark Publications for gene: PLIN1 were set to
Lipodystrophy_Lipoatrophy v0.71 PLIN1 Zornitza Stark Mode of inheritance for gene: PLIN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.70 PLIN1 Zornitza Stark Classified gene: PLIN1 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v0.70 PLIN1 Zornitza Stark Gene: plin1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.69 PLIN1 Zornitza Stark Tag disputed tag was added to gene: PLIN1.
Lipodystrophy_Lipoatrophy v0.69 PLIN1 Zornitza Stark reviewed gene: PLIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21345103, 31504636, 30020498, 25114292; Phenotypes: Lipodystrophy, familial partial, type 4, MIM# 613877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.69 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Lipodystrophy_Lipoatrophy v0.69 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.69 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM# 269880; Lipodystrophy; insulin resistance
Lipodystrophy_Lipoatrophy v0.68 PIK3R1 Zornitza Stark Publications for gene: PIK3R1 were set to
Lipodystrophy_Lipoatrophy v0.67 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.66 PIK3R1 Zornitza Stark edited their review of gene: PIK3R1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.66 PIK3R1 Zornitza Stark edited their review of gene: PIK3R1: Changed rating: GREEN
Lipodystrophy_Lipoatrophy v0.66 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: ; Mode of pathogenicity: None; Publications: 32439336, 28472977, 26974159, 24886349, 24830046; Phenotypes: SHORT syndrome, MIM# 269880, Lipodystrophy, insulin resistance; Mode of inheritance: None
Mitochondrial disease v0.605 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Mitochondrial disease v0.605 MORC2 Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap.
Mitochondrial disease v0.605 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.605 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Mitochondrial disease v0.605 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Mendeliome v0.7378 PCYT1A Zornitza Stark Marked gene: PCYT1A as ready
Mendeliome v0.7378 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Green List (High Evidence).
Mendeliome v0.7378 PCYT1A Zornitza Stark Phenotypes for gene: PCYT1A were changed from to Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940; Congenital lipodystrophy
Mendeliome v0.7377 PCYT1A Zornitza Stark Publications for gene: PCYT1A were set to
Mendeliome v0.7376 PCYT1A Zornitza Stark Mode of inheritance for gene: PCYT1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7375 PCYT1A Zornitza Stark reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24387990, 24387991, 24889630; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940, Congenital lipodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.166 PCYT1A Zornitza Stark Marked gene: PCYT1A as ready
Syndromic Retinopathy v0.166 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.166 PCYT1A Zornitza Stark Publications for gene: PCYT1A were set to
Syndromic Retinopathy v0.165 PCYT1A Zornitza Stark reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24387990, 24387991; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.65 PCYT1A Zornitza Stark edited their review of gene: PCYT1A: Changed publications: 24889630
Lipodystrophy_Lipoatrophy v0.65 PCYT1A Zornitza Stark Marked gene: PCYT1A as ready
Lipodystrophy_Lipoatrophy v0.65 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.65 PCYT1A Zornitza Stark Phenotypes for gene: PCYT1A were changed from to Congenital lipodystrophy; fatty liver disease
Lipodystrophy_Lipoatrophy v0.64 PCYT1A Zornitza Stark Publications for gene: PCYT1A were set to
Lipodystrophy_Lipoatrophy v0.63 PCYT1A Zornitza Stark Mode of inheritance for gene: PCYT1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.62 PCYT1A Zornitza Stark Classified gene: PCYT1A as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v0.62 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.61 PCYT1A Zornitza Stark reviewed gene: PCYT1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital lipodystrophy, fatty liver disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.61 LMNA Zornitza Stark Marked gene: LMNA as ready
Lipodystrophy_Lipoatrophy v0.61 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.61 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from to Lipodystrophy, familial partial, type 2, MIM# 151660
Lipodystrophy_Lipoatrophy v0.60 LMNA Zornitza Stark Publications for gene: LMNA were set to
Lipodystrophy_Lipoatrophy v0.59 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.58 LMNA Zornitza Stark reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10587585, 10655060; Phenotypes: Lipodystrophy, familial partial, type 2, MIM# 151660; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3718 KCNJ6 Zornitza Stark Publications for gene: KCNJ6 were set to 25620207
Intellectual disability syndromic and non-syndromic v0.3717 KCNJ6 Zornitza Stark changed review comment from: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Three unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model.; to: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Four unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.
Intellectual disability syndromic and non-syndromic v0.3717 KCNJ6 Zornitza Stark edited their review of gene: KCNJ6: Changed publications: 25620207, 29852244
Microcephaly v1.8 KCNJ6 Zornitza Stark Publications for gene: KCNJ6 were set to 25620207
Microcephaly v1.7 KCNJ6 Zornitza Stark changed review comment from: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Three unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model.
Sources: Expert Review; to: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Four unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.
Sources: Expert Review
Microcephaly v1.7 KCNJ6 Zornitza Stark edited their review of gene: KCNJ6: Changed publications: 25620207, 29852244
Lipodystrophy_Lipoatrophy v0.58 KCNJ6 Zornitza Stark Publications for gene: KCNJ6 were set to 25620207
Lipodystrophy_Lipoatrophy v0.57 KCNJ6 Zornitza Stark changed review comment from: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Three unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model.; to: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Four unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.
Lipodystrophy_Lipoatrophy v0.57 KCNJ6 Zornitza Stark edited their review of gene: KCNJ6: Changed publications: 25620207, 29852244
Mendeliome v0.7375 KCNJ6 Zornitza Stark Publications for gene: KCNJ6 were set to 25620207
Mendeliome v0.7374 KCNJ6 Zornitza Stark changed review comment from: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Three unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model.; to: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Four unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.
Mendeliome v0.7374 KCNJ6 Zornitza Stark edited their review of gene: KCNJ6: Changed publications: 25620207, 29852244
Microcephaly v1.7 KCNJ6 Zornitza Stark Marked gene: KCNJ6 as ready
Microcephaly v1.7 KCNJ6 Zornitza Stark Gene: kcnj6 has been classified as Green List (High Evidence).
Microcephaly v1.7 KCNJ6 Zornitza Stark Classified gene: KCNJ6 as Green List (high evidence)
Microcephaly v1.7 KCNJ6 Zornitza Stark Gene: kcnj6 has been classified as Green List (High Evidence).
Microcephaly v1.6 KCNJ6 Zornitza Stark gene: KCNJ6 was added
gene: KCNJ6 was added to Microcephaly. Sources: Expert Review
Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ6 were set to 25620207
Phenotypes for gene: KCNJ6 were set to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572
Review for gene: KCNJ6 was set to GREEN
Added comment: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Three unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model.
Sources: Expert Review
Mendeliome v0.7374 KCNJ6 Zornitza Stark Marked gene: KCNJ6 as ready
Mendeliome v0.7374 KCNJ6 Zornitza Stark Gene: kcnj6 has been classified as Green List (High Evidence).
Mendeliome v0.7374 KCNJ6 Zornitza Stark Phenotypes for gene: KCNJ6 were changed from to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572
Mendeliome v0.7373 KCNJ6 Zornitza Stark Publications for gene: KCNJ6 were set to
Mendeliome v0.7372 KCNJ6 Zornitza Stark Mode of inheritance for gene: KCNJ6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7371 KCNJ6 Zornitza Stark reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620207; Phenotypes: Keppen-Lubinsky syndrome, MIM# 614098, MONDO:0013572; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3717 KCNJ6 Zornitza Stark Marked gene: KCNJ6 as ready
Intellectual disability syndromic and non-syndromic v0.3717 KCNJ6 Zornitza Stark Gene: kcnj6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3717 KCNJ6 Zornitza Stark Phenotypes for gene: KCNJ6 were changed from to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572
Intellectual disability syndromic and non-syndromic v0.3716 KCNJ6 Zornitza Stark Publications for gene: KCNJ6 were set to
Intellectual disability syndromic and non-syndromic v0.3715 KCNJ6 Zornitza Stark Mode of inheritance for gene: KCNJ6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3714 KCNJ6 Zornitza Stark reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620207; Phenotypes: Keppen-Lubinsky syndrome, MIM# 614098, MONDO:0013572; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.57 KCNJ6 Zornitza Stark Marked gene: KCNJ6 as ready
Lipodystrophy_Lipoatrophy v0.57 KCNJ6 Zornitza Stark Gene: kcnj6 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.57 KCNJ6 Zornitza Stark Phenotypes for gene: KCNJ6 were changed from to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572
Lipodystrophy_Lipoatrophy v0.56 KCNJ6 Zornitza Stark Publications for gene: KCNJ6 were set to
Lipodystrophy_Lipoatrophy v0.55 KCNJ6 Zornitza Stark Mode of inheritance for gene: KCNJ6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.54 KCNJ6 Zornitza Stark edited their review of gene: KCNJ6: Changed phenotypes: Keppen-Lubinsky syndrome, MIM# 614098, MONDO:0013572
Lipodystrophy_Lipoatrophy v0.54 KCNJ6 Zornitza Stark reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620207; Phenotypes: Keppen-Lubinsky syndrome, MIM# 614098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.54 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Lipodystrophy_Lipoatrophy v0.54 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.54 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan lipodystrophy syndrome, MIM# 616914
Lipodystrophy_Lipoatrophy v0.53 FBN1 Zornitza Stark Publications for gene: FBN1 were set to 20979188; 21594992; 21594993; 24613577; 26860060; 29666143
Lipodystrophy_Lipoatrophy v0.53 FBN1 Zornitza Stark Publications for gene: FBN1 were set to
Lipodystrophy_Lipoatrophy v0.52 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.51 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20979188, 21594992, 21594993, 24613577, 26860060, 29666143; Phenotypes: Marfan lipodystrophy syndrome, MIM# 616914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.51 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Lipodystrophy_Lipoatrophy v0.51 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.51 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type B, MIM# 133540
Lipodystrophy_Lipoatrophy v0.50 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to
Lipodystrophy_Lipoatrophy v0.49 ERCC8 Zornitza Stark Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.48 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Cockayne syndrome, type B, MIM# 133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.48 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Lipodystrophy_Lipoatrophy v0.48 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.48 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from to Cockayne syndrome, type B, MIM# 133540
Lipodystrophy_Lipoatrophy v0.47 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Lipodystrophy_Lipoatrophy v0.46 ERCC6 Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.45 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Cockayne syndrome, type B, MIM# 133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.45 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.7371 EIF4G1 Zornitza Stark Marked gene: EIF4G1 as ready
Mendeliome v0.7371 EIF4G1 Zornitza Stark Gene: eif4g1 has been classified as Red List (Low Evidence).
Mendeliome v0.7371 EIF4G1 Zornitza Stark Phenotypes for gene: EIF4G1 were changed from to {Parkinson disease 18} 614251
Mendeliome v0.7370 EIF4G1 Zornitza Stark Tag disputed tag was added to gene: EIF4G1.
Mendeliome v0.7370 EIF4G1 Zornitza Stark Publications for gene: EIF4G1 were set to
Mendeliome v0.7369 EIF4G1 Zornitza Stark Mode of inheritance for gene: EIF4G1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7368 EIF4G1 Zornitza Stark Classified gene: EIF4G1 as Red List (low evidence)
Mendeliome v0.7368 EIF4G1 Zornitza Stark Gene: eif4g1 has been classified as Red List (Low Evidence).
Mendeliome v0.7367 EIF4G1 Zornitza Stark reviewed gene: EIF4G1: Rating: RED; Mode of pathogenicity: None; Publications: 21907011, 23408866, 25368108; Phenotypes: {Parkinson disease 18} 614251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7367 EIF4G1 Bryony Thompson Tag for review tag was added to gene: EIF4G1.
Mendeliome v0.7367 CIDEC Zornitza Stark Marked gene: CIDEC as ready
Mendeliome v0.7367 CIDEC Zornitza Stark Gene: cidec has been classified as Red List (Low Evidence).
Mendeliome v0.7367 CIDEC Zornitza Stark Phenotypes for gene: CIDEC were changed from to Lipodystrophy, familial partial, type 5, MIM# 615238
Mendeliome v0.7366 CIDEC Zornitza Stark Publications for gene: CIDEC were set to
Mendeliome v0.7365 CIDEC Zornitza Stark Mode of inheritance for gene: CIDEC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7364 CIDEC Zornitza Stark Classified gene: CIDEC as Red List (low evidence)
Mendeliome v0.7364 CIDEC Zornitza Stark Gene: cidec has been classified as Red List (Low Evidence).
Mendeliome v0.7363 CIDEC Zornitza Stark reviewed gene: CIDEC: Rating: RED; Mode of pathogenicity: None; Publications: 20049731; Phenotypes: Lipodystrophy, familial partial, type 5, MIM# 615238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.44 CIDEC Zornitza Stark Marked gene: CIDEC as ready
Lipodystrophy_Lipoatrophy v0.44 CIDEC Zornitza Stark Gene: cidec has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v0.44 CIDEC Zornitza Stark Phenotypes for gene: CIDEC were changed from to Lipodystrophy, familial partial, type 5, MIM# 615238
Lipodystrophy_Lipoatrophy v0.43 CIDEC Zornitza Stark Publications for gene: CIDEC were set to
Lipodystrophy_Lipoatrophy v0.42 CIDEC Zornitza Stark Mode of inheritance for gene: CIDEC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.41 CIDEC Zornitza Stark Classified gene: CIDEC as Red List (low evidence)
Lipodystrophy_Lipoatrophy v0.41 CIDEC Zornitza Stark Gene: cidec has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v0.40 CIDEC Zornitza Stark reviewed gene: CIDEC: Rating: RED; Mode of pathogenicity: None; Publications: 20049731; Phenotypes: Lipodystrophy, familial partial, type 5, MIM# 615238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.604 MORC2 Naomi Baker gene: MORC2 was added
gene: MORC2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to PMID: 32693025
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688.
Review for gene: MORC2 was set to GREEN
Added comment: Five of eighteen individuals for whom brain imaging was available had lesions reminiscent of those observed in Leigh syndrome.
Sources: Literature
Mendeliome v0.7363 SAG Teresa Zhao Deleted their review
Mendeliome v0.7363 SAG Teresa Zhao reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 22419846, 9452120; Phenotypes: Oguchi disease-1 (MIM#258100), AR, Retinitis pigmentosa 47 (MIM#613758); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Leukodystrophy v0.218 LIG3 Zornitza Stark Marked gene: LIG3 as ready
Leukodystrophy v0.218 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Leukodystrophy v0.218 LIG3 Zornitza Stark Classified gene: LIG3 as Green List (high evidence)
Leukodystrophy v0.218 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Leukodystrophy v0.217 LIG3 Zornitza Stark gene: LIG3 was added
gene: LIG3 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG3 were set to 33855352
Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy
Review for gene: LIG3 was set to GREEN
Added comment: Seven individuals from three unrelated families and functional data, variable ages of onset from early childhood to late adolescence.
Sources: Literature
Mendeliome v0.7363 LIG3 Zornitza Stark changed review comment from: Three unrelated families and functional data.
Sources: Literature; to: Seven individuals from three unrelated families and functional data, variable ages of onset from early childhood to late adolescence.
Sources: Literature
Gastrointestinal neuromuscular disease v0.34 LIG3 Zornitza Stark changed review comment from: Three unrelated families and functional data.
Sources: Literature; to: Seven individuals from three unrelated families and functional data.
Sources: Literature
Gastrointestinal neuromuscular disease v0.34 LIG3 Zornitza Stark Marked gene: LIG3 as ready
Gastrointestinal neuromuscular disease v0.34 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.34 LIG3 Zornitza Stark Classified gene: LIG3 as Green List (high evidence)
Gastrointestinal neuromuscular disease v0.34 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v0.33 LIG3 Zornitza Stark gene: LIG3 was added
gene: LIG3 was added to Gastrointestinal neuromuscular disease. Sources: Literature
Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG3 were set to 33855352
Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy
Review for gene: LIG3 was set to GREEN
Added comment: Three unrelated families and functional data.
Sources: Literature
Mendeliome v0.7363 LIG3 Zornitza Stark Marked gene: LIG3 as ready
Mendeliome v0.7363 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Mendeliome v0.7363 LIG3 Zornitza Stark Classified gene: LIG3 as Green List (high evidence)
Mendeliome v0.7363 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Mendeliome v0.7362 LIG3 Zornitza Stark gene: LIG3 was added
gene: LIG3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG3 were set to 33855352
Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy
Review for gene: LIG3 was set to GREEN
Added comment: Three unrelated families and functional data.
Sources: Literature
Mitochondrial disease v0.604 LIG3 Zornitza Stark Marked gene: LIG3 as ready
Mitochondrial disease v0.604 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.604 LIG3 Zornitza Stark Classified gene: LIG3 as Green List (high evidence)
Mitochondrial disease v0.604 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Mendeliome v0.7361 HNRNPDL Bryony Thompson Marked gene: HNRNPDL as ready
Mendeliome v0.7361 HNRNPDL Bryony Thompson Gene: hnrnpdl has been classified as Green List (High Evidence).
Mendeliome v0.7361 HNRNPDL Bryony Thompson Classified gene: HNRNPDL as Green List (high evidence)
Mendeliome v0.7361 HNRNPDL Bryony Thompson Gene: hnrnpdl has been classified as Green List (High Evidence).
Mendeliome v0.7360 HNRNPDL Bryony Thompson gene: HNRNPDL was added
gene: HNRNPDL was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPDL were set to 24647604; 31267206; 31995753; 32407983; 32904822; 32367994
Phenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, autosomal dominant 3 MIM#609115
Review for gene: HNRNPDL was set to GREEN
gene: HNRNPDL was marked as current diagnostic
Added comment: At least 5 families reported with either D378H/N, and supporting functional assays demonstrating that these variants affect protein function. No other pathogenic variants have been reported. A VUS has been reported (along with another SETX variant) in an individual with a multi-system disorder, including a metabolic myopathy.
Sources: Expert list
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.57 HNRNPDL Bryony Thompson Publications for gene: HNRNPDL were set to
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.56 HNRNPDL Bryony Thompson Marked gene: HNRNPDL as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.56 HNRNPDL Bryony Thompson Gene: hnrnpdl has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.56 HNRNPDL Bryony Thompson reviewed gene: HNRNPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 24647604, 31267206, 31995753, 32407983, 32904822, 32367994; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 3 MIM#609115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mitochondrial disease v0.603 LIG3 John Christodoulou gene: LIG3 was added
gene: LIG3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG3 were set to PMID: 33855352
Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy
Penetrance for gene: LIG3 were set to Complete
Review for gene: LIG3 was set to GREEN
Added comment: Three families, each with multiple affected individuals with different biallelic LoF variants.

Solid functional data presented - cell based and zebrafish model
Sources: Literature
Mendeliome v0.7359 JMJD1C Zornitza Stark Marked gene: JMJD1C as ready
Mendeliome v0.7359 JMJD1C Zornitza Stark Gene: jmjd1c has been classified as Green List (High Evidence).
Mendeliome v0.7359 JMJD1C Zornitza Stark Classified gene: JMJD1C as Green List (high evidence)
Mendeliome v0.7359 JMJD1C Zornitza Stark Gene: jmjd1c has been classified as Green List (High Evidence).
Mendeliome v0.7358 JMJD1C Zornitza Stark gene: JMJD1C was added
gene: JMJD1C was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JMJD1C were set to 26181491; 32996679
Phenotypes for gene: JMJD1C were set to Intellectual disability
Review for gene: JMJD1C was set to GREEN
Added comment: Reported in ID cohort (with Rett-like phenotypic overlap) with supporting functional studies (PMID: 26181491). 7 individuals with rare variants identified, and variants demonstrated to be de novo in 2, one with a Rett-like phenotype and the other with ID. Functional study of the JMJD1C mutant Rett syndrome patient demonstrated that the altered protein had abnormal subcellular localization, diminished activity to demethylate the DNA damage-response protein MDC1, and reduced binding to MECP2. JMJD1C protein shown to be widely expressed in brain regions and that its depletion compromised dendritic activity.

Splice-disrupting JMJD1C variant reported in association with learning disability and myoclonic epilepsy (PMID 32996679).

Disruption of gene due to balanced translocation (PMID 33591602) implicated in autism spectrum disease phenotype.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3714 JMJD1C Zornitza Stark Marked gene: JMJD1C as ready
Intellectual disability syndromic and non-syndromic v0.3714 JMJD1C Zornitza Stark Gene: jmjd1c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3714 JMJD1C Zornitza Stark Classified gene: JMJD1C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3714 JMJD1C Zornitza Stark Gene: jmjd1c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3713 JMJD1C Zornitza Stark reviewed gene: JMJD1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3713 JMJD1C Chris Richmond gene: JMJD1C was added
gene: JMJD1C was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JMJD1C were set to 26181491; 32996679
Phenotypes for gene: JMJD1C were set to Intellectual disability
Penetrance for gene: JMJD1C were set to unknown
Review for gene: JMJD1C was set to GREEN
Added comment: Reported in ID cohort (with Rett-like phenotypic overlap) with supporting functional studies (PMID: 26181491) "Functional study of the JMJD1C mutant Rett syndrome patient demonstrated that the altered protein had abnormal subcellular localization, diminished activity to demethylate the DNA damage-response protein MDC1, and reduced binding to MECP2. We confirmed that JMJD1C protein is widely expressed in brain regions and that its depletion compromises dendritic activity."

Splice-disrupting JMJD1C variant reported in association with learning disability and myoclonic epilepsy (PMID 32996679)

Disruption of gene due to balanced translocation (PMID 33591602) implicated in autism spectrum disease phenotype.
Sources: Expert Review
Mendeliome v0.7357 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
Mendeliome v0.7357 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
Mendeliome v0.7357 CAVIN1 Zornitza Stark Phenotypes for gene: CAVIN1 were changed from to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225
Mendeliome v0.7356 CAVIN1 Zornitza Stark Publications for gene: CAVIN1 were set to
Mendeliome v0.7355 CAVIN1 Zornitza Stark Mode of inheritance for gene: CAVIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.40 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
Lipodystrophy_Lipoatrophy v0.40 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
Mendeliome v0.7354 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327, MONDO:0013225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.40 CAVIN1 Zornitza Stark Phenotypes for gene: CAVIN1 were changed from to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225
Lipodystrophy_Lipoatrophy v0.39 CAVIN1 Zornitza Stark Publications for gene: CAVIN1 were set to
Lipodystrophy_Lipoatrophy v0.38 CAVIN1 Zornitza Stark Mode of inheritance for gene: CAVIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.37 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327, MONDO:0013225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7354 CAV1 Zornitza Stark Marked gene: CAV1 as ready
Mendeliome v0.7354 CAV1 Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence).
Mendeliome v0.7354 CAV1 Zornitza Stark Phenotypes for gene: CAV1 were changed from to Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721; Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526
Mendeliome v0.7353 CAV1 Zornitza Stark Publications for gene: CAV1 were set to
Mendeliome v0.7352 CAV1 Zornitza Stark Mode of inheritance for gene: CAV1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7351 CAV1 Zornitza Stark reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18237401, 25898808, 11739396, 18211975, 27717241, 26176221, 33836561, 33776068, 32502478, 22474227, 28768485; Phenotypes: Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721, Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.37 CAV1 Zornitza Stark Marked gene: CAV1 as ready
Lipodystrophy_Lipoatrophy v0.37 CAV1 Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.37 CAV1 Zornitza Stark Phenotypes for gene: CAV1 were changed from to Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721; Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526
Lipodystrophy_Lipoatrophy v0.36 CAV1 Zornitza Stark Publications for gene: CAV1 were set to
Lipodystrophy_Lipoatrophy v0.35 CAV1 Zornitza Stark Mode of inheritance for gene: CAV1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.34 CAV1 Zornitza Stark reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18237401, 25898808, 11739396, 18211975, 27717241, 26176221; Phenotypes: Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721, Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.34 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Lipodystrophy_Lipoatrophy v0.34 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.34 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from to Lipodystrophy, congenital generalized, type 2, MIM# 269700; MONDO:0010020; Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924; MONDO:0014402
Lipodystrophy_Lipoatrophy v0.33 BSCL2 Zornitza Stark Publications for gene: BSCL2 were set to
Lipodystrophy_Lipoatrophy v0.32 BSCL2 Zornitza Stark Mode of inheritance for gene: BSCL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.31 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11479539, 15181077, 15126564, 23564749; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700, MONDO:0010020, Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924, MONDO:0014402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7351 AFF4 Zornitza Stark Marked gene: AFF4 as ready
Mendeliome v0.7351 AFF4 Zornitza Stark Gene: aff4 has been classified as Green List (High Evidence).
Mendeliome v0.7351 AFF4 Zornitza Stark Phenotypes for gene: AFF4 were changed from to CHOPS syndrome, MIM#616368; MONDO:0014609
Mendeliome v0.7350 AFF4 Zornitza Stark Publications for gene: AFF4 were set to
Mendeliome v0.7349 AFF4 Zornitza Stark Mode of inheritance for gene: AFF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7348 AFF4 Zornitza Stark reviewed gene: AFF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25730767, 33248856, 31630891, 31058441; Phenotypes: CHOPS syndrome, MIM#616368, MONDO:0014609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.24 AFF4 Zornitza Stark Marked gene: AFF4 as ready
Hypertrichosis syndromes v0.24 AFF4 Zornitza Stark Gene: aff4 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.24 AFF4 Zornitza Stark Phenotypes for gene: AFF4 were changed from to CHOPS syndrome, MIM#616368; MONDO:0014609
Hypertrichosis syndromes v0.23 AFF4 Zornitza Stark Publications for gene: AFF4 were set to
Hypertrichosis syndromes v0.22 AFF4 Zornitza Stark Mode of inheritance for gene: AFF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3713 AFF4 Zornitza Stark edited their review of gene: AFF4: Changed mode of pathogenicity: Other; Changed publications: 25730767, 33248856, 31630891, 31058441; Changed phenotypes: CHOPS syndrome, MIM#616368, MONDO:0014609; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3713 AFF4 Zornitza Stark edited their review of gene: AFF4: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.3713 AFF4 Zornitza Stark changed review comment from: Comment when marking as ready: At least 15 unrelated individuals reported.; to: Comment when marking as ready: At least 15 unrelated individuals reported.

CdL-like, clinically recognisable phenotype, characterised by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia.
Hypertrichosis syndromes v0.21 AFF4 Zornitza Stark reviewed gene: AFF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25730767, 33248856, 31630891, 31058441; Phenotypes: CHOPS syndrome, MIM#616368, MONDO:0014609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3713 AFF4 Zornitza Stark Marked gene: AFF4 as ready
Intellectual disability syndromic and non-syndromic v0.3713 AFF4 Zornitza Stark Added comment: Comment when marking as ready: At least 15 unrelated individuals reported.
Intellectual disability syndromic and non-syndromic v0.3713 AFF4 Zornitza Stark Gene: aff4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3713 AFF4 Zornitza Stark Phenotypes for gene: AFF4 were changed from CHOPS syndrome, MIM#616368 to CHOPS syndrome, MIM#616368; MONDO:0014609
Intellectual disability syndromic and non-syndromic v0.3712 AFF4 Zornitza Stark Publications for gene: AFF4 were set to 25730767
Intellectual disability syndromic and non-syndromic v0.3711 AFF4 Zornitza Stark Phenotypes for gene: AFF4 were changed from to CHOPS syndrome, MIM#616368
Intellectual disability syndromic and non-syndromic v0.3710 AFF4 Zornitza Stark Publications for gene: AFF4 were set to
Intellectual disability syndromic and non-syndromic v0.3709 AFF4 Zornitza Stark Mode of pathogenicity for gene: AFF4 was changed from to Other
Intellectual disability syndromic and non-syndromic v0.3708 AFF4 Zornitza Stark Mode of inheritance for gene: AFF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3707 AFF4 Teresa Zhao reviewed gene: AFF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25730767; Phenotypes: CHOPS syndrome, MIM#616368; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7348 DNAJB13 Zornitza Stark Classified gene: DNAJB13 as Green List (high evidence)
Mendeliome v0.7348 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Green List (High Evidence).
Mendeliome v0.7347 DNAJB13 Zornitza Stark changed review comment from: Additional individual identified by VCGS laboratory, homozygous LoF variant.; to: Additional individual identified by VCGS laboratory, homozygous LoF variant and PCD.
Mendeliome v0.7347 DNAJB13 Zornitza Stark changed review comment from: Additional individual identified by VCGS laboratory.; to: Additional individual identified by VCGS laboratory, homozygous LoF variant.
Mendeliome v0.7347 DNAJB13 Zornitza Stark edited their review of gene: DNAJB13: Added comment: Additional individual identified by VCGS laboratory.; Changed rating: GREEN
Ciliary Dyskinesia v1.5 DNAJB13 Zornitza Stark Classified gene: DNAJB13 as Green List (high evidence)
Ciliary Dyskinesia v1.5 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1066 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Genetic Epilepsy v0.1066 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1066 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities MIM#615474
Genetic Epilepsy v0.1065 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Genetic Epilepsy v0.1064 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7347 GCGR Zornitza Stark Marked gene: GCGR as ready
Mendeliome v0.7347 GCGR Zornitza Stark Gene: gcgr has been classified as Green List (High Evidence).
Mendeliome v0.7347 GCGR Zornitza Stark Classified gene: GCGR as Green List (high evidence)
Mendeliome v0.7347 GCGR Zornitza Stark Gene: gcgr has been classified as Green List (High Evidence).
Mendeliome v0.7346 GCGR Zornitza Stark gene: GCGR was added
gene: GCGR was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: GCGR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCGR were set to 19657311; 25695890; 27933176; 30032256; 30294546
Phenotypes for gene: GCGR were set to Mahvash disease, MIM# 619290
Review for gene: GCGR was set to GREEN
Added comment: Mahvash disease (MVAH) is caused by inactivating mutations in the glucagon receptor, leading to alpha-cell hyperplasia of the pancreas, hyperglucagonaemia without glucagonoma syndrome, and occasional hypoglycaemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumours.

More than 5 unrelated families reported.
Sources: Expert list
Red cell disorders v0.6 VPS4A Zornitza Stark Phenotypes for gene: VPS4A were changed from syndromic congenital dyserythropoietic anaemia to CIMDAG syndrome MIM# 619273
Red cell disorders v0.5 VPS4A Zornitza Stark edited their review of gene: VPS4A: Changed phenotypes: CIMDAG syndrome MIM# 619273
Dystonia and Chorea v0.172 VPS4A Zornitza Stark Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273
Dystonia and Chorea v0.171 VPS4A Zornitza Stark reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3707 VPS4A Zornitza Stark Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273
Intellectual disability syndromic and non-syndromic v0.3706 VPS4A Zornitza Stark reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1063 VPS4A Zornitza Stark Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273
Genetic Epilepsy v0.1062 VPS4A Zornitza Stark reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.5 VPS4A Zornitza Stark Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273
Microcephaly v1.4 VPS4A Zornitza Stark reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7345 VPS4A Zornitza Stark Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273
Mendeliome v0.7344 VPS4A Zornitza Stark reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v1.6 VPS4A Zornitza Stark Phenotypes for gene: VPS4A were changed from Neurodevelopmental disorder to CIMDAG syndrome MIM# 619273
Cerebellar and Pontocerebellar Hypoplasia v1.5 VPS4A Zornitza Stark reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v1.12 MED27 Zornitza Stark Marked gene: MED27 as ready
Hereditary Spastic Paraplegia v1.12 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.12 MED27 Zornitza Stark Classified gene: MED27 as Green List (high evidence)
Hereditary Spastic Paraplegia v1.12 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.11 MED27 Zornitza Stark gene: MED27 was added
gene: MED27 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
Review for gene: MED27 was set to GREEN
Added comment: 16 individuals from 11 families reported with this disorder, spasticity is a prominent feature.
Sources: Literature
Cataract v0.276 MED27 Zornitza Stark Marked gene: MED27 as ready
Cataract v0.276 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Cataract v0.276 MED27 Zornitza Stark Classified gene: MED27 as Green List (high evidence)
Cataract v0.276 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Cataract v0.275 MED27 Zornitza Stark gene: MED27 was added
gene: MED27 was added to Cataract. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
Review for gene: MED27 was set to GREEN
Added comment: 16 individuals from 11 families reported.
Sources: Literature
Dystonia and Chorea v0.171 MED27 Zornitza Stark reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.5 MED27 Zornitza Stark Marked gene: MED27 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.5 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.5 MED27 Zornitza Stark Phenotypes for gene: MED27 were changed from Intellectual disability; cerebellar hypoplasia; dystonia to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
Mendeliome v0.7344 MED27 Zornitza Stark Phenotypes for gene: MED27 were changed from Intellectual disability; cerebellar hypoplasia; dystonia to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
Mendeliome v0.7343 MED27 Zornitza Stark reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.4 MED27 Zornitza Stark reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3706 MED27 Zornitza Stark Phenotypes for gene: MED27 were changed from Intellectual disability; cerebellar hypoplasia; dystonia to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
Intellectual disability syndromic and non-syndromic v0.3705 MED27 Zornitza Stark reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1062 CACNA1D Teresa Zhao reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25620733, 28472301, 31139143; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities MIM#615474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliary Dyskinesia v1.4 DNAJB13 Ain Roesley reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 34 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.31 BLM Zornitza Stark Marked gene: BLM as ready
Lipodystrophy_Lipoatrophy v0.31 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.31 BLM Zornitza Stark Phenotypes for gene: BLM were changed from to Bloom syndrome, MIM# 210900
Lipodystrophy_Lipoatrophy v0.30 BLM Zornitza Stark Publications for gene: BLM were set to
Lipodystrophy_Lipoatrophy v0.29 BLM Zornitza Stark Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.28 BLM Zornitza Stark reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7343 ABCB6 Zornitza Stark Marked gene: ABCB6 as ready
Mendeliome v0.7343 ABCB6 Zornitza Stark Gene: abcb6 has been classified as Green List (High Evidence).
Mendeliome v0.7343 ABCB6 Zornitza Stark Phenotypes for gene: ABCB6 were changed from to Pseudohyperkalemia, familial, 2, due to red cell leak, MIM# 609153; Microphthalmia, isolated, with coloboma 7, MIM# 614497; Dyschromatosis universalis hereditaria 3, MIM# 615402
Mendeliome v0.7342 ABCB6 Zornitza Stark Publications for gene: ABCB6 were set to
Mendeliome v0.7341 ABCB6 Zornitza Stark Mode of inheritance for gene: ABCB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7340 ABCB6 Zornitza Stark reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23180570; Phenotypes: Pseudohyperkalemia, familial, 2, due to red cell leak, MIM# 609153, Microphthalmia, isolated, with coloboma 7, MIM# 614497, Dyschromatosis universalis hereditaria 3, MIM# 615402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7340 ABCA1 Zornitza Stark Marked gene: ABCA1 as ready
Mendeliome v0.7340 ABCA1 Zornitza Stark Gene: abca1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.7340 PRDM15 Zornitza Stark Marked gene: PRDM15 as ready
Mendeliome v0.7340 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7340 PRDM15 Zornitza Stark Classified gene: PRDM15 as Amber List (moderate evidence)
Mendeliome v0.7340 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7339 PRDM15 Zornitza Stark gene: PRDM15 was added
gene: PRDM15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 31950080
Phenotypes for gene: PRDM15 were set to Steroid resistant nephrotic syndrome; Holoprosencephaly
Review for gene: PRDM15 was set to AMBER
Added comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic SRNS including HPE, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data focused on the brain phenotype. Two additional homozygous missense identified with isolated SRNS.
Sources: Literature
Proteinuria v0.162 PRDM15 Zornitza Stark Marked gene: PRDM15 as ready
Proteinuria v0.162 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.162 PRDM15 Zornitza Stark Classified gene: PRDM15 as Amber List (moderate evidence)
Proteinuria v0.162 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.161 PRDM15 Zornitza Stark gene: PRDM15 was added
gene: PRDM15 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 31950080
Phenotypes for gene: PRDM15 were set to Steroid resistant nephrotic syndrome
Review for gene: PRDM15 was set to AMBER
Added comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic SRNS including HPE, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data focused on the brain phenotype.

Two additional homozygous missense identified with isolated SRNS.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.83 PRDM15 Zornitza Stark changed review comment from: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data.
Sources: Literature; to: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data.

Two additional homozygous missense identified with isolated SRNS.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.83 PRDM15 Zornitza Stark Marked gene: PRDM15 as ready
Holoprosencephaly and septo-optic dysplasia v0.83 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.83 PRDM15 Zornitza Stark Classified gene: PRDM15 as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v0.83 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.82 PRDM15 Zornitza Stark gene: PRDM15 was added
gene: PRDM15 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 31950080
Phenotypes for gene: PRDM15 were set to Holoprosenephaly; Steroid resistant nephrotic syndrome; Multiple congenital anomalies
Review for gene: PRDM15 was set to AMBER
Added comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.81 PLCH1 Zornitza Stark Marked gene: PLCH1 as ready
Holoprosencephaly and septo-optic dysplasia v0.81 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7338 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Mendeliome v0.7338 ZIC2 Zornitza Stark Gene: zic2 has been classified as Green List (High Evidence).
Mendeliome v0.7338 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from to Holoprosencephaly 5, MIM# 609637; MONDO:0012322
Mendeliome v0.7337 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
Mendeliome v0.7336 ZIC2 Zornitza Stark Mode of inheritance for gene: ZIC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7335 ZIC2 Zornitza Stark reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771712, 11285244; Phenotypes: Holoprosencephaly 5, MIM# 609637, MONDO:0012322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.81 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Holoprosencephaly and septo-optic dysplasia v0.81 ZIC2 Zornitza Stark Gene: zic2 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.81 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from to Holoprosencephaly 5, MIM# 609637; MONDO:0012322
Holoprosencephaly and septo-optic dysplasia v0.80 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
Holoprosencephaly and septo-optic dysplasia v0.79 ZIC2 Zornitza Stark Mode of inheritance for gene: ZIC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.78 ZIC2 Zornitza Stark reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771712, 11285244; Phenotypes: Holoprosencephaly 5, MIM# 609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.285 TGIF1 Zornitza Stark Marked gene: TGIF1 as ready
Callosome v0.285 TGIF1 Zornitza Stark Gene: tgif1 has been classified as Green List (High Evidence).
Callosome v0.285 TGIF1 Zornitza Stark Phenotypes for gene: TGIF1 were changed from to Holoprosencephaly 4, MIM# 142946; MONDO:0007734
Callosome v0.284 TGIF1 Zornitza Stark Publications for gene: TGIF1 were set to
Callosome v0.283 TGIF1 Zornitza Stark Mode of inheritance for gene: TGIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.282 TGIF1 Zornitza Stark reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835638, 16323008; Phenotypes: Holoprosencephaly 4, MIM# 142946, MONDO:0007734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3705 TGIF1 Zornitza Stark Marked gene: TGIF1 as ready
Intellectual disability syndromic and non-syndromic v0.3705 TGIF1 Zornitza Stark Gene: tgif1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3705 TGIF1 Zornitza Stark Phenotypes for gene: TGIF1 were changed from to Holoprosencephaly 4, MIM# 142946; MONDO:0007734
Intellectual disability syndromic and non-syndromic v0.3704 TGIF1 Zornitza Stark Publications for gene: TGIF1 were set to
Intellectual disability syndromic and non-syndromic v0.3703 TGIF1 Zornitza Stark Mode of inheritance for gene: TGIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3702 TGIF1 Zornitza Stark reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835638, 16323008; Phenotypes: Holoprosencephaly 4, MIM# 142946, MONDO:0007734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7335 TGIF1 Zornitza Stark Marked gene: TGIF1 as ready
Mendeliome v0.7335 TGIF1 Zornitza Stark Gene: tgif1 has been classified as Green List (High Evidence).
Mendeliome v0.7335 TGIF1 Zornitza Stark Phenotypes for gene: TGIF1 were changed from to Holoprosencephaly 4, MIM# 142946; MONDO:0007734
Mendeliome v0.7334 TGIF1 Zornitza Stark Publications for gene: TGIF1 were set to
Mendeliome v0.7333 TGIF1 Zornitza Stark Mode of inheritance for gene: TGIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7332 TGIF1 Zornitza Stark reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835638, 16323008; Phenotypes: Holoprosencephaly 4, MIM# 142946, MONDO:0007734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.78 TGIF1 Zornitza Stark Marked gene: TGIF1 as ready
Holoprosencephaly and septo-optic dysplasia v0.78 TGIF1 Zornitza Stark Gene: tgif1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.78 TGIF1 Zornitza Stark Phenotypes for gene: TGIF1 were changed from to Holoprosencephaly 4, MIM# 142946; MONDO:0007734
Holoprosencephaly and septo-optic dysplasia v0.77 TGIF1 Zornitza Stark Publications for gene: TGIF1 were set to
Holoprosencephaly and septo-optic dysplasia v0.76 TGIF1 Zornitza Stark Mode of inheritance for gene: TGIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.75 TGIF1 Zornitza Stark reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835638, 16323008; Phenotypes: Holoprosencephaly 4, MIM# 142946, MONDO:0007734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7332 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Mendeliome v0.7332 SIX3 Zornitza Stark Gene: six3 has been classified as Green List (High Evidence).
Mendeliome v0.7332 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM# 157170; MONDO:0007999
Mendeliome v0.7331 SIX3 Zornitza Stark Publications for gene: SIX3 were set to
Mendeliome v0.7330 SIX3 Zornitza Stark Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7329 SIX3 Zornitza Stark reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369266, 16323008, 19346217; Phenotypes: Holoprosencephaly 2, MIM# 157170, MONDO:0007999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.75 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Holoprosencephaly and septo-optic dysplasia v0.75 SIX3 Zornitza Stark Gene: six3 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.75 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM# 157170; MONDO:0007999
Holoprosencephaly and septo-optic dysplasia v0.74 SIX3 Zornitza Stark Publications for gene: SIX3 were set to
Holoprosencephaly and septo-optic dysplasia v0.73 SIX3 Zornitza Stark Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.72 SIX3 Zornitza Stark reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369266, 16323008, 19346217; Phenotypes: Holoprosencephaly 2, MIM# 157170, MONDO:0007999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.72 PTCH1 Zornitza Stark Marked gene: PTCH1 as ready
Holoprosencephaly and septo-optic dysplasia v0.72 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.72 PTCH1 Zornitza Stark Phenotypes for gene: PTCH1 were changed from to Holoprosencephaly 7, MIM# 610828
Holoprosencephaly and septo-optic dysplasia v0.71 PTCH1 Zornitza Stark Publications for gene: PTCH1 were set to
Holoprosencephaly and septo-optic dysplasia v0.70 PTCH1 Zornitza Stark Mode of inheritance for gene: PTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.69 PTCH1 Zornitza Stark reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11941477, 17001668, 29575684; Phenotypes: Holoprosencephaly 7, MIM# 610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.69 GLI2 Zornitza Stark Marked gene: GLI2 as ready
Holoprosencephaly and septo-optic dysplasia v0.69 GLI2 Zornitza Stark Gene: gli2 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.69 GLI2 Zornitza Stark Mode of inheritance for gene: GLI2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.68 GLI2 Zornitza Stark Publications for gene: GLI2 were set to
Holoprosencephaly and septo-optic dysplasia v0.67 GLI2 Zornitza Stark Phenotypes for gene: GLI2 were changed from to Holoprosencephaly 9, MIM# 610829; MONDO:0012563
Holoprosencephaly and septo-optic dysplasia v0.66 GLI2 Zornitza Stark reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14581620, 17096318, 33235745, 27585885; Phenotypes: Holoprosencephaly 9, MIM# 610829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.66 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Holoprosencephaly and septo-optic dysplasia v0.66 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.66 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from to Hartsfield syndrome, MIM# 615465
Holoprosencephaly and septo-optic dysplasia v0.65 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.64 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartsfield syndrome, MIM# 615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.64 FGF8 Zornitza Stark Marked gene: FGF8 as ready
Holoprosencephaly and septo-optic dysplasia v0.64 FGF8 Zornitza Stark Gene: fgf8 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.64 FGF8 Zornitza Stark Phenotypes for gene: FGF8 were changed from to Holoprosencephaly; MONDO:0016296
Holoprosencephaly and septo-optic dysplasia v0.63 FGF8 Zornitza Stark Publications for gene: FGF8 were set to
Holoprosencephaly and septo-optic dysplasia v0.62 FGF8 Zornitza Stark Mode of inheritance for gene: FGF8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.61 FGF8 Zornitza Stark edited their review of gene: FGF8: Changed phenotypes: Holoprosencephaly, MONDO:0016296
Holoprosencephaly and septo-optic dysplasia v0.61 FGF8 Zornitza Stark reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27363716, 29584859; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.61 DISP1 Zornitza Stark Marked gene: DISP1 as ready
Holoprosencephaly and septo-optic dysplasia v0.61 DISP1 Zornitza Stark Gene: disp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7329 DISP1 Zornitza Stark Marked gene: DISP1 as ready
Mendeliome v0.7329 DISP1 Zornitza Stark Gene: disp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7329 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from to Holoprosencephaly
Mendeliome v0.7328 DISP1 Zornitza Stark Publications for gene: DISP1 were set to
Mendeliome v0.7327 DISP1 Zornitza Stark Mode of inheritance for gene: DISP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7326 DISP1 Zornitza Stark Classified gene: DISP1 as Amber List (moderate evidence)
Mendeliome v0.7326 DISP1 Zornitza Stark Gene: disp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7325 DISP1 Zornitza Stark reviewed gene: DISP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19184110, 26748417, 23542665; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.61 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from to Holoprosencephaly
Holoprosencephaly and septo-optic dysplasia v0.60 DISP1 Zornitza Stark Mode of inheritance for gene: DISP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.59 DISP1 Zornitza Stark Mode of pathogenicity for gene: DISP1 was changed from to Other
Holoprosencephaly and septo-optic dysplasia v0.58 DISP1 Zornitza Stark Publications for gene: DISP1 were set to
Holoprosencephaly and septo-optic dysplasia v0.57 DISP1 Zornitza Stark Classified gene: DISP1 as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v0.57 DISP1 Zornitza Stark Gene: disp1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.56 DISP1 Zornitza Stark reviewed gene: DISP1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 19184110, 26748417, 23542665; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v1.5 CDON Zornitza Stark Phenotypes for gene: CDON were changed from Holoprosencephaly 11 MIM#614226 to Coloboma
Holoprosencephaly and septo-optic dysplasia v0.56 CDON Zornitza Stark Marked gene: CDON as ready
Holoprosencephaly and septo-optic dysplasia v0.56 CDON Zornitza Stark Gene: cdon has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.56 CDON Zornitza Stark Phenotypes for gene: CDON were changed from to Holoprosencephaly 11, MIM# 614226; MONDO:0013642
Holoprosencephaly and septo-optic dysplasia v0.55 CDON Zornitza Stark Publications for gene: CDON were set to
Holoprosencephaly and septo-optic dysplasia v0.54 CDON Zornitza Stark Mode of inheritance for gene: CDON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.53 CDON Zornitza Stark edited their review of gene: CDON: Changed phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642
Holoprosencephaly and septo-optic dysplasia v0.53 CDON Zornitza Stark changed review comment from: >5 unrelated families reported, however note some of the variants are present at a very low frequenting 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.
Holoprosencephaly and septo-optic dysplasia v0.53 CDON Zornitza Stark reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v1.0 Zornitza Stark promoted panel to version 1.0
Radial Ray Abnormalities v0.150 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Radial Ray Abnormalities v0.150 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.150 FGFR2 Zornitza Stark Classified gene: FGFR2 as Green List (high evidence)
Radial Ray Abnormalities v0.150 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.149 TBX3 Zornitza Stark Marked gene: TBX3 as ready
Radial Ray Abnormalities v0.149 TBX3 Zornitza Stark Gene: tbx3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.149 TBX3 Zornitza Stark Phenotypes for gene: TBX3 were changed from to Ulnar-mammary syndrome, MIM# 181450; MONDO:0008411
Radial Ray Abnormalities v0.148 TBX3 Zornitza Stark Publications for gene: TBX3 were set to
Radial Ray Abnormalities v0.147 TBX3 Zornitza Stark Mode of inheritance for gene: TBX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7325 TBX3 Zornitza Stark Marked gene: TBX3 as ready
Mendeliome v0.7325 TBX3 Zornitza Stark Gene: tbx3 has been classified as Green List (High Evidence).
Mendeliome v0.7325 TBX3 Zornitza Stark Phenotypes for gene: TBX3 were changed from to Ulnar-mammary syndrome, MIM# 181450; MONDO:0008411
Mendeliome v0.7324 TBX3 Zornitza Stark Publications for gene: TBX3 were set to
Mendeliome v0.7323 TBX3 Zornitza Stark Mode of inheritance for gene: TBX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7322 TBX3 Zornitza Stark reviewed gene: TBX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9207801, 19938096, 28145909; Phenotypes: Ulnar-mammary syndrome, MIM# 181450, MONDO:0008411; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.146 TBX3 Zornitza Stark reviewed gene: TBX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9207801, 19938096, 28145909; Phenotypes: Ulnar-mammary syndrome, MIM# 181450, MONDO:0008411; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.146 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Radial Ray Abnormalities v0.146 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.146 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anaemia, complementation group P, MIM# 613951; MONDO:0013499
Radial Ray Abnormalities v0.145 SLX4 Zornitza Stark Publications for gene: SLX4 were set to
Radial Ray Abnormalities v0.144 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.143 SLX4 Zornitza Stark edited their review of gene: SLX4: Changed phenotypes: Fanconi anaemia, complementation group P, MIM# 613951, MONDO:0013499
Radial Ray Abnormalities v0.143 SLX4 Zornitza Stark edited their review of gene: SLX4: Changed phenotypes: Fanconi anaemia, complementation group P, MIM# 613951
Radial Ray Abnormalities v0.143 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Radial Ray Abnormalities v0.143 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.143 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from to Duane-radial ray syndrome, MIM# 607323; MONDO:0011812; IVIC syndrome, MIM# 147750; MONDO:0007836
Radial Ray Abnormalities v0.142 SALL4 Zornitza Stark Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.141 SALL4 Zornitza Stark reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duane-radial ray syndrome, MIM# 607323, MONDO:0011812, IVIC syndrome, MIM# 147750, MONDO:0007836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7322 SALL1 Zornitza Stark Marked gene: SALL1 as ready
Mendeliome v0.7322 SALL1 Zornitza Stark Gene: sall1 has been classified as Green List (High Evidence).
Mendeliome v0.7322 SALL1 Zornitza Stark Phenotypes for gene: SALL1 were changed from to Townes-Brocks syndrome 1, MIM#107480; MONDO:0054581
Mendeliome v0.7321 SALL1 Zornitza Stark Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7320 SALL1 Zornitza Stark reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480, MONDO:0054581; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.141 SALL1 Zornitza Stark Marked gene: SALL1 as ready
Radial Ray Abnormalities v0.141 SALL1 Zornitza Stark Gene: sall1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.141 SALL1 Zornitza Stark Phenotypes for gene: SALL1 were changed from to Townes-Brocks syndrome 1, MIM#107480; MONDO:0054581
Radial Ray Abnormalities v0.140 SALL1 Zornitza Stark Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.139 SALL1 Zornitza Stark edited their review of gene: SALL1: Added comment: Well established gene-disease association.; Changed phenotypes: Townes-Brocks syndrome 1, MIM#107480, MONDO:0054581
Radial Ray Abnormalities v0.139 SALL1 Zornitza Stark reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, 107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.139 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Radial Ray Abnormalities v0.139 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.139 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from to Diamond-Blackfan anaemia 8, MIM# 612563; MONDO:0012939
Radial Ray Abnormalities v0.138 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Radial Ray Abnormalities v0.137 RPS7 Zornitza Stark Mode of inheritance for gene: RPS7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.136 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Radial Ray Abnormalities v0.136 RPS26 Zornitza Stark Gene: rps26 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.136 RPS26 Zornitza Stark Phenotypes for gene: RPS26 were changed from to Diamond-Blackfan anaemia 10, MIM# 613309; MONDO:0013217
Radial Ray Abnormalities v0.135 RPS26 Zornitza Stark Publications for gene: RPS26 were set to
Radial Ray Abnormalities v0.134 RPS26 Zornitza Stark Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.133 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Radial Ray Abnormalities v0.133 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.133 RPS24 Zornitza Stark Phenotypes for gene: RPS24 were changed from to Diamond-blackfan anaemia 3, MIM# 610629; MONDO:0012529
Radial Ray Abnormalities v0.132 RPS24 Zornitza Stark Publications for gene: RPS24 were set to
Radial Ray Abnormalities v0.131 RPS24 Zornitza Stark Mode of inheritance for gene: RPS24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.130 RPS24 Zornitza Stark changed review comment from: At least 3 unrelated individuals reported.; to: At least 3 unrelated individuals reported. Thumb abnormalities are a feature.
Radial Ray Abnormalities v0.130 RPS24 Zornitza Stark edited their review of gene: RPS24: Changed phenotypes: Diamond-blackfan anaemia 3, MIM# 610629, MONDO:0012529
Radial Ray Abnormalities v0.130 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110 to Diamond-Blackfan anaemia 1, MIM# 105650; MONDO:0007110
Bone Marrow Failure v0.217 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from Diamond-Blackfan anemia 4, MIM# 612527 to Diamond-Blackfan anaemia 4, MIM# 612527; MONDO:0012924
Mendeliome v0.7320 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from Diamond-Blackfan anemia 4, MIM# 612527 to Diamond-Blackfan anaemia 4, MIM# 612527; MONDO:0012924
Radial Ray Abnormalities v0.129 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from Diamond-Blackfan anemia 4, MIM# 612527 to Diamond-Blackfan anaemia 4, MIM# 612527; MONDO:0012924
Radial Ray Abnormalities v0.128 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Radial Ray Abnormalities v0.128 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.128 RPS10 Zornitza Stark Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anemia 9, MIM# 613308; MONDO:0013216
Radial Ray Abnormalities v0.127 RPS10 Zornitza Stark Publications for gene: RPS10 were set to
Radial Ray Abnormalities v0.126 RPS10 Zornitza Stark Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.125 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Radial Ray Abnormalities v0.125 RPL5 Zornitza Stark Gene: rpl5 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.125 RPL5 Zornitza Stark Phenotypes for gene: RPL5 were changed from to Diamond-Blackfan anaemia 6, MIM# 612561; MONDO:0012937
Radial Ray Abnormalities v0.124 RPL5 Zornitza Stark Publications for gene: RPL5 were set to
Radial Ray Abnormalities v0.123 RPL5 Zornitza Stark Mode of inheritance for gene: RPL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.122 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Radial Ray Abnormalities v0.122 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Bone Marrow Failure v0.216 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anemia 5, MIM# 612528 to Diamond-Blackfan anemia 5, MIM# 612528; MONDO:0012925
Bone Marrow Failure v0.215 RPL35A Zornitza Stark Tag SV/CNV tag was added to gene: RPL35A.
Mendeliome v0.7319 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anemia 5, MIM# 612528 to Diamond-Blackfan anemia 5, MIM# 612528; MONDO:0012925
Mendeliome v0.7318 RPL35A Zornitza Stark edited their review of gene: RPL35A: Changed phenotypes: Diamond-Blackfan anemia 5, MIM# 612528, MONDO:0012925
Radial Ray Abnormalities v0.122 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anaemia 5, MIM# 612528 to Diamond-Blackfan anaemia 5, MIM# 612528; MONDO:0012925
Radial Ray Abnormalities v0.121 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from to Diamond-Blackfan anaemia 5, MIM# 612528
Radial Ray Abnormalities v0.120 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Radial Ray Abnormalities v0.119 RPL35A Zornitza Stark Mode of inheritance for gene: RPL35A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.118 RPL35A Zornitza Stark Tag SV/CNV tag was added to gene: RPL35A.
Radial Ray Abnormalities v0.118 RPL11 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, thumb abnormalities are a feature.
Radial Ray Abnormalities v0.118 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Radial Ray Abnormalities v0.118 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.118 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anaemia 7, MIM# 612562; MONDO:0012938
Radial Ray Abnormalities v0.117 RPL11 Zornitza Stark Publications for gene: RPL11 were set to
Radial Ray Abnormalities v0.116 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.115 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Radial Ray Abnormalities v0.115 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.115 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from to Fanconi anaemia, complementation group N, MIM# 610832
Radial Ray Abnormalities v0.114 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.114 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.113 FANCI Zornitza Stark Marked gene: FANCI as ready
Radial Ray Abnormalities v0.113 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.113 FANCL Zornitza Stark Marked gene: FANCL as ready
Radial Ray Abnormalities v0.113 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.113 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
Radial Ray Abnormalities v0.113 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
Radial Ray Abnormalities v0.112 FANCL Zornitza Stark Publications for gene: FANCL were set to
Radial Ray Abnormalities v0.111 FANCI Zornitza Stark Publications for gene: FANCI were set to
Radial Ray Abnormalities v0.110 FANCL Zornitza Stark Mode of inheritance for gene: FANCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.110 FANCI Zornitza Stark Mode of inheritance for gene: FANCI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.109 FANCF Zornitza Stark Marked gene: FANCF as ready
Radial Ray Abnormalities v0.109 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.109 FANCG Zornitza Stark Marked gene: FANCG as ready
Radial Ray Abnormalities v0.109 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.109 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Radial Ray Abnormalities v0.108 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Radial Ray Abnormalities v0.108 FANCG Zornitza Stark Publications for gene: FANCG were set to
Radial Ray Abnormalities v0.107 FANCF Zornitza Stark Publications for gene: FANCF were set to
Radial Ray Abnormalities v0.107 FANCG Zornitza Stark Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.106 FANCF Zornitza Stark Mode of inheritance for gene: FANCF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.105 FANCE Zornitza Stark Marked gene: FANCE as ready
Radial Ray Abnormalities v0.105 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.105 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
Radial Ray Abnormalities v0.104 FANCE Zornitza Stark Publications for gene: FANCE were set to
Radial Ray Abnormalities v0.103 FANCE Zornitza Stark Mode of inheritance for gene: FANCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7318 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anemia, complementation group D2, MIM#227646 to Fanconi anemia, complementation group D2, MIM#227646; MONDO:0009214
Radial Ray Abnormalities v0.102 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Radial Ray Abnormalities v0.102 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.102 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anaemia, complementation group D2, MIM# 227646 to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
Radial Ray Abnormalities v0.101 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anaemia, complementation group D2, MIM# 227646
Radial Ray Abnormalities v0.100 FANCD2 Zornitza Stark Publications for gene: FANCD2 were set to
Radial Ray Abnormalities v0.99 FANCD2 Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.98 FANCC Zornitza Stark Marked gene: FANCC as ready
Radial Ray Abnormalities v0.98 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.98 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from to Fanconi anaemia, complementation group C, MIM# 227645; MONDO:0009213
Radial Ray Abnormalities v0.97 FANCC Zornitza Stark Publications for gene: FANCC were set to
Radial Ray Abnormalities v0.96 FANCC Zornitza Stark Mode of inheritance for gene: FANCC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.95 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Radial Ray Abnormalities v0.95 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.95 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi aanemia, complementation group Q, MIM# 615272; MONDO:0014108
Radial Ray Abnormalities v0.94 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Radial Ray Abnormalities v0.93 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.92 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi aanemia, complementation group Q, MIM# 615272, MONDO:0014108
Radial Ray Abnormalities v0.92 ERCC4 Zornitza Stark Deleted their comment
Radial Ray Abnormalities v0.92 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Added comment: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects.; Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108
Radial Ray Abnormalities v0.91 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Radial Ray Abnormalities v0.91 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.91 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054
Radial Ray Abnormalities v0.90 BRIP1 Zornitza Stark Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.89 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Radial Ray Abnormalities v0.89 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.89 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Fanconi anaemia, complementation group D1, MIM# 605724
Radial Ray Abnormalities v0.88 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.87 BRCA2 Zornitza Stark edited their review of gene: BRCA2: Changed phenotypes: Fanconi anaemia, complementation group D1, MIM# 605724
Photosensitivity Syndromes v1.0 Zornitza Stark promoted panel to version 1.0
Photosensitivity Syndromes v0.55 XPC Zornitza Stark Marked gene: XPC as ready
Photosensitivity Syndromes v0.55 XPC Zornitza Stark Gene: xpc has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.55 XPC Zornitza Stark Phenotypes for gene: XPC were changed from to Xeroderma pigmentosum, group C, MIM# 278720; MONDO:0010211
Photosensitivity Syndromes v0.54 XPC Zornitza Stark Publications for gene: XPC were set to
Photosensitivity Syndromes v0.53 XPC Zornitza Stark Mode of inheritance for gene: XPC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.52 XPA Zornitza Stark Marked gene: XPA as ready
Photosensitivity Syndromes v0.52 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.52 XPA Zornitza Stark Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A , MIM#278700; MONDO:0010210
Photosensitivity Syndromes v0.51 XPA Zornitza Stark Publications for gene: XPA were set to
Photosensitivity Syndromes v0.50 XPA Zornitza Stark Mode of inheritance for gene: XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.49 TYR Zornitza Stark Marked gene: TYR as ready
Photosensitivity Syndromes v0.49 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Photosensitivity Syndromes v0.49 TYR Zornitza Stark Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100
Photosensitivity Syndromes v0.48 TYR Zornitza Stark Classified gene: TYR as Red List (low evidence)
Photosensitivity Syndromes v0.48 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Photosensitivity Syndromes v0.47 TYR Zornitza Stark reviewed gene: TYR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, MIM# 203100; Mode of inheritance: None
Photosensitivity Syndromes v0.47 RECQL4 Zornitza Stark Publications for gene: RECQL4 were set to 12838562; 10319867; 20503338; 18716613; 18616953
Photosensitivity Syndromes v0.46 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Photosensitivity Syndromes v0.46 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.46 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569; UV-sensitive syndrome 2, MIM# 614621; MONDO:0013829
Photosensitivity Syndromes v0.45 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to
Photosensitivity Syndromes v0.44 ERCC8 Zornitza Stark Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.43 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Photosensitivity Syndromes v0.43 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.43 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from to Cerebrooculofacioskeletal syndrome 1, MIM# 214150; MONDO:0008955; Cockayne syndrome, type B, MIM# 133540; MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800; MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630; MONDO:0010909
Photosensitivity Syndromes v0.42 ERCC6 Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.41 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Photosensitivity Syndromes v0.41 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.41 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Photosensitivity Syndromes v0.40 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to
Photosensitivity Syndromes v0.39 ERCC5 Zornitza Stark Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.38 ERCC5 Zornitza Stark changed review comment from: Well established gene-disease association, spectrum of severity, including antenatal presentation with arthrogryposis.; to: Well established gene-disease association, spectrum of severity, photosensitivity is a feature.
Photosensitivity Syndromes v0.38 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Photosensitivity Syndromes v0.38 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.38 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi anaemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590
Photosensitivity Syndromes v0.37 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Photosensitivity Syndromes v0.36 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.35 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Photosensitivity Syndromes v0.35 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.35 ERCC3 Zornitza Stark Phenotypes for gene: ERCC3 were changed from to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651
Photosensitivity Syndromes v0.34 ERCC3 Zornitza Stark Publications for gene: ERCC3 were set to
Photosensitivity Syndromes v0.33 ERCC3 Zornitza Stark Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Photosensitivity Syndromes v0.32 ERCC3 Zornitza Stark changed review comment from: Nucleotide excision repair disorder, variable severity.; to: Nucleotide excision repair disorder, variable severity, photosensitivity is a feature.
Photosensitivity Syndromes v0.32 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Photosensitivity Syndromes v0.32 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Photosensitivity Syndromes v0.32 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758
Photosensitivity Syndromes v0.31 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to
Photosensitivity Syndromes v0.30 ERCC1 Zornitza Stark Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v1.0 Zornitza Stark promoted panel to version 1.0
Chromosome Breakage Disorders v0.173 Zornitza Stark removed gene:TYR from the panel
Chromosome Breakage Disorders v0.172 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Chromosome Breakage Disorders v0.172 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.172 PNKP Zornitza Stark Marked gene: PNKP as ready
Chromosome Breakage Disorders v0.172 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.172 PNKP Zornitza Stark Classified gene: PNKP as Green List (high evidence)
Chromosome Breakage Disorders v0.172 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.171 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNKP were set to 20118933; 25728773
Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, MIM# 616267; Microcephaly, seizures, and developmental delay, MIM# 613402
Review for gene: PNKP was set to GREEN
Added comment: Enzyme involved in DNA repair.

Ataxia-oculomotor apraxia 4, MIM# 616267 typically has onset in first decade, whereas Microcephaly, seizures, and developmental delay, MIM# 613402 is congenital.
Sources: Expert Review
Mendeliome v0.7317 HELLS Zornitza Stark Marked gene: HELLS as ready
Mendeliome v0.7317 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Mendeliome v0.7317 HELLS Zornitza Stark Phenotypes for gene: HELLS were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911; MONDO:0014829
Mendeliome v0.7316 HELLS Zornitza Stark Publications for gene: HELLS were set to
Mendeliome v0.7315 HELLS Zornitza Stark Mode of inheritance for gene: HELLS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7314 HELLS Zornitza Stark reviewed gene: HELLS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26216346; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911, MONDO:0014829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.170 HELLS Zornitza Stark Marked gene: HELLS as ready
Chromosome Breakage Disorders v0.170 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.170 HELLS Zornitza Stark Classified gene: HELLS as Green List (high evidence)
Chromosome Breakage Disorders v0.170 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.169 HELLS Zornitza Stark gene: HELLS was added
gene: HELLS was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HELLS were set to 26216346
Phenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911; MONDO:0014829
Review for gene: HELLS was set to GREEN
Added comment: Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable.

At least 4 unrelated families reported.
Sources: Expert Review
Mendeliome v0.7314 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Mendeliome v0.7314 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Mendeliome v0.7314 ZBTB24 Zornitza Stark Phenotypes for gene: ZBTB24 were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553
Mendeliome v0.7313 ZBTB24 Zornitza Stark Publications for gene: ZBTB24 were set to
Mendeliome v0.7312 ZBTB24 Zornitza Stark Mode of inheritance for gene: ZBTB24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7311 ZBTB24 Zornitza Stark reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: None; Publications: 21596365, 21906047, 23486536; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069, MONDO:0013553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Classified gene: ZBTB24 as Green List (high evidence)
Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.167 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to 21596365; 21906047; 23486536
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553
Review for gene: ZBTB24 was set to GREEN
Added comment: Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and intellectual disability. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohaemagglutinin stimulation.

20 unrelated families reported.
Sources: Expert Review
Mendeliome v0.7311 CDCA7 Zornitza Stark Marked gene: CDCA7 as ready
Mendeliome v0.7311 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Mendeliome v0.7311 CDCA7 Zornitza Stark Phenotypes for gene: CDCA7 were changed from to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910; MONDO:0014828
Mendeliome v0.7310 CDCA7 Zornitza Stark Publications for gene: CDCA7 were set to
Mendeliome v0.7309 CDCA7 Zornitza Stark Mode of inheritance for gene: CDCA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7308 CDCA7 Zornitza Stark reviewed gene: CDCA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26216346; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910, MONDO:0014828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.166 CDCA7 Zornitza Stark Marked gene: CDCA7 as ready
Chromosome Breakage Disorders v0.166 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.166 CDCA7 Zornitza Stark Phenotypes for gene: CDCA7 were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910; MONDO:0014828
Chromosome Breakage Disorders v0.165 CDCA7 Zornitza Stark Classified gene: CDCA7 as Green List (high evidence)
Chromosome Breakage Disorders v0.165 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.164 CDCA7 Zornitza Stark gene: CDCA7 was added
gene: CDCA7 was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDCA7 were set to 26216346
Phenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
Review for gene: CDCA7 was set to GREEN
Added comment: Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development.

At least 4 unrelated families reported.
Sources: Expert Review
Chromosome Breakage Disorders v0.163 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Chromosome Breakage Disorders v0.163 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.163 DNMT3B Zornitza Stark Classified gene: DNMT3B as Green List (high evidence)
Chromosome Breakage Disorders v0.163 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.162 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNMT3B were set to 10647011; 23486536
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Review for gene: DNMT3B was set to GREEN
Added comment: Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes.

More than 20 unrelated families reported.
Sources: Expert Review
Chromosome Breakage Disorders v0.161 XRCC4 Zornitza Stark Marked gene: XRCC4 as ready
Chromosome Breakage Disorders v0.161 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Mendeliome v0.7308 XRCC4 Zornitza Stark Phenotypes for gene: XRCC4 were changed from Short stature, microcephaly, and endocrine dysfunction (MIM#616541) to Short stature, microcephaly, and endocrine dysfunction, MIM# 616541; MONDO:0014686
Mendeliome v0.7307 XRCC4 Zornitza Stark reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Short stature, microcephaly, and endocrine dysfunction, MIM# 616541, MONDO:0014686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.161 XRCC4 Zornitza Stark Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction, MIM# 616541; MONDO:0014686
Chromosome Breakage Disorders v0.160 XRCC4 Zornitza Stark Publications for gene: XRCC4 were set to
Chromosome Breakage Disorders v0.159 XRCC4 Zornitza Stark Mode of inheritance for gene: XRCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.158 XRCC4 Zornitza Stark reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 25728776, 25872942; Phenotypes: Short stature, microcephaly, and endocrine dysfunction, MIM# 616541, MONDO:0014686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7307 XPC Zornitza Stark Marked gene: XPC as ready
Mendeliome v0.7307 XPC Zornitza Stark Gene: xpc has been classified as Green List (High Evidence).
Mendeliome v0.7307 XPC Zornitza Stark Phenotypes for gene: XPC were changed from to Xeroderma pigmentosum, group C, MIM# 278720; MONDO:0010211
Mendeliome v0.7306 XPC Zornitza Stark Publications for gene: XPC were set to
Mendeliome v0.7305 XPC Zornitza Stark Mode of inheritance for gene: XPC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7304 XPC Zornitza Stark reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10447254; Phenotypes: Xeroderma pigmentosum, group C, MIM# 278720, MONDO:0010211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.158 XPC Zornitza Stark Marked gene: XPC as ready
Chromosome Breakage Disorders v0.158 XPC Zornitza Stark Gene: xpc has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.158 XPC Zornitza Stark Phenotypes for gene: XPC were changed from to Xeroderma pigmentosum, group C, MIM# 278720; MONDO:0010211
Chromosome Breakage Disorders v0.157 XPC Zornitza Stark Publications for gene: XPC were set to
Chromosome Breakage Disorders v0.156 XPC Zornitza Stark Mode of inheritance for gene: XPC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.155 XPC Zornitza Stark reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10447254; Phenotypes: Xeroderma pigmentosum, group C, MIM# 278720, MONDO:0010211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7304 XPA Zornitza Stark Marked gene: XPA as ready
Mendeliome v0.7304 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Mendeliome v0.7304 XPA Zornitza Stark Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A , MIM#278700; MONDO:0010210
Mendeliome v0.7303 XPA Zornitza Stark Publications for gene: XPA were set to
Mendeliome v0.7302 XPA Zornitza Stark Mode of inheritance for gene: XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7301 XPA Zornitza Stark reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2234061, 1372102; Phenotypes: Xeroderma pigmentosum, group A , MIM#278700, MONDO:0010210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.155 XPA Zornitza Stark Marked gene: XPA as ready
Chromosome Breakage Disorders v0.155 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.155 XPA Zornitza Stark Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A , MIM#278700; MONDO:0010210
Chromosome Breakage Disorders v0.154 XPA Zornitza Stark Publications for gene: XPA were set to
Chromosome Breakage Disorders v0.153 XPA Zornitza Stark Mode of inheritance for gene: XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.152 XPA Zornitza Stark reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2234061, 1372102; Phenotypes: Xeroderma pigmentosum, group A , MIM#278700, MONDO:0010210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7301 RMI2 Zornitza Stark Marked gene: RMI2 as ready
Mendeliome v0.7301 RMI2 Zornitza Stark Gene: rmi2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7301 RMI2 Zornitza Stark Phenotypes for gene: RMI2 were changed from to Bloom-like syndrome
Mendeliome v0.7300 RMI2 Zornitza Stark Publications for gene: RMI2 were set to
Mendeliome v0.7299 RMI2 Zornitza Stark Mode of inheritance for gene: RMI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7298 RMI2 Zornitza Stark Classified gene: RMI2 as Amber List (moderate evidence)
Mendeliome v0.7298 RMI2 Zornitza Stark Gene: rmi2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7297 RMI2 Zornitza Stark reviewed gene: RMI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27977684; Phenotypes: Bloom-like syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.152 RMI2 Zornitza Stark Marked gene: RMI2 as ready
Chromosome Breakage Disorders v0.152 RMI2 Zornitza Stark Gene: rmi2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.152 RMI2 Zornitza Stark Phenotypes for gene: RMI2 were changed from to Bloom-like syndrome
Chromosome Breakage Disorders v0.151 RMI2 Zornitza Stark Publications for gene: RMI2 were set to
Chromosome Breakage Disorders v0.150 RMI2 Zornitza Stark Mode of inheritance for gene: RMI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.149 RMI2 Zornitza Stark Classified gene: RMI2 as Amber List (moderate evidence)
Chromosome Breakage Disorders v0.149 RMI2 Zornitza Stark Gene: rmi2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.148 RMI2 Zornitza Stark reviewed gene: RMI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27977684; Phenotypes: Bloom-like syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.148 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Chromosome Breakage Disorders v0.148 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.148 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from to Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600
Chromosome Breakage Disorders v0.147 RECQL4 Zornitza Stark Publications for gene: RECQL4 were set to
Chromosome Breakage Disorders v0.146 RECQL4 Zornitza Stark Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.145 RECQL4 Zornitza Stark reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10319867, 12952869, 15964893; Phenotypes: Rothmund-Thomson syndrome, type 2, MIM# 268400, RAPADILINO syndrome, MIM# 266280, Baller-Gerold syndrome, MIM# 218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.86 RAD51 Zornitza Stark Marked gene: RAD51 as ready
Radial Ray Abnormalities v0.86 RAD51 Zornitza Stark Gene: rad51 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v0.86 RAD51 Zornitza Stark Classified gene: RAD51 as Amber List (moderate evidence)
Radial Ray Abnormalities v0.86 RAD51 Zornitza Stark Gene: rad51 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v0.85 RAD51 Zornitza Stark changed review comment from: Three unrelated individuals reported with de novo variants in this gene and FA phenotype.
Sources: Expert Review; to: Three unrelated individuals reported with de novo variants in this gene and FA phenotype. However, only one had radial ray abnormalities.
Sources: Expert Review
Radial Ray Abnormalities v0.85 RAD51 Zornitza Stark edited their review of gene: RAD51: Changed rating: AMBER
Radial Ray Abnormalities v0.85 RAD51 Zornitza Stark gene: RAD51 was added
gene: RAD51 was added to Radial Ray Abnormalities. Sources: Expert Review
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD51 were set to 26253028; 26681308; 30907510
Phenotypes for gene: RAD51 were set to Fanconi anaemia, complementation group R, MIM# 617244
Review for gene: RAD51 was set to GREEN
Added comment: Three unrelated individuals reported with de novo variants in this gene and FA phenotype.
Sources: Expert Review
Mendeliome v0.7297 RAD51 Zornitza Stark edited their review of gene: RAD51: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7297 RAD51 Zornitza Stark Marked gene: RAD51 as ready
Mendeliome v0.7297 RAD51 Zornitza Stark Gene: rad51 has been classified as Green List (High Evidence).
Mendeliome v0.7297 RAD51 Zornitza Stark Phenotypes for gene: RAD51 were changed from to Fanconi anaemia, complementation group R, MIM# 617244
Mendeliome v0.7296 RAD51 Zornitza Stark Publications for gene: RAD51 were set to
Mendeliome v0.7295 RAD51 Zornitza Stark Mode of inheritance for gene: RAD51 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7294 RAD51 Zornitza Stark reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: None; Publications: 26253028, 26681308, 30907510; Phenotypes: Fanconi anaemia, complementation group R, MIM# 617244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.145 RAD51 Zornitza Stark edited their review of gene: RAD51: Changed phenotypes: Fanconi anaemia, complementation group R, MIM# 617244
Chromosome Breakage Disorders v0.145 RAD51 Zornitza Stark Phenotypes for gene: RAD51 were changed from Fanconi anemia, complementation group R, MIM# 617244 to Fanconi anaemia, complementation group R, MIM# 617244
Chromosome Breakage Disorders v0.144 RAD51 Zornitza Stark Marked gene: RAD51 as ready
Chromosome Breakage Disorders v0.144 RAD51 Zornitza Stark Gene: rad51 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.144 RAD51 Zornitza Stark Phenotypes for gene: RAD51 were changed from to Fanconi anemia, complementation group R, MIM# 617244
Chromosome Breakage Disorders v0.143 RAD51 Zornitza Stark Publications for gene: RAD51 were set to
Chromosome Breakage Disorders v0.142 RAD51 Zornitza Stark Mode of inheritance for gene: RAD51 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Chromosome Breakage Disorders v0.141 RAD51 Zornitza Stark reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: None; Publications: 26253028, 26681308, 30907510; Phenotypes: Fanconi anemia, complementation group R, MIM# 617244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Photosensitivity Syndromes v0.28 POLH Zornitza Stark Phenotypes for gene: POLH were changed from Xeroderma pigmentosum, variant type, MIM# 278750 to Xeroderma pigmentosum, variant type, MIM# 278750; MONDO:0010214
Photosensitivity Syndromes v0.27 POLH Zornitza Stark edited their review of gene: POLH: Changed phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750, MONDO:0010214
Mendeliome v0.7294 POLH Zornitza Stark Marked gene: POLH as ready
Mendeliome v0.7294 POLH Zornitza Stark Gene: polh has been classified as Green List (High Evidence).
Mendeliome v0.7294 POLH Zornitza Stark Phenotypes for gene: POLH were changed from to Xeroderma pigmentosum, variant type, MIM# 278750; MONDO:0010214
Mendeliome v0.7293 POLH Zornitza Stark Publications for gene: POLH were set to
Mendeliome v0.7292 POLH Zornitza Stark Mode of inheritance for gene: POLH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7291 POLH Zornitza Stark reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: None; Publications: 10385124, 10398605; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750, MONDO:0010214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.141 POLH Zornitza Stark Marked gene: POLH as ready
Chromosome Breakage Disorders v0.141 POLH Zornitza Stark Gene: polh has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.141 POLH Zornitza Stark Phenotypes for gene: POLH were changed from to Xeroderma pigmentosum, variant type, MIM# 278750; MONDO:0010214
Chromosome Breakage Disorders v0.140 POLH Zornitza Stark Publications for gene: POLH were set to
Chromosome Breakage Disorders v0.139 POLH Zornitza Stark Mode of inheritance for gene: POLH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.138 POLH Zornitza Stark reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: None; Publications: 10385124, 10398605; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750, MONDO:0010214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.138 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Chromosome Breakage Disorders v0.138 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.138 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from to Fanconi anaemia, complementation group N, MIM# 610832
Chromosome Breakage Disorders v0.137 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.136 PALB2 Zornitza Stark reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group N, MIM# 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.282 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Callosome v0.282 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence).
Callosome v0.282 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650
Callosome v0.281 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Callosome v0.280 NHEJ1 Zornitza Stark Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.279 NHEJ1 Zornitza Stark Classified gene: NHEJ1 as Red List (low evidence)
Callosome v0.279 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence).
Callosome v0.278 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: RED; Mode of pathogenicity: None; Publications: 16439204, 16439205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.136 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Chromosome Breakage Disorders v0.136 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.136 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650
Chromosome Breakage Disorders v0.135 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Chromosome Breakage Disorders v0.134 NHEJ1 Zornitza Stark Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.133 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16439204, 16439205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.165 ACBD5 Zornitza Stark Publications for gene: ACBD5 were set to 23105016; 27799409
Syndromic Retinopathy v0.164 ACBD5 Zornitza Stark edited their review of gene: ACBD5: Added comment: PMID 33427402: additional report of 36 year old female with retinal dystrophy, leukodystrophy, and psychomotor regression that started at 3 years old and a novel homozygous variant in ACBD5 (c.1467G>A, p.Trp489*).; Changed publications: 27799409, 23105016, 33427402
Mendeliome v0.7291 NEUROD2 Zornitza Stark Phenotypes for gene: NEUROD2 were changed from Epileptic encephalopathy, early infantile, 72, MIM# 618374 to Epileptic encephalopathy, early infantile, 72, MIM# 618374; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3702 NEUROD2 Zornitza Stark Marked gene: NEUROD2 as ready
Intellectual disability syndromic and non-syndromic v0.3702 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3702 NEUROD2 Zornitza Stark Phenotypes for gene: NEUROD2 were changed from Epileptic encephalopathy, early infantile, 72, MIM# 618374 to Epileptic encephalopathy, early infantile, 72, MIM# 618374; Intellectual disability
Mendeliome v0.7290 NEUROD2 Zornitza Stark Publications for gene: NEUROD2 were set to 30323019
Mendeliome v0.7289 NEUROD2 Zornitza Stark edited their review of gene: NEUROD2: Added comment: Additional two individuals reported with de novo variants and predominantly ID phenotype.; Changed publications: 33438828, 30323019; Changed phenotypes: Epileptic encephalopathy, early infantile, 72, MIM# 618374
Intellectual disability syndromic and non-syndromic v0.3701 NEUROD2 Zornitza Stark Classified gene: NEUROD2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3701 NEUROD2 Zornitza Stark Gene: neurod2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3700 NEUROD2 Zornitza Stark gene: NEUROD2 was added
gene: NEUROD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NEUROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEUROD2 were set to 33438828; 30323019
Phenotypes for gene: NEUROD2 were set to Epileptic encephalopathy, early infantile, 72, MIM# 618374
Review for gene: NEUROD2 was set to GREEN
Added comment: Four unrelated individuals altogether with de novo variants in this gene, two presenting predominantly with seizures, and two with ID.
Sources: Literature
Mendeliome v0.7289 MRE11 Zornitza Stark Marked gene: MRE11 as ready
Mendeliome v0.7289 MRE11 Zornitza Stark Gene: mre11 has been classified as Green List (High Evidence).
Mendeliome v0.7289 MRE11 Zornitza Stark Phenotypes for gene: MRE11 were changed from to Ataxia-telangiectasia-like disorder 1, MIM# 604391; MONDO:0024557
Mendeliome v0.7288 MRE11 Zornitza Stark Publications for gene: MRE11 were set to
Mendeliome v0.7287 MRE11 Zornitza Stark Mode of inheritance for gene: MRE11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7286 MRE11 Zornitza Stark reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: None; Publications: 10612394, 11371508, 15269180, 22863007, 24332946, 21227757; Phenotypes: Ataxia-telangiectasia-like disorder 1, MIM# 604391, MONDO:0024557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.133 MRE11 Zornitza Stark Marked gene: MRE11 as ready
Chromosome Breakage Disorders v0.133 MRE11 Zornitza Stark Gene: mre11 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.133 MRE11 Zornitza Stark Phenotypes for gene: MRE11 were changed from to Ataxia-telangiectasia-like disorder 1, MIM# 604391; MONDO:0024557
Chromosome Breakage Disorders v0.132 MRE11 Zornitza Stark Publications for gene: MRE11 were set to
Chromosome Breakage Disorders v0.131 MRE11 Zornitza Stark Mode of inheritance for gene: MRE11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.130 MRE11 Zornitza Stark reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: None; Publications: 10612394, 11371508, 15269180, 22863007, 24332946, 21227757; Phenotypes: Ataxia-telangiectasia-like disorder 1, MIM# 604391, MONDO:0024557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3699 MPLKIP Zornitza Stark Marked gene: MPLKIP as ready
Intellectual disability syndromic and non-syndromic v0.3699 MPLKIP Zornitza Stark Gene: mplkip has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3699 MPLKIP Zornitza Stark Phenotypes for gene: MPLKIP were changed from to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013
Intellectual disability syndromic and non-syndromic v0.3698 MPLKIP Zornitza Stark Publications for gene: MPLKIP were set to
Intellectual disability syndromic and non-syndromic v0.3697 MPLKIP Zornitza Stark Mode of inheritance for gene: MPLKIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3696 MPLKIP Zornitza Stark reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389, 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050, MONDO:0021013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7286 MPLKIP Zornitza Stark Marked gene: MPLKIP as ready
Mendeliome v0.7286 MPLKIP Zornitza Stark Gene: mplkip has been classified as Green List (High Evidence).
Mendeliome v0.7286 MPLKIP Zornitza Stark Phenotypes for gene: MPLKIP were changed from to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013
Mendeliome v0.7285 MPLKIP Zornitza Stark Publications for gene: MPLKIP were set to
Mendeliome v0.7284 MPLKIP Zornitza Stark Mode of inheritance for gene: MPLKIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7283 MPLKIP Zornitza Stark reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389, 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050, MONDO:0021013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.130 MPLKIP Zornitza Stark Marked gene: MPLKIP as ready
Chromosome Breakage Disorders v0.130 MPLKIP Zornitza Stark Gene: mplkip has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.130 MPLKIP Zornitza Stark Phenotypes for gene: MPLKIP were changed from to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013
Chromosome Breakage Disorders v0.129 MPLKIP Zornitza Stark Publications for gene: MPLKIP were set to
Chromosome Breakage Disorders v0.128 MPLKIP Zornitza Stark Mode of inheritance for gene: MPLKIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.127 MPLKIP Zornitza Stark reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389, 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050, MONDO:0021013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7283 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Mendeliome v0.7283 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Mendeliome v0.7283 PIK3CD Zornitza Stark Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513
Mendeliome v0.7282 PIK3CD Zornitza Stark Publications for gene: PIK3CD were set to
Mendeliome v0.7281 PIK3CD Zornitza Stark Mode of inheritance for gene: PIK3CD was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7280 PIK3CD Zornitza Stark reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30040974, 30336224, 29180244, 16984281, 24136356, 24165795, 24610295; Phenotypes: Immunodeficiency 14B, autosomal recessive, MIM# 619281, Immunodeficiency 14A, autosomal dominant, MIM# 615513; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7280 GTF2H5 Zornitza Stark Marked gene: GTF2H5 as ready
Mendeliome v0.7280 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence).
Mendeliome v0.7280 GTF2H5 Zornitza Stark Phenotypes for gene: GTF2H5 were changed from to Trichothiodystrophy 3, photosensitive, MIM# 616395; MONDO:0014619
Mendeliome v0.7279 GTF2H5 Zornitza Stark Publications for gene: GTF2H5 were set to
Mendeliome v0.7278 GTF2H5 Zornitza Stark Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7277 GTF2H5 Zornitza Stark reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 15220921, 30359777, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395, MONDO:0014619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.126 GTF2H5 Zornitza Stark Marked gene: GTF2H5 as ready
Chromosome Breakage Disorders v0.126 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.126 GTF2H5 Zornitza Stark Phenotypes for gene: GTF2H5 were changed from to Trichothiodystrophy 3, photosensitive, MIM# 616395; MONDO:0014619
Chromosome Breakage Disorders v0.125 GTF2H5 Zornitza Stark Publications for gene: GTF2H5 were set to
Chromosome Breakage Disorders v0.124 GTF2H5 Zornitza Stark Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.123 GTF2H5 Zornitza Stark reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 15220921, 30359777, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395, MONDO:0014619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hair disorders v0.45 GTF2E2 Zornitza Stark Marked gene: GTF2E2 as ready
Hair disorders v0.45 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.45 GTF2E2 Zornitza Stark Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive, 616943 to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841
Hair disorders v0.44 GTF2E2 Zornitza Stark Classified gene: GTF2E2 as Amber List (moderate evidence)
Hair disorders v0.44 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.43 GTF2E2 Zornitza Stark reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28973399; Phenotypes: Trichothiodystrophy 6, nonphotosensitive, MIM# 616943, MONDO:0014841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3696 GTF2E2 Zornitza Stark Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive; OMIM #616943 to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841
Intellectual disability syndromic and non-syndromic v0.3695 GTF2E2 Zornitza Stark Classified gene: GTF2E2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3695 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3694 GTF2E2 Zornitza Stark Deleted their comment
Mendeliome v0.7277 GTF2E2 Zornitza Stark Marked gene: GTF2E2 as ready
Mendeliome v0.7277 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7277 GTF2E2 Zornitza Stark Phenotypes for gene: GTF2E2 were changed from to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841
Mendeliome v0.7276 GTF2E2 Zornitza Stark Publications for gene: GTF2E2 were set to
Mendeliome v0.7275 GTF2E2 Zornitza Stark Mode of inheritance for gene: GTF2E2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7274 GTF2E2 Zornitza Stark Classified gene: GTF2E2 as Amber List (moderate evidence)
Mendeliome v0.7274 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7273 GTF2E2 Zornitza Stark reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26996949; Phenotypes: Trichothiodystrophy 6, nonphotosensitive, MIM# 616943, MONDO:0014841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.123 GTF2E2 Zornitza Stark Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive, MIM# 616943 to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841
Chromosome Breakage Disorders v0.122 GTF2E2 Zornitza Stark Marked gene: GTF2E2 as ready
Chromosome Breakage Disorders v0.122 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.122 GTF2E2 Zornitza Stark Phenotypes for gene: GTF2E2 were changed from to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943
Chromosome Breakage Disorders v0.121 GTF2E2 Zornitza Stark Publications for gene: GTF2E2 were set to
Chromosome Breakage Disorders v0.120 GTF2E2 Zornitza Stark Mode of inheritance for gene: GTF2E2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.119 GTF2E2 Zornitza Stark Classified gene: GTF2E2 as Amber List (moderate evidence)
Chromosome Breakage Disorders v0.119 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
Chromosome Breakage Disorders v0.118 GTF2E2 Zornitza Stark reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26996949; Phenotypes: Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.118 TYR Zornitza Stark Marked gene: TYR as ready
Chromosome Breakage Disorders v0.118 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.118 TYR Zornitza Stark Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100
Chromosome Breakage Disorders v0.117 TYR Zornitza Stark Mode of inheritance for gene: TYR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.116 TYR Zornitza Stark Classified gene: TYR as Red List (low evidence)
Chromosome Breakage Disorders v0.116 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v0.115 TYR Zornitza Stark edited their review of gene: TYR: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.115 TYR Zornitza Stark reviewed gene: TYR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, MIM# 203100; Mode of inheritance: None
Chromosome Breakage Disorders v0.115 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Chromosome Breakage Disorders v0.115 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.115 SLX4 Zornitza Stark Publications for gene: SLX4 were set to
Chromosome Breakage Disorders v0.114 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anemia, complementation group P, MIM# 613951; MONDO:0013499
Chromosome Breakage Disorders v0.113 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.112 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Chromosome Breakage Disorders v0.112 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.112 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390
Chromosome Breakage Disorders v0.111 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Chromosome Breakage Disorders v0.110 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.215 FANCL Zornitza Stark Marked gene: FANCL as ready
Bone Marrow Failure v0.215 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Bone Marrow Failure v0.215 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
Bone Marrow Failure v0.214 FANCL Zornitza Stark Publications for gene: FANCL were set to
Bone Marrow Failure v0.213 FANCL Zornitza Stark Mode of inheritance for gene: FANCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.212 FANCL Zornitza Stark reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19405097, 25754594, 33394227, 33224012; Phenotypes: Fanconi anemia, complementation group L, MIM# 614083, MONDO:0013566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.109 FANCL Zornitza Stark Marked gene: FANCL as ready
Chromosome Breakage Disorders v0.109 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.109 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
Mendeliome v0.7273 FANCL Zornitza Stark Marked gene: FANCL as ready
Mendeliome v0.7273 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Mendeliome v0.7273 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
Mendeliome v0.7272 FANCL Zornitza Stark Publications for gene: FANCL were set to
Mendeliome v0.7271 FANCL Zornitza Stark Mode of inheritance for gene: FANCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.108 FANCL Zornitza Stark Publications for gene: FANCL were set to
Mendeliome v0.7270 FANCL Zornitza Stark reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19405097, 25754594, 33394227, 33224012; Phenotypes: Fanconi anemia, complementation group L, MIM# 614083, MONDO:0013566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.107 FANCL Zornitza Stark Mode of inheritance for gene: FANCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.106 FANCL Zornitza Stark reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19405097, 25754594, 33394227, 33224012; Phenotypes: Fanconi anemia, complementation group L, MIM# 614083, MONDO:0013566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.212 FANCI Zornitza Stark Marked gene: FANCI as ready
Bone Marrow Failure v0.212 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Bone Marrow Failure v0.212 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
Bone Marrow Failure v0.211 FANCI Zornitza Stark Publications for gene: FANCI were set to
Bone Marrow Failure v0.210 FANCI Zornitza Stark Mode of inheritance for gene: FANCI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.209 FANCI Zornitza Stark reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: 17452773; Phenotypes: Fanconi anemia, complementation group I, MIM# 609053, MONDO:0012186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7270 FANCI Zornitza Stark Marked gene: FANCI as ready
Mendeliome v0.7270 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Mendeliome v0.7270 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
Mendeliome v0.7269 FANCI Zornitza Stark Publications for gene: FANCI were set to
Mendeliome v0.7268 FANCI Zornitza Stark Mode of inheritance for gene: FANCI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7267 FANCI Zornitza Stark reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: 17452773; Phenotypes: Fanconi anemia, complementation group I, MIM# 609053, MONDO:0012186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.106 FANCI Zornitza Stark Marked gene: FANCI as ready
Chromosome Breakage Disorders v0.106 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.106 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
Chromosome Breakage Disorders v0.105 FANCI Zornitza Stark Publications for gene: FANCI were set to
Chromosome Breakage Disorders v0.104 FANCI Zornitza Stark Mode of inheritance for gene: FANCI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.103 FANCI Zornitza Stark reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: 17452773; Phenotypes: Fanconi anemia, complementation group I, MIM# 609053, MONDO:0012186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7267 FANCG Zornitza Stark Marked gene: FANCG as ready
Mendeliome v0.7267 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Mendeliome v0.7267 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Mendeliome v0.7266 FANCG Zornitza Stark Publications for gene: FANCG were set to
Mendeliome v0.7265 FANCG Zornitza Stark Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7264 FANCG Zornitza Stark reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9806548, 12552564; Phenotypes: Fanconi anaemia, complementation group G, MIM# 614082, MONDO:0013565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.103 FANCG Zornitza Stark Marked gene: FANCG as ready
Chromosome Breakage Disorders v0.103 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.103 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Chromosome Breakage Disorders v0.102 FANCG Zornitza Stark Publications for gene: FANCG were set to
Chromosome Breakage Disorders v0.101 FANCG Zornitza Stark Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.100 FANCG Zornitza Stark reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9806548, 12552564; Phenotypes: Fanconi anaemia, complementation group G, MIM# 614082, MONDO:0013565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7264 FANCF Zornitza Stark Marked gene: FANCF as ready
Mendeliome v0.7264 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Mendeliome v0.7264 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Mendeliome v0.7263 FANCF Zornitza Stark Publications for gene: FANCF were set to
Mendeliome v0.7262 FANCF Zornitza Stark Mode of inheritance for gene: FANCF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7261 FANCF Zornitza Stark reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615118, 31288759; Phenotypes: Fanconi anaemia, complementation group F 603467, MONDO:0011325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.100 FANCF Zornitza Stark Marked gene: FANCF as ready
Chromosome Breakage Disorders v0.100 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.100 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Chromosome Breakage Disorders v0.99 FANCF Zornitza Stark Publications for gene: FANCF were set to
Chromosome Breakage Disorders v0.98 FANCF Zornitza Stark Mode of inheritance for gene: FANCF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.97 FANCF Zornitza Stark reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615118, 31288759; Phenotypes: Fanconi anaemia, complementation group F 603467, MONDO:0011325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.209 FANCE Zornitza Stark Marked gene: FANCE as ready
Bone Marrow Failure v0.209 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Bone Marrow Failure v0.209 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
Bone Marrow Failure v0.208 FANCE Zornitza Stark Publications for gene: FANCE were set to
Bone Marrow Failure v0.207 FANCE Zornitza Stark Mode of inheritance for gene: FANCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.206 FANCE Zornitza Stark reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E, MIM# 600901, MONDO:0010953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7261 FANCE Zornitza Stark Marked gene: FANCE as ready
Mendeliome v0.7261 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Mendeliome v0.7261 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
Mendeliome v0.7260 FANCE Zornitza Stark Publications for gene: FANCE were set to
Mendeliome v0.7259 FANCE Zornitza Stark Mode of inheritance for gene: FANCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7258 FANCE Zornitza Stark reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E, MIM# 600901, MONDO:0010953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.97 FANCE Zornitza Stark Marked gene: FANCE as ready
Chromosome Breakage Disorders v0.97 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.97 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
Chromosome Breakage Disorders v0.96 FANCE Zornitza Stark Publications for gene: FANCE were set to
Chromosome Breakage Disorders v0.95 FANCE Zornitza Stark Mode of inheritance for gene: FANCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.94 FANCE Zornitza Stark reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E, MIM# 600901, MONDO:0010953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.206 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Bone Marrow Failure v0.206 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.206 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
Bone Marrow Failure v0.205 FANCD2 Zornitza Stark Publications for gene: FANCD2 were set to
Bone Marrow Failure v0.204 FANCD2 Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.203 FANCD2 Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17436244; Phenotypes: Fanconi anaemia, complementation group D2, MIM# 227646, MONDO:0009214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.94 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Chromosome Breakage Disorders v0.94 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.94 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anaemia, complementation group D2, MIM# 227646 to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
Chromosome Breakage Disorders v0.93 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anaemia, complementation group D2, MIM# 227646
Chromosome Breakage Disorders v0.92 FANCD2 Zornitza Stark Publications for gene: FANCD2 were set to
Chromosome Breakage Disorders v0.91 FANCD2 Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.90 FANCD2 Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17436244; Phenotypes: Fanconi anaemia, complementation group D2, MIM# 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7258 MDM2 Zornitza Stark Marked gene: MDM2 as ready
Mendeliome v0.7258 MDM2 Zornitza Stark Gene: mdm2 has been classified as Red List (Low Evidence).
Mendeliome v0.7258 MDM2 Zornitza Stark Phenotypes for gene: MDM2 were changed from to Lessel-Kubisch syndrome, MIM# 618681
Mendeliome v0.7257 MDM2 Zornitza Stark Publications for gene: MDM2 were set to
Mendeliome v0.7256 MDM2 Zornitza Stark Mode of inheritance for gene: MDM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7255 MDM2 Zornitza Stark Classified gene: MDM2 as Red List (low evidence)
Mendeliome v0.7255 MDM2 Zornitza Stark Gene: mdm2 has been classified as Red List (Low Evidence).
Mendeliome v0.7254 MDM2 Chern Lim reviewed gene: MDM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28846075; Phenotypes: ?Lessel-Kubisch syndrome (MIM#618681); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Movement Disorders Superpanel v0.0 Bryony Thompson Added Panel Tremors_Superpanel
Set child panels to: Dystonia - complex; Early-onset Parkinson disease; Paroxysmal Dyskinesia; Dystonia - isolated/combined
Set panel types to: Royal Melbourne Hospital
Genetic Epilepsy v0.1062 CAMK2A Zornitza Stark Marked gene: CAMK2A as ready
Genetic Epilepsy v0.1062 CAMK2A Zornitza Stark Gene: camk2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1062 CAMK2A Zornitza Stark Mode of pathogenicity for gene: CAMK2A was changed from None to Other
Genetic Epilepsy v0.1061 CAMK2A Zornitza Stark Classified gene: CAMK2A as Green List (high evidence)
Genetic Epilepsy v0.1061 CAMK2A Zornitza Stark Gene: camk2a has been classified as Green List (High Evidence).
Mitochondrial disease v0.603 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021) to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721
Mendeliome v0.7254 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021) to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721
Mendeliome v0.7253 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021) to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021)
Mitochondrial disease v0.602 NDUFB11 Zornitza Stark Marked gene: NDUFB11 as ready
Mitochondrial disease v0.602 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Mitochondrial disease v0.602 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021)
Mitochondrial disease v0.601 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to
Mitochondrial disease v0.600 NDUFB11 Zornitza Stark Mode of inheritance for gene: NDUFB11 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)
Mitochondrial disease v0.599 NDUFB11 Zornitza Stark reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050600, 27488349, 30423443, 27488349; Phenotypes: Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952), Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); 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 v0.7252 NDUFB11 Zornitza Stark Marked gene: NDUFB11 as ready
Mendeliome v0.7252 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Mendeliome v0.7252 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021)
Mendeliome v0.7251 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to
Mendeliome v0.7250 NDUFB11 Zornitza Stark Mode of inheritance for gene: NDUFB11 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 v0.1060 CAMK2A Elena Savva edited their review of gene: CAMK2A: Added comment: Chia (2018): 2 hom sibs with a missense, carrier parents/sibs normal. Patients had ID and additional features of hypotonia, myoclonic seizures. Supported by functional work showing loss of function
Isolated example of AR inheritance, all other reports are AD

Rudolf (2020): 1 de novo missense patient with focal epilepsy of childhood, autism and ID

Akita (2018): seizures reported in 3/5 patients with de novo variants. GOF through loss of autoinhibition-> constitutive activation

Sources: Literature; Changed mode of pathogenicity: Other
Genetic Epilepsy v0.1060 CAMK2A Elena Savva gene: CAMK2A was added
gene: CAMK2A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CAMK2A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CAMK2A were set to PMID: 32600977; 29784083; 29560374
Phenotypes for gene: CAMK2A were set to ?Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798
Review for gene: CAMK2A was set to GREEN
Added comment: Chia (2018): 2 hom sibs with a missense, supported by functional work, carrier parents/sibs normal. Patients had ID and additional features of hypotonia, myoclonic seizures.
Isolated example of AR inheritance, all other reports are AD

Rudolf (2020): 1 de novo missense patient with focal epilepsy of childhood, autism and ID

Akita (2018): seizures reported in 3/5 patients with de novo variants
Sources: Literature
Mendeliome v0.7249 NDUFB11 Kristin Rigbye changed review comment from: Variable syndromic features have been observed in affected individuals, however anaemia and cardiomyopathy appear to be consistent features in males and females, respectively (PMID: 28050600, PMID: 30423443, PMID: 27488349).

Affected females have previously been reported with inherited pathogenic variants from their unaffected mothers. It has been suggested that this may be due to patterns of somatic X-chromosome inactivation, mosaicism or additional genetic or external factors (PMID: 28050600).

Affected females have been reported with null alleles, whereas affected males have only been identified with missense variants or a recurrent single residue in-frame deletion, suggesting that some residual enzyme activity is required for males to be viable, whereas complete loss of function variants may be lethal when hemizygous (PMID: 30423443).
Note: female carriers of missense variants have not been reported as clinically affected.

Western blots from cells of male patients with the recurrent F93del variant showed reduced protein levels, and recombinant cells demonstrated a proliferation defect, consistent with the anaemia phenotype (PMID: 27488349).; to: Variable syndromic features have been observed in affected individuals, however anaemia and cardiomyopathy appear to be consistent features in males and females, respectively (PMID: 28050600, PMID: 30423443, PMID: 27488349).

It has been suggested that heterozygous females do not display the severe phenotype associated with mitochondrial complex 1 deficiency due to highly skewed XCI favouring expression of the wild type allele, whereas these null variants result in a severe lethal disorder in hemizygous males (PMID: 25772934).

Affected females have previously been reported with inherited pathogenic variants from their unaffected mothers. It has been suggested that this may be due to patterns of somatic X-chromosome inactivation, mosaicism or additional genetic or external factors (PMID: 28050600).

Affected females have been reported with null alleles, whereas affected males have only been identified with missense variants or a recurrent single residue in-frame deletion, suggesting that some residual enzyme activity is required for males to be viable, whereas complete loss of function variants may be lethal when hemizygous (PMID: 30423443).
Note: female carriers of missense variants have not been reported as clinically affected.

Western blots from cells of male patients with the recurrent F93del variant showed reduced protein levels, and recombinant cells demonstrated a proliferation defect, consistent with the anaemia phenotype (PMID: 27488349).
Mendeliome v0.7249 NDUFB11 Kristin Rigbye reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050600, 27488349, 30423443, 27488349; Phenotypes: Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952), Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Bone Marrow Failure v0.203 FANCC Zornitza Stark Marked gene: FANCC as ready
Bone Marrow Failure v0.203 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Bone Marrow Failure v0.203 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
Bone Marrow Failure v0.202 FANCC Zornitza Stark Publications for gene: FANCC were set to
Bone Marrow Failure v0.201 FANCC Zornitza Stark Mode of inheritance for gene: FANCC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.200 FANCC Zornitza Stark reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645, MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7249 FANCC Zornitza Stark Marked gene: FANCC as ready
Mendeliome v0.7249 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Mendeliome v0.7249 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
Mendeliome v0.7248 FANCC Zornitza Stark Publications for gene: FANCC were set to
Mendeliome v0.7247 FANCC Zornitza Stark Mode of inheritance for gene: FANCC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7246 FANCC Zornitza Stark reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645, MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.90 FANCC Zornitza Stark Marked gene: FANCC as ready
Chromosome Breakage Disorders v0.90 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.90 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
Chromosome Breakage Disorders v0.89 FANCC Zornitza Stark Publications for gene: FANCC were set to
Bleeding and Platelet Disorders v0.220 MFAP5 Zornitza Stark Phenotypes for gene: MFAP5 were changed from Aortic aneurysm, familial thoracic MIM# 616166 to Aortic aneurysm, familial thoracic MIM# 616166; MONDO:0014514
Bleeding and Platelet Disorders v0.219 MFAP5 Zornitza Stark edited their review of gene: MFAP5: Changed phenotypes: Aortic aneurysm, familial thoracic MIM# 616166, MONDO:0014514
Aortopathy_Connective Tissue Disorders v1.24 MFAP5 Zornitza Stark Phenotypes for gene: MFAP5 were changed from Aortic aneurysm, familial thoracic MIM# 616166 to Aortic aneurysm, familial thoracic MIM# 616166; MONDO:0014514
Mendeliome v0.7246 MFAP5 Zornitza Stark Phenotypes for gene: MFAP5 were changed from to Aortic aneurysm, familial thoracic MIM# 616166; MONDO:0014514
Mendeliome v0.7245 MFAP5 Zornitza Stark Publications for gene: MFAP5 were set to
Mendeliome v0.7244 MFAP5 Zornitza Stark Mode of inheritance for gene: MFAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7243 MFAP5 Zornitza Stark Classified gene: MFAP5 as Amber List (moderate evidence)
Mendeliome v0.7243 MFAP5 Zornitza Stark Gene: mfap5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7242 MFAP5 Zornitza Stark reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434006, 30763214, 33807627, 33514025, 29524629; Phenotypes: Aortic aneurysm, familial thoracic MIM# 616166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.23 MFAP5 Zornitza Stark Publications for gene: MFAP5 were set to 25434006; 30763214
Chromosome Breakage Disorders v0.88 FANCC Zornitza Stark Mode of inheritance for gene: FANCC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.87 FANCC Zornitza Stark reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645, MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aortopathy_Connective Tissue Disorders v1.22 MFAP5 Michelle Torres reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 33807627, 33514025, 29524629; Phenotypes: Aortic aneurysm, familial thoracic 9 (MIM#616166); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Radial Ray Abnormalities v0.84 FANCB Zornitza Stark Marked gene: FANCB as ready
Radial Ray Abnormalities v0.84 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.84 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anaemia, complementation group B, MIM# 300514; MONDO:0010351
Radial Ray Abnormalities v0.83 FANCB Zornitza Stark Publications for gene: FANCB were set to
Radial Ray Abnormalities v0.82 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Radial Ray Abnormalities v0.81 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514, MONDO:0010351; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7242 FANCB Zornitza Stark Marked gene: FANCB as ready
Mendeliome v0.7242 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Mendeliome v0.7242 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anaemia, complementation group B, MIM# 300514; MONDO:0010351
Mendeliome v0.7241 FANCB Zornitza Stark Publications for gene: FANCB were set to
Mendeliome v0.7240 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7239 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514, MONDO:0010351; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Chromosome Breakage Disorders v0.87 FANCB Zornitza Stark Marked gene: FANCB as ready
Chromosome Breakage Disorders v0.87 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.87 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from Fanconi anaemia, complementation group B, MIM# 300514 to Fanconi anaemia, complementation group B, MIM# 300514; MONDO:0010351
Chromosome Breakage Disorders v0.86 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from Fanconi anemia, complementation group B, MIM# 300514 to Fanconi anaemia, complementation group B, MIM# 300514
Chromosome Breakage Disorders v0.85 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B, MIM# 300514
Chromosome Breakage Disorders v0.84 FANCB Zornitza Stark Publications for gene: FANCB were set to
Chromosome Breakage Disorders v0.83 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Chromosome Breakage Disorders v0.82 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anemia, complementation group B, MIM# 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Incidentalome v0.62 UQCRC1 Zornitza Stark Phenotypes for gene: UQCRC1 were changed from Parkinson's disease to Parkinsonism with polyneuropathy, MIM# 619279
Incidentalome v0.61 UQCRC1 Zornitza Stark edited their review of gene: UQCRC1: Changed phenotypes: Parkinsonism with polyneuropathy, MIM# 619279
Early-onset Parkinson disease v0.102 UQCRC1 Zornitza Stark Phenotypes for gene: UQCRC1 were changed from Parkinson's disease to Parkinsonism with polyneuropathy, MIM# 619279
Early-onset Parkinson disease v0.101 UQCRC1 Zornitza Stark edited their review of gene: UQCRC1: Changed phenotypes: Parkinsonism with polyneuropathy, MIM# 619279
Mendeliome v0.7239 SMG8 Zornitza Stark Phenotypes for gene: SMG8 were changed from Intellectual disability to Alzahrani-Kuwahara syndrome, MIM# 619268; Intellectual disability
Mendeliome v0.7238 SMG8 Zornitza Stark reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzahrani-Kuwahara syndrome, MIM# 619268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3694 SMG8 Zornitza Stark Phenotypes for gene: SMG8 were changed from Intellectual disability to Alzahrani-Kuwahara syndrome, MIM# 619268; Intellectual disability
Radial Ray Abnormalities v0.81 FANCA Zornitza Stark Marked gene: FANCA as ready
Radial Ray Abnormalities v0.81 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.81 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Radial Ray Abnormalities v0.80 FANCA Zornitza Stark Publications for gene: FANCA were set to
Radial Ray Abnormalities v0.79 FANCA Zornitza Stark Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v0.78 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.99 FANCA Zornitza Stark Marked gene: FANCA as ready
Cancer Predisposition_Paediatric v0.99 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.99 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Cancer Predisposition_Paediatric v0.98 FANCA Zornitza Stark Publications for gene: FANCA were set to
Cancer Predisposition_Paediatric v0.97 FANCA Zornitza Stark Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.96 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.200 FANCA Zornitza Stark Marked gene: FANCA as ready
Bone Marrow Failure v0.200 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Bone Marrow Failure v0.200 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Bone Marrow Failure v0.199 FANCA Zornitza Stark Publications for gene: FANCA were set to
Bone Marrow Failure v0.198 FANCA Zornitza Stark Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.197 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.82 FANCA Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.
Mendeliome v0.7238 FANCA Zornitza Stark Marked gene: FANCA as ready
Mendeliome v0.7238 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Mendeliome v0.7238 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Mendeliome v0.7237 FANCA Zornitza Stark Publications for gene: FANCA were set to
Mendeliome v0.7236 FANCA Zornitza Stark Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7235 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.82 FANCA Zornitza Stark Marked gene: FANCA as ready
Chromosome Breakage Disorders v0.82 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.82 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Chromosome Breakage Disorders v0.81 FANCA Zornitza Stark Publications for gene: FANCA were set to
Chromosome Breakage Disorders v0.80 FANCA Zornitza Stark Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.79 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7235 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Mendeliome v0.7235 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Mendeliome v0.7235 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569; UV-sensitive syndrome 2, MIM# 614621; MONDO:0013829
Mendeliome v0.7234 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to
Mendeliome v0.7233 ERCC8 Zornitza Stark Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.79 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569; UV-sensitive syndrome 2, MIM# 614621; MONDO:0013829
Mendeliome v0.7232 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 7664335, 19894250; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569, UV-sensitive syndrome 2, MIM# 614621, MONDO:0013829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.78 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to
Chromosome Breakage Disorders v0.77 ERCC8 Zornitza Stark Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.76 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 7664335, 19894250; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569, UV-sensitive syndrome 2, MIM# 614621, MONDO:0013829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.219 GP1BA Zornitza Stark Marked gene: GP1BA as ready
Bleeding and Platelet Disorders v0.219 GP1BA Zornitza Stark Gene: gp1ba has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.219 GP1BA Zornitza Stark Phenotypes for gene: GP1BA were changed from to Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); MONDO:0008332; Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); MONDO:0007930
Bleeding and Platelet Disorders v0.218 GP1BA Zornitza Stark Publications for gene: GP1BA were set to
Bleeding and Platelet Disorders v0.217 GP1BA Zornitza Stark Mode of inheritance for gene: GP1BA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.216 GP1BA Zornitza Stark reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24934643; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS), von Willebrand disease, platelet-type, (MIM#177820), AD (VWD), MONDO:0008332, Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS), MONDO:0007930; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7232 GP1BA Zornitza Stark Publications for gene: GP1BA were set to
Mendeliome v0.7231 GP1BA Zornitza Stark Marked gene: GP1BA as ready
Mendeliome v0.7231 GP1BA Zornitza Stark Gene: gp1ba has been classified as Green List (High Evidence).
Mendeliome v0.7231 GP1BA Zornitza Stark Phenotypes for gene: GP1BA were changed from to Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); MONDO:0008332; Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); MONDO:0007930
Mendeliome v0.7230 GP1BA Zornitza Stark Mode of inheritance for gene: GP1BA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7229 GP1BA Zornitza Stark reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS), von Willebrand disease, platelet-type, (MIM#177820), AD (VWD), MONDO:0008332, Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS), MONDO:0007930; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7229 GP1BA Ain Roesley reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24934643; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS), von Willebrand disease, platelet-type, (MIM#177820), AD (VWD), Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.76 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Chromosome Breakage Disorders v0.75 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Chromosome Breakage Disorders v0.75 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.75 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from to Cerebrooculofacioskeletal syndrome 1, MIM# 214150; MONDO:0008955; Cockayne syndrome, type B, MIM# 133540; MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800; MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630; MONDO:0010909
Chromosome Breakage Disorders v0.74 ERCC6 Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.73 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150, MONDO:0008955, Cockayne syndrome, type B, MIM# 133540, MONDO:0019570, De Sanctis-Cacchione syndrome, MIM# 278800, MONDO:0010217, UV-sensitive syndrome 1, MIM# 600630, MONDO:0010909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.73 Zornitza Stark removed gene:DHCR7 from the panel
Intellectual disability syndromic and non-syndromic v0.3693 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Intellectual disability syndromic and non-syndromic v0.3693 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3693 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Intellectual disability syndromic and non-syndromic v0.3692 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to
Intellectual disability syndromic and non-syndromic v0.3691 ERCC5 Zornitza Stark Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3690 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7229 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7229 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to 30838033; 24700531
Mendeliome v0.7228 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, MIM# 616570; Xeroderma pigmentosum, group G, MIM# 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 to Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216
Chromosome Breakage Disorders v0.72 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Chromosome Breakage Disorders v0.72 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.72 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Chromosome Breakage Disorders v0.71 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to
Chromosome Breakage Disorders v0.70 ERCC5 Zornitza Stark Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.69 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7227 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Mendeliome v0.7227 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Mendeliome v0.7227 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590
Mendeliome v0.7226 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Mendeliome v0.7225 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7224 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623386, 8797827, 23623389, 17183314, 29105242; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, MONDO:0010215, XFE progeroid syndrome, MIM# 610965, MONDO:0012590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark commented on gene: ERCC4: Excision repair defect resulting in a range of phenotypes.
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.69 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590
Chromosome Breakage Disorders v0.68 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Chromosome Breakage Disorders v0.67 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, MONDO:0010215, XFE progeroid syndrome, MIM# 610965, MONDO:0012590
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, XFE progeroid syndrome, MIM# 610965, MONDO:0012590
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed publications: 23623386, 8797827, 23623389, 17183314, 29105242; Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, XFE progeroid syndrome, MIM# 610965
Chromosome Breakage Disorders v0.66 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108
Mendeliome v0.7224 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Mendeliome v0.7224 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Green List (High Evidence).
Mendeliome v0.7224 ERCC3 Zornitza Stark Phenotypes for gene: ERCC3 were changed from to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651
Mendeliome v0.7223 ERCC3 Zornitza Stark Publications for gene: ERCC3 were set to
Mendeliome v0.7222 ERCC3 Zornitza Stark Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7221 ERCC3 Zornitza Stark reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Trichothiodystrophy 2, photosensitive, MIM# 616390, Xeroderma pigmentosum, group B 61, MIM#0651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.64 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Chromosome Breakage Disorders v0.64 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.64 ERCC3 Zornitza Stark Phenotypes for gene: ERCC3 were changed from to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651
Chromosome Breakage Disorders v0.63 ERCC3 Zornitza Stark Publications for gene: ERCC3 were set to
Chromosome Breakage Disorders v0.62 ERCC3 Zornitza Stark Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.61 ERCC3 Zornitza Stark reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Trichothiodystrophy 2, photosensitive, MIM# 616390, Xeroderma pigmentosum, group B 61, MIM#0651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7221 DAAM2 Zornitza Stark Phenotypes for gene: DAAM2 were changed from steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS)
Mendeliome v0.7220 DAAM2 Zornitza Stark edited their review of gene: DAAM2: Changed phenotypes: Nephrotic syndrome, type 24, MIM# 619263, Steroid-resistant nephrotic syndrome (SRNS)
Proteinuria v0.160 DAAM2 Zornitza Stark Phenotypes for gene: DAAM2 were changed from steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS)
Proteinuria v0.159 DAAM2 Zornitza Stark reviewed gene: DAAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 24, MIM# 619263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7220 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011; Cardiomyopathy, dilated, 1GG, MIM# 613642; Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259; Paragangliomas 5 , MIM#614165
Mendeliome v0.7219 SDHA Zornitza Stark Marked gene: SDHA as ready
Mendeliome v0.7219 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Mendeliome v0.7219 SDHA Zornitza Stark Publications for gene: SDHA were set to
Mendeliome v0.7218 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7217 SDHA Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10976639, 27683074, 7550341, 22972948, 20551992, 21752896; Phenotypes: Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011, Cardiomyopathy, dilated, 1GG, MIM# 613642, Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259, Paragangliomas 5 , MIM#614165; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7217 SLC19A1 Zornitza Stark Marked gene: SLC19A1 as ready
Mendeliome v0.7217 SLC19A1 Zornitza Stark Gene: slc19a1 has been classified as Red List (Low Evidence).
Mendeliome v0.7217 SLC19A1 Zornitza Stark gene: SLC19A1 was added
gene: SLC19A1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A1 were set to 32276275
Phenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM# 601775
Review for gene: SLC19A1 was set to RED
Added comment: Single individual reported with in-frame deletion, some functional data.
Sources: Expert list
Red cell disorders v0.5 SLC19A1 Zornitza Stark Marked gene: SLC19A1 as ready
Red cell disorders v0.5 SLC19A1 Zornitza Stark Gene: slc19a1 has been classified as Red List (Low Evidence).
Red cell disorders v0.5 SLC19A1 Zornitza Stark gene: SLC19A1 was added
gene: SLC19A1 was added to Rare anaemia_GEL. Sources: Expert list
Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A1 were set to 32276275
Phenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM# 601775
Review for gene: SLC19A1 was set to RED
Added comment: Single individual reported with in-frame deletion, some functional data.
Sources: Expert list
Mendeliome v0.7216 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Mendeliome v0.7216 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Mendeliome v0.7216 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212
Mendeliome v0.7215 ERCC2 Zornitza Stark Publications for gene: ERCC2 were set to
Mendeliome v0.7214 ERCC2 Zornitza Stark Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.61 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Chromosome Breakage Disorders v0.61 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Mendeliome v0.7213 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702, 9758621, 11443545, 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553, Trichothiodystrophy 1, photosensitive, MIM# 601675, MONDO:0011125, Xeroderma pigmentosum, group D, MIM# 278730, MONDO:0010212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.61 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; MONDO:0012553; Trichothiodystrophy 1, photosensitive, MIM# 601675; MONDO:0011125; Xeroderma pigmentosum, group D, MIM# 278730; MONDO:0010212
Chromosome Breakage Disorders v0.60 ERCC2 Zornitza Stark Publications for gene: ERCC2 were set to
Chromosome Breakage Disorders v0.59 ERCC2 Zornitza Stark Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.58 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702, 9758621, 11443545, 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, Trichothiodystrophy 1, photosensitive, MIM# 601675, Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3690 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Intellectual disability syndromic and non-syndromic v0.3690 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3690 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554
Intellectual disability syndromic and non-syndromic v0.3689 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to
Intellectual disability syndromic and non-syndromic v0.3688 ERCC1 Zornitza Stark Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3687 ERCC1 Zornitza Stark reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 32557569, 26085086, 33315086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758, MONDO:0012554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark edited their review of gene: ERCC1: Changed publications: 17273966, 23623389, 32557569, 26085086, 33315086
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.58 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554
Mendeliome v0.7213 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4, MIM# 610758 to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554
Mendeliome v0.7212 ERCC1 Zornitza Stark changed review comment from: Three unrelated families reported, variable severity reported from a Cockayne phenotype with congenital onset and early mortality, through to adolescent presentation with short stature, photosensitivity and progressive liver and renal dysfunction.; to: More than three unrelated families reported, variable severity reported from a Cockayne phenotype with congenital onset and early mortality, through to adolescent presentation with short stature, photosensitivity and progressive liver and renal dysfunction.
Mendeliome v0.7212 ERCC1 Zornitza Stark edited their review of gene: ERCC1: Changed publications: 17273966, 23623389, 32557569, 26085086, 33315086
Chromosome Breakage Disorders v0.57 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to 17273966; 23623389; 32557569; 26085086
Chromosome Breakage Disorders v0.56 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to
Chromosome Breakage Disorders v0.55 ERCC1 Zornitza Stark Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.54 ERCC1 Zornitza Stark reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 32557569, 26085086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1060 CHD3 Zornitza Stark Marked gene: CHD3 as ready
Genetic Epilepsy v0.1060 CHD3 Zornitza Stark Added comment: Comment when marking as ready: Patient identified through our service where seizures were the presenting feature.
Genetic Epilepsy v0.1060 CHD3 Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1060 CHD3 Zornitza Stark Classified gene: CHD3 as Green List (high evidence)
Genetic Epilepsy v0.1060 CHD3 Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence).
Mendeliome v0.7212 NDUFA8 Zornitza Stark Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures
Mendeliome v0.7211 NDUFA8 Zornitza Stark Publications for gene: NDUFA8 were set to 32385911
Mendeliome v0.7210 NDUFA8 Zornitza Stark Classified gene: NDUFA8 as Amber List (moderate evidence)
Mendeliome v0.7210 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7209 NDUFA8 Zornitza Stark commented on gene: NDUFA8: Second family reported with pair of affected siblings and homozygous missense variant, some functional data.
Mendeliome v0.7209 NDUFA8 Zornitza Stark edited their review of gene: NDUFA8: Changed rating: AMBER; Changed publications: 32385911, 33153867; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272, Developmental delay, microcehaly, seizures
Mitochondrial disease v0.599 NDUFA8 Zornitza Stark Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures
Mitochondrial disease v0.598 NDUFA8 Zornitza Stark Publications for gene: NDUFA8 were set to 32385911
Mitochondrial disease v0.597 NDUFA8 Zornitza Stark Classified gene: NDUFA8 as Amber List (moderate evidence)
Mitochondrial disease v0.597 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.596 NDUFA8 Zornitza Stark edited their review of gene: NDUFA8: Added comment: Second family reported with pair of affected siblings and homozygous missense variant, some functional data.; Changed rating: AMBER; Changed publications: 32385911, 33153867; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272, Developmental delay, microcehaly, seizures, lactic acidosis
Monogenic Diabetes v0.13 YIPF5 Zornitza Stark Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Monogenic Diabetes v0.12 YIPF5 Zornitza Stark edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Genetic Epilepsy v0.1059 YIPF5 Zornitza Stark Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Genetic Epilepsy v0.1058 YIPF5 Zornitza Stark edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Microcephaly v1.4 YIPF5 Zornitza Stark Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Microcephaly v1.3 YIPF5 Zornitza Stark edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Genetic Epilepsy v0.1058 CHD3 Naomi Baker gene: CHD3 was added
gene: CHD3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD3 were set to PMID: 32483341
Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome MIM#618205
Review for gene: CHD3 was set to GREEN
Added comment: A review of the phenotypic findings in two cohorts of Snijders Blok-Campeau syndrome patients, indicated that 16% (9/55) of patients had seizures.
Sources: Literature
Mendeliome v0.7209 YIPF5 Zornitza Stark Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Mendeliome v0.7208 YIPF5 Zornitza Stark edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Craniosynostosis v1.18 FAM20C Zornitza Stark Classified gene: FAM20C as Green List (high evidence)
Craniosynostosis v1.18 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Craniosynostosis v1.17 FAM20C Zornitza Stark changed review comment from: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly.
Sources: Expert list; to: Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly. Aware of unpublished cases.
Sources: Expert list
Craniosynostosis v1.17 FAM20C Zornitza Stark edited their review of gene: FAM20C: Changed rating: GREEN; Changed phenotypes: Raine syndrome, MIM# 259775
Regression v0.298 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to 21617257
Regression v0.297 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Green List (high evidence)
Regression v0.297 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Green List (High Evidence).
Regression v0.296 NDUFA12 Zornitza Stark edited their review of gene: NDUFA12: Added comment: Additional 7 individuals from 4 families reported: several had a progressive course, one specifically described as having complete regression.; Changed rating: GREEN; Changed publications: 21617257, 33715266
Callosome v0.278 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to 21617257
Callosome v0.277 NDUFA12 Zornitza Stark edited their review of gene: NDUFA12: Added comment: Additional 7 patients from 4 families reported in PMID 33715266: no corpus callosum abnormalities.; Changed publications: 21617257, 33715266
Mendeliome v0.7208 RORC Zornitza Stark Publications for gene: RORC were set to 26160376
Mendeliome v0.7207 RORC Zornitza Stark Mode of inheritance for gene: RORC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.72 MCM10 Zornitza Stark edited their review of gene: MCM10: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Marked gene: RPL10 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Classified gene: RPL10 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Added comment: Comment on list classification: Amber for MM gene list as disputed for autism and rare for ID.
Mackenzie's Mission_Reproductive Carrier Screening v0.70 RPL10 Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.69 RPL10 Sarah Righetti changed review comment from: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722.

Note that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation); to: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722.

Note that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation). The syndromal form is rare - a total of 10 males have been reported in the literature (PMID: 29066376).

Given the disputed link to autism, and rarity of the syndromal form of the condition, the gene has been excluded from the MM panel.
Mendeliome v0.7206 KCNH1 Zornitza Stark Marked gene: KCNH1 as ready
Mendeliome v0.7206 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Green List (High Evidence).
Mendeliome v0.7206 KCNH1 Zornitza Stark Phenotypes for gene: KCNH1 were changed from to Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS
Mendeliome v0.7205 KCNH1 Zornitza Stark Publications for gene: KCNH1 were set to
Mendeliome v0.7204 KCNH1 Zornitza Stark Mode of inheritance for gene: KCNH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7203 KCNH1 Zornitza Stark reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811134; Phenotypes: Temple-Baraitser syndrome, OMIM:611816, Zimmermann-Laband syndrome 1, OMIM:135500, Intellectual disability, Encephalopathy without features of TBS/ZLS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3687 KCNH1 Zornitza Stark Marked gene: KCNH1 as ready
Intellectual disability syndromic and non-syndromic v0.3687 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3687 KCNH1 Zornitza Stark Phenotypes for gene: KCNH1 were changed from to Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS
Intellectual disability syndromic and non-syndromic v0.3686 KCNH1 Zornitza Stark Publications for gene: KCNH1 were set to
Intellectual disability syndromic and non-syndromic v0.3685 KCNH1 Zornitza Stark Mode of inheritance for gene: KCNH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7203 GREB1L Zornitza Stark Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, OMIM# 617805 to Renal hypodysplasia/aplasia 3, OMIM# 617805; Deafness, autosomal dominant 80, MIM# 619274
Mendeliome v0.7202 GREB1L Zornitza Stark Publications for gene: GREB1L were set to 29100091
Mendeliome v0.7201 GREB1L Zornitza Stark edited their review of gene: GREB1L: Added comment: DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves. Four unrelated families reported, no comment on a renal phenotype. Note variants in this gene are also associated with renal agenesis.; Changed publications: 29100091, 29955957, 32585897; Changed phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805, Deafness, autosomal dominant 80, MIM# 619274
Intellectual disability syndromic and non-syndromic v0.3684 KCNH1 Arina Puzriakova reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811134; Phenotypes: Temple-Baraitser syndrome, OMIM:611816, Zimmermann-Laband syndrome 1, OMIM:135500, Intellectual disability, Encephalopathy without features of TBS/ZLS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7201 PLD1 Zornitza Stark Tag founder tag was added to gene: PLD1.
Cardiomyopathy_Paediatric v0.86 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Cardiomyopathy_Paediatric v0.86 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.86 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly to Coenzyme Q10 deficiency, primary, 5, MIM# 614654; dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly
Cardiomyopathy_Paediatric v0.85 COQ9 Zornitza Stark Publications for gene: COQ9 were set to PMID: 31821167: PMID: 19375058: PMID: 29560582
Cardiomyopathy_Paediatric v0.84 COQ9 Zornitza Stark Classified gene: COQ9 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.84 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.83 COQ9 Zornitza Stark reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM# 614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.83 MIPEP Zornitza Stark Marked gene: MIPEP as ready
Cardiomyopathy_Paediatric v0.83 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.83 MIPEP Zornitza Stark Phenotypes for gene: MIPEP were changed from cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts to Combined oxidative phosphorylation deficiency 31, MIM# 617228; cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts
Cardiomyopathy_Paediatric v0.82 MIPEP Zornitza Stark Classified gene: MIPEP as Green List (high evidence)
Cardiomyopathy_Paediatric v0.82 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.81 MIPEP Zornitza Stark reviewed gene: MIPEP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 31, MIM# 617228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.81 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Cardiomyopathy_Paediatric v0.81 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.81 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI to Combined oxidative phosphorylation deficiency 5 , MIM#611719; hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI
Cardiomyopathy_Paediatric v0.80 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481
Cardiomyopathy_Paediatric v0.79 MRPS22 Zornitza Stark Classified gene: MRPS22 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.79 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.78 MRPS22 Zornitza Stark reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 5 , MIM#611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.78 MRPS14 Zornitza Stark Marked gene: MRPS14 as ready
Cardiomyopathy_Paediatric v0.78 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.78 MRPS14 Zornitza Stark Phenotypes for gene: MRPS14 were changed from hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability to Combined oxidative phosphorylation deficiency 38, MIM# 618378; hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability
Cardiomyopathy_Paediatric v0.77 MRPS14 Zornitza Stark Classified gene: MRPS14 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.77 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.76 MRPS14 Zornitza Stark reviewed gene: MRPS14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.76 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Cardiomyopathy_Paediatric v0.76 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.76 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities to Combined oxidative phosphorylation deficiency 17, MIM# 615440; cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities
Cardiomyopathy_Paediatric v0.75 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM# 615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.75 ELAC2 Zornitza Stark Classified gene: ELAC2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.75 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.74 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.74 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark edited their review of gene: UQCRFS1: Added comment: Functional evidence in addition to the two families reported, upgrade to Green.; Changed rating: GREEN
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark Marked gene: UQCRFS1 as ready
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.73 UQCRFS1 Zornitza Stark Phenotypes for gene: UQCRFS1 were changed from cardiomyopathy; thrombocytopenia; hypotonia to Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; cardiomyopathy; thrombocytopenia; hypotonia
Cardiomyopathy_Paediatric v0.72 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.72 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.71 UQCRFS1 Zornitza Stark reviewed gene: UQCRFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.71 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Cardiomyopathy_Paediatric v0.71 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.71 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros to Congenital disorder of glycosylation, type Ia, MIM# 212065; hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros
Cardiomyopathy_Paediatric v0.70 PMM2 Zornitza Stark Publications for gene: PMM2 were set to PMID: 28954837: PMID: 33388235
Cardiomyopathy_Paediatric v0.69 PMM2 Zornitza Stark Classified gene: PMM2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.69 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.68 PMM2 Zornitza Stark reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28954837, 33388235; Phenotypes: Congenital disorder of glycosylation, type Ia, MIM# 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.68 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Cardiomyopathy_Paediatric v0.68 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.68 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration to HSD10 mitochondrial disease, MIM# 300438; intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration
Cardiomyopathy_Paediatric v0.67 HSD17B10 Zornitza Stark Publications for gene: HSD17B10 were set to PMID: 22127393 (review paper): PubMed: 20077426 (source paper)
Cardiomyopathy_Paediatric v0.66 HSD17B10 Zornitza Stark Classified gene: HSD17B10 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.66 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.65 HSD17B10 Zornitza Stark reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1058 EMC10 Zornitza Stark Marked gene: EMC10 as ready
Genetic Epilepsy v0.1058 EMC10 Zornitza Stark Gene: emc10 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1058 EMC10 Zornitza Stark Classified gene: EMC10 as Green List (high evidence)
Genetic Epilepsy v0.1058 EMC10 Zornitza Stark Gene: emc10 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1057 EMC10 Zornitza Stark gene: EMC10 was added
gene: EMC10 was added to Genetic Epilepsy. Sources: Literature
founder tags were added to gene: EMC10.
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC10 were set to 32869858; 33531666
Phenotypes for gene: EMC10 were set to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264
Review for gene: EMC10 was set to GREEN
Added comment: Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders.

PMID 32869858 : One Saudi family with 2 affected individuals with mild ID, speech delay, and GDD. WES and Sanger sequencing revealed a homozygous splice acceptor site variant (c.679‐1G>A) in EMC10 . Variant segregated within the family. RT‐qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients.

PMID 33531666: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family).
Sources: Literature
Mendeliome v0.7201 EMC10 Zornitza Stark Phenotypes for gene: EMC10 were changed from Intellectual disability to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264
Mendeliome v0.7200 EMC10 Zornitza Stark Classified gene: EMC10 as Green List (high evidence)
Mendeliome v0.7200 EMC10 Zornitza Stark Gene: emc10 has been classified as Green List (High Evidence).
Mendeliome v0.7199 EMC10 Zornitza Stark Tag founder tag was added to gene: EMC10.
Intellectual disability syndromic and non-syndromic v0.3684 EMC10 Zornitza Stark Tag founder tag was added to gene: EMC10.
Mendeliome v0.7199 EMC10 Zornitza Stark edited their review of gene: EMC10: Added comment: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family).; Changed rating: GREEN; Changed publications: 32869858, 33531666; Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264
Intellectual disability syndromic and non-syndromic v0.3684 EMC10 Zornitza Stark Phenotypes for gene: EMC10 were changed from Developmental delay and intellectual disability, no OMIM# to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264
Intellectual disability syndromic and non-syndromic v0.3683 EMC10 Zornitza Stark Marked gene: EMC10 as ready
Intellectual disability syndromic and non-syndromic v0.3683 EMC10 Zornitza Stark Gene: emc10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3683 EMC10 Zornitza Stark Publications for gene: EMC10 were set to PMID: 32869858
Intellectual disability syndromic and non-syndromic v0.3682 EMC10 Zornitza Stark Classified gene: EMC10 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3682 EMC10 Zornitza Stark Gene: emc10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3681 EMC10 Zornitza Stark changed review comment from: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect.; to: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family).
Intellectual disability syndromic and non-syndromic v0.3681 EMC10 Zornitza Stark reviewed gene: EMC10: Rating: GREEN; Mode of pathogenicity: None; Publications: 33531666; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7199 ITGB3 Zornitza Stark Marked gene: ITGB3 as ready
Mendeliome v0.7199 ITGB3 Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence).
Mendeliome v0.7199 ITGB3 Zornitza Stark Phenotypes for gene: ITGB3 were changed from to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552
Mendeliome v0.7198 ITGB3 Zornitza Stark Publications for gene: ITGB3 were set to
Mendeliome v0.7197 ITGB3 Zornitza Stark Mode of inheritance for gene: ITGB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7196 ITGB3 Zornitza Stark reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18065693, 19336737, 20081061, 23253071; Phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.216 ITGB3 Zornitza Stark Marked gene: ITGB3 as ready
Bleeding and Platelet Disorders v0.216 ITGB3 Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.216 ITGB3 Zornitza Stark Phenotypes for gene: ITGB3 were changed from to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552
Bleeding and Platelet Disorders v0.215 ITGB3 Zornitza Stark Publications for gene: ITGB3 were set to
Bleeding and Platelet Disorders v0.214 ITGB3 Zornitza Stark Mode of inheritance for gene: ITGB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.213 ITGB3 Zornitza Stark reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18065693, 19336737, 20081061, 23253071; Phenotypes: Bleeding disorder, platelet-type, 24, MIM#619271, MONDO:0008552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7196 KRT8 Seb Lunke reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528; Phenotypes: CIRRHOSIS, FAMILIAL, MIM #215600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke changed review comment from: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom.; to: Comment when marking as ready: In gnomAD as p.Gly90Cys with >700hets and 5hom.
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Marked gene: KRT8 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Added comment: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom.
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Gene: krt8 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.69 KRT8 Seb Lunke Phenotypes for gene: KRT8 were changed from Cirrhosis, cryptogenic, 215600 (3) to CIRRHOSIS, FAMILIAL, MIM #215600
Mackenzie's Mission_Reproductive Carrier Screening v0.68 KRT8 Seb Lunke Publications for gene: KRT8 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.67 KRT8 Seb Lunke Mode of inheritance for gene: KRT8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mackenzie's Mission_Reproductive Carrier Screening v0.66 KRT8 Seb Lunke Classified gene: KRT8 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.66 KRT8 Seb Lunke Gene: krt8 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.65 ACSF3 Seb Lunke Marked gene: ACSF3 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.65 ACSF3 Seb Lunke Gene: acsf3 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.65 ACSF3 Seb Lunke Phenotypes for gene: ACSF3 were changed from Combined malonic and methylmalonic aciduria, 614265 (3) to Combined malonic and methylmalonic aciduria, MIM#614265
Mackenzie's Mission_Reproductive Carrier Screening v0.64 ACSF3 Seb Lunke Classified gene: ACSF3 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.64 ACSF3 Seb Lunke Gene: acsf3 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.63 RPL10 Seb Lunke Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 to Mental retardation, X-linked, syndromic, 35 (MIM#300998)
Mackenzie's Mission_Reproductive Carrier Screening v0.62 RPL10 Seb Lunke Classified gene: RPL10 as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.62 RPL10 Seb Lunke Added comment: Comment on list classification: Remaining green due to X-linked neurodevelopment condition until further clarification.
Mackenzie's Mission_Reproductive Carrier Screening v0.62 RPL10 Seb Lunke Gene: rpl10 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.61 RPL10 Seb Lunke Classified gene: RPL10 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.61 RPL10 Seb Lunke Gene: rpl10 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.60 OPN1LW Seb Lunke Phenotypes for gene: OPN1LW were changed from Blue cone monochromacy, 303700 (3) to Blue cone monochromacy, MIM#303700; Colorblindness, protan, MIM#303900
Mackenzie's Mission_Reproductive Carrier Screening v0.59 OPN1LW Seb Lunke Classified gene: OPN1LW as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.59 OPN1LW Seb Lunke Gene: opn1lw has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.58 ABCA4 Seb Lunke Phenotypes for gene: ABCA4 were changed from Cone-rod dystrophy 3, 604116 (3) to Stargardt disease 1 MIM#248200; Retinal dystrophy, early-onset severe MIM#248200; Cone-rod dystrophy 3 MIM#604116
Mackenzie's Mission_Reproductive Carrier Screening v0.57 ABCA4 Seb Lunke Classified gene: ABCA4 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.57 ABCA4 Seb Lunke Gene: abca4 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.56 ABCC6 Seb Lunke Phenotypes for gene: ABCC6 were changed from Arterial calcification, generalized, of infancy, 2, 614473 (3) to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473
Mackenzie's Mission_Reproductive Carrier Screening v0.55 ABCC6 Seb Lunke Classified gene: ABCC6 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.55 ABCC6 Seb Lunke Gene: abcc6 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3681 HDAC4 Bryony Thompson Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962
Intellectual disability syndromic and non-syndromic v0.3680 HDAC4 Bryony Thompson edited their review of gene: HDAC4: Changed publications: 33537682
Mendeliome v0.7196 HDAC4 Bryony Thompson Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962; https://doi.org/10.1016/j.xhgg.2020.100015
Mendeliome v0.7195 HDAC4 Bryony Thompson edited their review of gene: HDAC4: Changed publications: 33537682
Mendeliome v0.7195 TMEM218 Bryony Thompson Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Mendeliome v0.7194 TMEM218 Bryony Thompson edited their review of gene: TMEM218: Changed publications: 33791682, 25161209
Syndromic Retinopathy v0.164 TMEM218 Bryony Thompson Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Joubert syndrome and other neurological ciliopathies v1.3 TMEM218 Bryony Thompson Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Syndromic Retinopathy v0.163 TMEM218 Bryony Thompson edited their review of gene: TMEM218: Changed publications: 33791682, 25161209
Cardiomyopathy_Paediatric v0.65 COQ9 John Christodoulou gene: COQ9 was added
gene: COQ9 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ9 were set to PMID: 31821167: PMID: 19375058: PMID: 29560582
Phenotypes for gene: COQ9 were set to dev delay; hypothermia; seizures, cardiomyopathy; left ventricular noncompaction; truncal hypotonia; peripheral hypotonia; brain MRI abnormalities; microcephaly
Penetrance for gene: COQ9 were set to Complete
Review for gene: COQ9 was set to GREEN
Added comment: Multiple independent reports of cases with cardiomyopathy of LVNC as features

see OMIM 614654
Sources: Literature
Joubert syndrome and other neurological ciliopathies v1.2 TMEM218 Bryony Thompson edited their review of gene: TMEM218: Changed publications: 33791682, 25161209
Cardiomyopathy_Paediatric v0.65 MIPEP John Christodoulou gene: MIPEP was added
gene: MIPEP was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to PMID: 27799064
Phenotypes for gene: MIPEP were set to cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts
Penetrance for gene: MIPEP were set to Complete
Review for gene: MIPEP was set to GREEN
Added comment: 4 unrelated cases reported in one paper with functional supportive evidence

see OMIM 617228
Sources: Literature
Cardiomyopathy_Paediatric v0.65 MRPS22 John Christodoulou gene: MRPS22 was added
gene: MRPS22 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481
Phenotypes for gene: MRPS22 were set to hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI
Penetrance for gene: MRPS22 were set to Complete
Review for gene: MRPS22 was set to GREEN
Added comment: Three independent reports

the last report suggested the patient also had a Cornelia de Lange-like phenotype

see OMIM 611719
Sources: Literature
Cardiomyopathy_Paediatric v0.65 MRPS14 John Christodoulou gene: MRPS14 was added
gene: MRPS14 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to PMID: 30358850
Phenotypes for gene: MRPS14 were set to hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability
Penetrance for gene: MRPS14 were set to unknown
Review for gene: MRPS14 was set to RED
Added comment: 1 case reported in the paper above

see OMIM 618378
Sources: Literature
Cardiomyopathy_Paediatric v0.65 ELAC2 John Christodoulou gene: ELAC2 was added
gene: ELAC2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELAC2 were set to PMID: 23849775: PMID: 28441660
Phenotypes for gene: ELAC2 were set to cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities
Penetrance for gene: ELAC2 were set to Complete
Review for gene: ELAC2 was set to GREEN
Added comment: 5 cases from 3 unrelated families described in the first paper cited above

see OMIM 615440
Sources: Literature
Cardiomyopathy_Paediatric v0.65 UQCRFS1 John Christodoulou gene: UQCRFS1 was added
gene: UQCRFS1 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to PMID: 31883641
Phenotypes for gene: UQCRFS1 were set to cardiomyopathy; thrombocytopenia; hypotonia
Penetrance for gene: UQCRFS1 were set to Complete
Review for gene: UQCRFS1 was set to AMBER
Added comment: I'd label this one as amber: two unrelated cases

see OMIM 618775
Sources: Literature
Cardiomyopathy_Paediatric v0.65 PMM2 John Christodoulou gene: PMM2 was added
gene: PMM2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to PMID: 28954837: PMID: 33388235
Phenotypes for gene: PMM2 were set to hypotonia; intellectual disability; cerebellar signs; pericarditis; cardiomyopathy; cardiac malformation; chronic diarrhoea; protein-losing enteropathy; ascites; cover failure; nephrotic syndrome; hydros
Penetrance for gene: PMM2 were set to Complete
Review for gene: PMM2 was set to RED
Added comment: OMIM 212065

The two papers cited above are both review papers - the first describes a cohort of 96 patients - 9 had cardiomyopathy
Sources: Literature
Cardiomyopathy_Paediatric v0.65 HSD17B10 John Christodoulou gene: HSD17B10 was added
gene: HSD17B10 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HSD17B10 were set to PMID: 22127393 (review paper): PubMed: 20077426 (source paper)
Phenotypes for gene: HSD17B10 were set to intellectual disability; regression; seizures; cardiomyopathy (dilated or hypertrophic); choreoathetosis; optic atrophy; retinal degeneration
Penetrance for gene: HSD17B10 were set to Incomplete
Review for gene: HSD17B10 was set to GREEN
Added comment: OMIM - 300438
Sources: Literature
Arthrogryposis v0.265 UNC50 Zornitza Stark Marked gene: UNC50 as ready
Arthrogryposis v0.265 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.265 UNC50 Zornitza Stark Classified gene: UNC50 as Amber List (moderate evidence)
Arthrogryposis v0.265 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.264 UNC50 Zornitza Stark gene: UNC50 was added
gene: UNC50 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 33820833
Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
Review for gene: UNC50 was set to AMBER
Added comment: UNC50 is currently not associated with any phenotype in OMIM (last edited on 02/01/2018) or Gene2Phenotype. - PMID: 29016857 (2017) - Homozygosity mapping of disease loci combined with WES in a single male from a consanguineous family presenting with lethal AMC revealed a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4). Functional studies in C. elegans showed the variant caused loss of acetylcholine receptor expression in the muscle. - PMID: 33820833 (2021) - Single individual reported with the same homozygous c.750_751del:p.Cys251Phefs*4 variant in UNC50 as previously described. The case was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and tetra ventricular dilation were detected prenatally.

Unclear if these are two separate cases or the same case reported twice or ?founder variant.
Sources: Literature
Mendeliome v0.7194 UNC50 Zornitza Stark Marked gene: UNC50 as ready
Mendeliome v0.7194 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7194 UNC50 Zornitza Stark Classified gene: UNC50 as Amber List (moderate evidence)
Mendeliome v0.7194 UNC50 Zornitza Stark Gene: unc50 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7193 ADCY6 Zornitza Stark Publications for gene: ADCY6 were set to 24319099; 26257172; 31846058
Mendeliome v0.7192 ADCY6 Zornitza Stark changed review comment from: 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: Literature; to: - 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: Literature
Mendeliome v0.7192 ADCY6 Zornitza Stark edited their review of gene: ADCY6: Changed publications: 24319099, 26257172, 31846058, 33820833
Arthrogryposis v0.263 ADCY6 Zornitza Stark Publications for gene: ADCY6 were set to PMID: 24319099, 26257172, 31846058
Clefting disorders v0.112 PLCH1 Zornitza Stark Marked gene: PLCH1 as ready
Clefting disorders v0.112 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.112 PLCH1 Zornitza Stark Classified gene: PLCH1 as Amber List (moderate evidence)
Clefting disorders v0.112 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.111 PLCH1 Zornitza Stark gene: PLCH1 was added
gene: PLCH1 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations
Review for gene: PLCH1 was set to AMBER
Added comment: PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3680 PLCH1 Zornitza Stark Marked gene: PLCH1 as ready
Intellectual disability syndromic and non-syndromic v0.3680 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3680 PLCH1 Zornitza Stark Classified gene: PLCH1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3680 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3679 PLCH1 Zornitza Stark gene: PLCH1 was added
gene: PLCH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations
Review for gene: PLCH1 was set to AMBER
Added comment: PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Holoprosencephaly and septo-optic dysplasia v0.53 PLCH1 Zornitza Stark Classified gene: PLCH1 as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v0.53 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.52 PLCH1 Zornitza Stark gene: PLCH1 was added
gene: PLCH1 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations
Review for gene: PLCH1 was set to AMBER
Added comment: PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Mendeliome v0.7192 PLCH1 Zornitza Stark Marked gene: PLCH1 as ready
Mendeliome v0.7192 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7192 PLCH1 Zornitza Stark Classified gene: PLCH1 as Amber List (moderate evidence)
Mendeliome v0.7192 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3678 PIGC Zornitza Stark Marked gene: PIGC as ready
Intellectual disability syndromic and non-syndromic v0.3678 PIGC Zornitza Stark Gene: pigc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3678 PIGC Zornitza Stark Phenotypes for gene: PIGC were changed from to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816
Intellectual disability syndromic and non-syndromic v0.3677 PIGC Zornitza Stark Publications for gene: PIGC were set to
Intellectual disability syndromic and non-syndromic v0.3676 PIGC Zornitza Stark Mode of inheritance for gene: PIGC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.203 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.7191 UNC50 Arina Puzriakova gene: UNC50 was added
gene: UNC50 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 33820833
Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
Review for gene: UNC50 was set to AMBER
Added comment: UNC50 is currently not associated with any phenotype in OMIM (last edited on 02/01/2018) or Gene2Phenotype.

- PMID: 29016857 (2017) - Homozygosity mapping of disease loci combined with WES in a single male from a consanguineous family presenting with lethal AMC revealed a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4). Functional studies in C. elegans showed the variant caused loss of acetylcholine receptor expression in the muscle.

- PMID: 33820833 (2021) - Single individual reported with the same homozygous c.750_751del:p.Cys251Phefs*4 variant in UNC50 as previously described. The case was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and tetra ventricular dilation were detected prenatally.

-- Note: it isn't definitively clear whether these are different individuals. Both are singleton males born to consanguineous parents, with the same variant and similar phenotype. Also both infants died at 28 w.g. However, the 2021 paper (PMID:33820833) states their patient was selected from a cohort of cases without a molecular diagnosis and indicate the UNC50 gene had already previously been identified in relation to this phenotype, highlighting the earlier paper (PMID:29016857). There is also no mention of tetra ventricular dilation in the first case, so it is likely that these do represent distinct individuals. Additional cases needed to provide clarity.
Sources: Literature
Arthrogryposis v0.262 ADCY6 Arina Puzriakova reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33820833; Phenotypes: Lethal congenital contracture syndrome 8, OMIM:616287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7191 PLCH1 Arina Puzriakova gene: PLCH1 was added
gene: PLCH1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations
Review for gene: PLCH1 was set to AMBER
Added comment: PLCH1 is currently not associated with any phenotype in OMIM (last edited on 16/06/2009) or Gene2Phenotype.

- PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease.
Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Microcephaly v1.3 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, MIM#613398 to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Microcephaly v1.2 DDX11 Zornitza Stark Publications for gene: DDX11 were set to 31824187; 20137776; 23033317; 30216658
Microcephaly v1.2 DDX11 Zornitza Stark Publications for gene: DDX11 were set to PMID: 31824187; 20137776; 23033317.
Microcephaly v1.1 DDX11 Zornitza Stark reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3675 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Intellectual disability syndromic and non-syndromic v0.3675 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3675 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Intellectual disability syndromic and non-syndromic v0.3674 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Intellectual disability syndromic and non-syndromic v0.3673 DDX11 Zornitza Stark Mode of inheritance for gene: DDX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3672 DDX11 Zornitza Stark reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7191 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Mendeliome v0.7191 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Mendeliome v0.7191 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Mendeliome v0.7190 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Mendeliome v0.7189 DDX11 Zornitza Stark Mode of inheritance for gene: DDX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7188 DDX11 Zornitza Stark reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.54 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Chromosome Breakage Disorders v0.54 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.54 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Chromosome Breakage Disorders v0.53 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Chromosome Breakage Disorders v0.52 DDX11 Zornitza Stark Mode of inheritance for gene: DDX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.51 DDX11 Zornitza Stark edited their review of gene: DDX11: Changed phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252
Chromosome Breakage Disorders v0.51 DDX11 Zornitza Stark reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7188 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Mendeliome v0.7188 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7188 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Mendeliome v0.7188 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Monogenic Diabetes v0.12 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7187 PDIA6 Zornitza Stark gene: PDIA6 was added
gene: PDIA6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to AMBER
Added comment: Amber in view of the good quality functional data.

1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Monogenic Diabetes v0.11 PDIA6 Zornitza Stark reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v0.141 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.140 PDIA6 Zornitza Stark reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Ciliopathies v0.62 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Skeletal Ciliopathies v0.62 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.62 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Skeletal Ciliopathies v0.62 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Skeletal Ciliopathies v0.61 PDIA6 Zornitza Stark reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7186 EXOSC1 Zornitza Stark Marked gene: EXOSC1 as ready
Mendeliome v0.7186 EXOSC1 Zornitza Stark Gene: exosc1 has been classified as Red List (Low Evidence).
Mendeliome v0.7186 EXOSC1 Zornitza Stark gene: EXOSC1 was added
gene: EXOSC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC1 were set to 33463720
Phenotypes for gene: EXOSC1 were set to Pontocerebellar hypoplasia
Review for gene: EXOSC1 was set to RED
Added comment: An 8‐months‐old male with developmental delay, microcephaly, subtle dysmorphism, hypotonia, pontocerebellar hypoplasia and delayed myelination. Similarly affected elder sibling succumbed at the age of 4‐years 6‐months. Exome sequencing revealed a homozygous missense variant (c.104C >T, p.Ser35Leu) in EXOSC1. In silico mutagenesis revealed loss of a polar contact with neighbouring Leu37 residue. Quantitative real‐time PCR indicated no appreciable differences in EXOSC1 transcript levels. Immunoblotting and blue native PAGE revealed reduction in the EXOSC1 protein levels and EXO9 complex in the proband, respectively. Of note, bi‐allelic variants in other exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.4 EXOSC1 Zornitza Stark Marked gene: EXOSC1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.4 EXOSC1 Zornitza Stark Gene: exosc1 has been classified as Red List (Low Evidence).
Mendeliome v0.7185 CACNA1H Paul De Fazio edited their review of gene: CACNA1H: Changed publications: 27729216, 25907736, 31126930, 16754686, 32571372
Mendeliome v0.7185 CACNA1H Paul De Fazio reviewed gene: CACNA1H: Rating: GREEN; Mode of pathogenicity: None; Publications: 27729216, 25907736, 31126930; Phenotypes: Hyperaldosteronism, familial, type IV MIM#617027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Autism v0.141 CACNA1H Paul De Fazio reviewed gene: CACNA1H: Rating: RED; Mode of pathogenicity: None; Publications: 16754686, 32571372; Phenotypes: Autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Liver Failure_Paediatric v1.6 MED12 Zornitza Stark Marked gene: MED12 as ready
Liver Failure_Paediatric v1.6 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.163 MED12 Zornitza Stark Marked gene: MED12 as ready
Syndromic Retinopathy v0.163 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Mendeliome v0.7185 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450 to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, OMIM #612726
Mendeliome v0.7184 MED12 Zornitza Stark Publications for gene: MED12 were set to 33244166; 32174975; 30006928; 27312080
Mendeliome v0.7183 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33244166; Phenotypes: Hardikar syndrome, OMIM #612726; Mode of inheritance: Other
Clefting disorders v0.110 MED12 Zornitza Stark Marked gene: MED12 as ready
Clefting disorders v0.110 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Clefting disorders v0.110 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; Hardikar syndrome, OMIM #612726
Clefting disorders v0.109 MED12 Zornitza Stark Publications for gene: MED12 were set to 12784307
Mendeliome v0.7183 UBE4A Zornitza Stark Marked gene: UBE4A as ready
Mendeliome v0.7183 UBE4A Zornitza Stark Gene: ube4a has been classified as Green List (High Evidence).
Mendeliome v0.7183 UBE4A Zornitza Stark Classified gene: UBE4A as Green List (high evidence)
Mendeliome v0.7183 UBE4A Zornitza Stark Gene: ube4a has been classified as Green List (High Evidence).
Mendeliome v0.7182 UBE4A Zornitza Stark gene: UBE4A was added
gene: UBE4A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBE4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE4A were set to 33420346
Phenotypes for gene: UBE4A were set to Intellectual disability and global developmental delay
Review for gene: UBE4A was set to GREEN
Added comment: 8 individuals, from 4 unrelated families, with syndromic intellectual disability and global developmental delay (other clinical features included hypotonia, short stature, seizures, and behaviour disorder. Exome sequencing identified biallelic loss-of-function variants in UBE4A in the 4 families, with variants segregating with disease and parents carriers. They demonstrated that UBE4A loss-of-function variants reduced RNA expression and protein levels in clinical samples. Mice generated to mimic patient-specific Ube4a loss-of-function variant exhibited muscular and neurological/behavioural abnormalities, some of which are suggestive of the clinical abnormalities seen in the affected individuals.
Sources: Literature
Polydactyly v0.192 MAPKAPK5 Zornitza Stark Marked gene: MAPKAPK5 as ready
Polydactyly v0.192 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Polydactyly v0.192 MAPKAPK5 Zornitza Stark Classified gene: MAPKAPK5 as Green List (high evidence)
Polydactyly v0.192 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Polydactyly v0.191 MAPKAPK5 Zornitza Stark gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 3344202
Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic
Review for gene: MAPKAPK5 was set to GREEN
Added comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers. Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization.
Sources: Literature
Mendeliome v0.7181 MAPKAPK5 Zornitza Stark Marked gene: MAPKAPK5 as ready
Mendeliome v0.7181 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Mendeliome v0.7181 MAPKAPK5 Zornitza Stark Classified gene: MAPKAPK5 as Green List (high evidence)
Mendeliome v0.7181 MAPKAPK5 Zornitza Stark Gene: mapkapk5 has been classified as Green List (High Evidence).
Mendeliome v0.7180 MAPKAPK5 Zornitza Stark gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 3344202
Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic
Review for gene: MAPKAPK5 was set to GREEN
Added comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.

Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization.
Sources: Literature
Peroxisomal Disorders v0.19 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154) to Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154); spastic paraparesis and bilateral cataracts
Peroxisomal Disorders v0.18 FAR1 Zornitza Stark Publications for gene: FAR1 were set to 25439727
Peroxisomal Disorders v0.17 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Peroxisomal Disorders v0.16 FAR1 Zornitza Stark Classified gene: FAR1 as Green List (high evidence)
Peroxisomal Disorders v0.16 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.15 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33239752; Phenotypes: spastic paraparesis and bilateral cataracts; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3672 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; 33239752
Intellectual disability syndromic and non-syndromic v0.3671 FAR1 Zornitza Stark Publications for gene: FAR1 were set to 25439727
Intellectual disability syndromic and non-syndromic v0.3670 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3669 FAR1 Zornitza Stark Classified gene: FAR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3669 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.20 CACNA1H Paul De Fazio reviewed gene: CACNA1H: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27729216, 25907736, 31126930; Phenotypes: Hyperaldosteronism, familial, type IV MIM#617027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3668 FAR1 Zornitza Stark edited their review of gene: FAR1: Added comment: PMID 33239752: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.; Changed rating: GREEN; Changed publications: 25439727, 33239752; Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154, spastic paraparesis and bilateral cataracts; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7179 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; spastic paraparesis and bilateral cataracts
Mendeliome v0.7178 FAR1 Zornitza Stark Publications for gene: FAR1 were set to 25439727
Mendeliome v0.7177 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7176 FAR1 Zornitza Stark Classified gene: FAR1 as Green List (high evidence)
Mendeliome v0.7176 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Mendeliome v0.7175 FAR1 Zornitza Stark edited their review of gene: FAR1: Added comment: PMID33239752: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.; Changed rating: GREEN; Changed publications: 25439727, 33239752; Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154, spastic paraparesis and bilateral cataracts; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.274 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Cataract v0.274 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Cataract v0.274 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts to spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Cataract v0.273 FAR1 Zornitza Stark Publications for gene: FAR1 were set to PMID: 33239752
Cataract v0.272 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.271 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v1.10 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Hereditary Spastic Paraplegia v1.10 FAR1 Zornitza Stark Added comment: Comment when marking as ready: Note bi-allelic disorder Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 also has spasticity as a feature, in addition to ID and cataracts.
Hereditary Spastic Paraplegia v1.10 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.10 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts to spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Hereditary Spastic Paraplegia v1.9 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1056 GRIA3 Zornitza Stark Marked gene: GRIA3 as ready
Genetic Epilepsy v0.1056 GRIA3 Zornitza Stark Gene: gria3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1056 GRIA3 Zornitza Stark Classified gene: GRIA3 as Green List (high evidence)
Genetic Epilepsy v0.1056 GRIA3 Zornitza Stark Gene: gria3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1055 GRIA3 Zornitza Stark gene: GRIA3 was added
gene: GRIA3 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GRIA3 were set to 32977175; 17989220
Phenotypes for gene: GRIA3 were set to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)
Review for gene: GRIA3 was set to GREEN
Added comment: PMID: 32977175;17989220: Around 20 individuals with ID reported, mostly males inherited from unaffected mother. Missense have been shown to result in either protein expression reduction or minimal or no channel current, only a couple PTC reported. ID ranges from mild to severe, epilepsy has not been reported in all patients (6/19 by PMID: 32977175), and different types of epilepsy were found.
Sources: Expert Review
Mendeliome v0.7175 GRIA3 Zornitza Stark Marked gene: GRIA3 as ready
Mendeliome v0.7175 GRIA3 Zornitza Stark Gene: gria3 has been classified as Green List (High Evidence).
Mendeliome v0.7175 GRIA3 Zornitza Stark Phenotypes for gene: GRIA3 were changed from to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)
Mendeliome v0.7174 GRIA3 Zornitza Stark Publications for gene: GRIA3 were set to
Mendeliome v0.7173 GRIA3 Zornitza Stark Mode of inheritance for gene: GRIA3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7172 GRIA3 Zornitza Stark reviewed gene: GRIA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977175, 17989220; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3668 GRIA3 Zornitza Stark Marked gene: GRIA3 as ready
Intellectual disability syndromic and non-syndromic v0.3668 GRIA3 Zornitza Stark Gene: gria3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3668 GRIA3 Zornitza Stark Phenotypes for gene: GRIA3 were changed from to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)
Intellectual disability syndromic and non-syndromic v0.3667 GRIA3 Zornitza Stark Publications for gene: GRIA3 were set to
Intellectual disability syndromic and non-syndromic v0.3666 GRIA3 Zornitza Stark Mode of inheritance for gene: GRIA3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Incidentalome v0.61 NTHL1 Zornitza Stark Marked gene: NTHL1 as ready
Incidentalome v0.61 NTHL1 Zornitza Stark Gene: nthl1 has been classified as Green List (High Evidence).
Incidentalome v0.61 NTHL1 Zornitza Stark Classified gene: NTHL1 as Green List (high evidence)
Incidentalome v0.61 NTHL1 Zornitza Stark Gene: nthl1 has been classified as Green List (High Evidence).
Incidentalome v0.60 NTHL1 Zornitza Stark gene: NTHL1 was added
gene: NTHL1 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: NTHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTHL1 were set to 33454955
Phenotypes for gene: NTHL1 were set to NTHL1-associated cancer syndrome
Review for gene: NTHL1 was set to GREEN
Added comment: More than 10 unrelated families reported with a hereditary cancer syndrome predisposing to adenomatous polyposis and colorectal cancer. Half of biallelic carriers also displayed multiple colonic or extra-colonic primary tumors, mainly breast, endometrium, urothelium, and brain tumours. For digestive cancers, average age at diagnosis was 56.2 years.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3665 GRIA3 Michelle Torres reviewed gene: GRIA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977175, 17989220; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.271 FAR1 Chirag Patel Classified gene: FAR1 as Green List (high evidence)
Cataract v0.271 FAR1 Chirag Patel Gene: far1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.8 FAR1 Chirag Patel Classified gene: FAR1 as Green List (high evidence)
Hereditary Spastic Paraplegia v1.8 FAR1 Chirag Patel Gene: far1 has been classified as Green List (High Evidence).
Cataract v0.270 FAR1 Chirag Patel gene: FAR1 was added
gene: FAR1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAR1 were set to PMID: 33239752
Phenotypes for gene: FAR1 were set to spastic paraparesis and bilateral cataracts
Review for gene: FAR1 was set to GREEN
Added comment: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.
Sources: Literature
Hereditary Spastic Paraplegia v1.7 FAR1 Chirag Patel gene: FAR1 was added
gene: FAR1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAR1 were set to PMID: 33239752
Phenotypes for gene: FAR1 were set to spastic paraparesis and bilateral cataracts
Review for gene: FAR1 was set to GREEN
Added comment: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3665 MAPKAPK5 Chirag Patel Classified gene: MAPKAPK5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3665 MAPKAPK5 Chirag Patel Gene: mapkapk5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3664 MAPKAPK5 Chirag Patel gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to PMID: 3344202
Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic
Review for gene: MAPKAPK5 was set to GREEN
Added comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.

Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3663 UBE4A Chirag Patel Classified gene: UBE4A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3663 UBE4A Chirag Patel Gene: ube4a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3662 UBE4A Chirag Patel gene: UBE4A was added
gene: UBE4A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UBE4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE4A were set to PMID: 33420346
Phenotypes for gene: UBE4A were set to Intellectual disability and global developmental delay
Review for gene: UBE4A was set to GREEN
Added comment: 8 individuals, from 4 unrelated families, with syndromic intellectual disability and global developmental delay (other clinical features included hypotonia, short stature, seizures, and behaviour disorder. Exome sequencing identified biallelic loss-of-function variants in UBE4A in the 4 families, with variants segregating with disease and parents carriers. They demonstrated that UBE4A loss-of-function variants reduced RNA expression and protein levels in clinical samples. Mice generated to mimic patient-specific Ube4a loss-of-function variant exhibited muscular and neurological/behavioural abnormalities, some of which are suggestive of the clinical abnormalities seen in the affected individuals.
Sources: Literature
Clefting disorders v0.108 MED12 Chirag Patel Classified gene: MED12 as Green List (high evidence)
Clefting disorders v0.108 MED12 Chirag Patel Gene: med12 has been classified as Green List (High Evidence).
Clefting disorders v0.107 MED12 Chirag Patel reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33244166; Phenotypes: Hardikar syndrome, OMIM #612726; Mode of inheritance: Other
Syndromic Retinopathy v0.163 MED12 Chirag Patel Classified gene: MED12 as Green List (high evidence)
Syndromic Retinopathy v0.163 MED12 Chirag Patel Gene: med12 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.6 MED12 Chirag Patel Classified gene: MED12 as Green List (high evidence)
Liver Failure_Paediatric v1.6 MED12 Chirag Patel Gene: med12 has been classified as Green List (High Evidence).
Liver Failure_Paediatric v1.5 MED12 Chirag Patel gene: MED12 was added
gene: MED12 was added to Liver Failure_Paediatric. Sources: Literature
Mode of inheritance for gene: MED12 was set to Other
Publications for gene: MED12 were set to PMID: 33244166
Phenotypes for gene: MED12 were set to Hardikar syndrome, OMIM #612726
Review for gene: MED12 was set to GREEN
Added comment: 7 female individuals (2 previously reported and 5 unpublished) reported with a clinical diagnosis of Hardikar syndrome (rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation, but normal cognition).

Exome sequencing identified de novo pathogenic nonsense and frameshift variants in MED12 in all 7 individuals. Evidence of extremely skewed XCI in all patients with informative testing. No functional assays.

Note: pathogenic missense variants in MED12 associated with Opitz-Kaveggia syndrome, Lujan syndrome, Ohdo syndrome, and nonsyndromic intellectual disability, primarily in males
Sources: Literature
Syndromic Retinopathy v0.162 MED12 Chirag Patel gene: MED12 was added
gene: MED12 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: MED12 was set to Other
Publications for gene: MED12 were set to PMID: 33244166
Phenotypes for gene: MED12 were set to Hardikar syndrome, OMIM #612726
Review for gene: MED12 was set to GREEN
Added comment: 7 female individuals (2 previously reported and 5 unpublished) reported with a clinical diagnosis of Hardikar syndrome (rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation, but normal cognition).

Exome sequencing identified de novo pathogenic nonsense and frameshift variants in MED12 in all 7 individuals. Evidence of extremely skewed XCI in all patients with informative testing. No functional assays.

Note: pathogenic missense variants in MED12 associated with Opitz-Kaveggia syndrome, Lujan syndrome, Ohdo syndrome, and nonsyndromic intellectual disability, primarily in males
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.4 EXOSC1 Chirag Patel gene: EXOSC1 was added
gene: EXOSC1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC1 were set to PMID: 33463720
Phenotypes for gene: EXOSC1 were set to Pontocerebellar hypoplasia
Review for gene: EXOSC1 was set to RED
Added comment: An 8‐months‐old male with developmental delay, microcephaly, subtle dysmorphism, hypotonia, pontocerebellar hypoplasia and delayed myelination. Similarly affected elder sibling succumbed at the age of 4‐years 6‐months. Exome sequencing revealed a homozygous missense variant (c.104C >T, p.Ser35Leu) in EXOSC1. In silico mutagenesis revealed loss of a polar contact with neighbouring Leu37 residue. Quantitative real‐time PCR indicated no appreciable differences in EXOSC1 transcript levels. Immunoblotting and blue native PAGE revealed reduction in the EXOSC1 protein levels and EXO9 complex in the proband, respectively. Of note, bi‐allelic variants in other exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively.
Sources: Literature
Skeletal Ciliopathies v0.61 PDIA6 Chirag Patel gene: PDIA6 was added
gene: PDIA6 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to PMID: 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to RED
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.140 PDIA6 Chirag Patel gene: PDIA6 was added
gene: PDIA6 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to PMID: 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to RED
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Monogenic Diabetes v0.11 PDIA6 Chirag Patel gene: PDIA6 was added
gene: PDIA6 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to PMID: 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to RED
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Literature
Mendeliome v0.7172 FAT1 Ee Ming Wong changed review comment from: - 5 consanguineous families with homozygous frameshift mutations in FAN1
- FAN1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice
- in human retinal pigment epithelium (RPE) cells, FAN1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation; to: - 5 consanguineous families with homozygous frameshift mutations in FAT1
- FAT1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice
- in human retinal pigment epithelium (RPE) cells, FAT1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation
Proteinuria v0.159 FAT1 Ee Ming Wong changed review comment from: - Four affected individuals who are homozygous or compound heterozgous carriers of a FAN1 variant
- Fibroblasts from a homozygous FAN1 carriers demonstrated loss of FAN1 protein and decreased cell migration rate compared to WT control cells.
- Fat1 knockdown in renal tubular cells reduces migration and results in defective lumen formation. Knockdown of fat1 in zebrafish results in pronephric cysts.; to: - Four affected individuals who are homozygous or compound heterozgous carriers of a FAT1 variant
- Fibroblasts from a homozygous FAT1 carriers demonstrated loss of FAN1 protein and decreased cell migration rate compared to WT control cells.
- Fat1 knockdown in renal tubular cells reduces migration and results in defective lumen formation. Knockdown of fat1 in zebrafish results in pronephric cysts.
Lysosomal Storage Disorder v1.0 Zornitza Stark promoted panel to version 1.0
Lysosomal Storage Disorder v0.192 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Lysosomal Storage Disorder v0.192 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.192 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600; GM1-gangliosidosis, type III, MIM# 230650; Mucopolysaccharidosis type IVB (Morquio), MIM# 253010
Lysosomal Storage Disorder v0.191 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Lysosomal Storage Disorder v0.190 GLB1 Zornitza Stark Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.189 GLB1 Zornitza Stark reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1907800, 1909089, 17309651, 11511921; Phenotypes: GM1-gangliosidosis, type I, MIM# 230500, GM1-gangliosidosis, type II, MIM# 230600, GM1-gangliosidosis, type III, MIM# 230650, Mucopolysaccharidosis type IVB (Morquio), MIM# 253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Tag founder tag was added to gene: SLC17A5.
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.189 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from to Salla disease 604369; MONDO:0011449; Sialic acid storage disorder, infantile 269920; MONDO:0010027
Mendeliome v0.7172 SLC17A5 Zornitza Stark Tag founder tag was added to gene: SLC17A5.
Mendeliome v0.7172 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Mendeliome v0.7172 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Mendeliome v0.7172 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from to Salla disease 604369; MONDO:0011449; Sialic acid storage disorder, infantile 269920; MONDO:0010027
Mendeliome v0.7171 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Mendeliome v0.7170 SLC17A5 Zornitza Stark Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.188 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Mendeliome v0.7169 SLC17A5 Zornitza Stark Deleted their comment
Mendeliome v0.7169 SLC17A5 Zornitza Stark edited their review of gene: SLC17A5: Added comment: Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form or a slowly progressive adult form, which is prevalent in Finland and referred to as Salla disease. p.Arg39Cys is a founder Finnish variant. Multiple families reported.; Changed publications: 10581036, 10947946; Changed phenotypes: Salla disease 604369, MONDO:0011449, Sialic acid storage disorder, infantile 269920, MONDO:0010027
Lysosomal Storage Disorder v0.187 SLC17A5 Zornitza Stark Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.186 SLC17A5 Zornitza Stark reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581036, 10947946; Phenotypes: Salla disease 604369, MONDO:0011449, Sialic acid storage disorder, infantile 269920, MONDO:0010027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3661 SGSH Zornitza Stark Marked gene: SGSH as ready
Intellectual disability syndromic and non-syndromic v0.3661 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3661 SGSH Zornitza Stark Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655
Intellectual disability syndromic and non-syndromic v0.3660 SGSH Zornitza Stark Publications for gene: SGSH were set to
Intellectual disability syndromic and non-syndromic v0.3659 SGSH Zornitza Stark Mode of inheritance for gene: SGSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3658 SGSH Zornitza Stark reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900, MONDO:0009655; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7169 SGSH Zornitza Stark Marked gene: SGSH as ready
Mendeliome v0.7169 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Mendeliome v0.7169 SGSH Zornitza Stark Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655
Mendeliome v0.7168 SGSH Zornitza Stark Publications for gene: SGSH were set to
Mendeliome v0.7167 SGSH Zornitza Stark Mode of inheritance for gene: SGSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7166 SGSH Zornitza Stark reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900, MONDO:0009655; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.186 SGSH Zornitza Stark Marked gene: SGSH as ready
Lysosomal Storage Disorder v0.186 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.186 SGSH Zornitza Stark Phenotypes for gene: SGSH were changed from to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655
Lysosomal Storage Disorder v0.185 SGSH Zornitza Stark Publications for gene: SGSH were set to
Lysosomal Storage Disorder v0.184 SGSH Zornitza Stark Mode of inheritance for gene: SGSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.183 SGSH Zornitza Stark reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493035, 9158154, 9401012, 9554748; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7166 SMPD1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Niemann-Pick disease (NPD) refers to a group of disorders that present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2-3years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings.

Well established gene-disease association.
Intellectual disability syndromic and non-syndromic v0.3658 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Intellectual disability syndromic and non-syndromic v0.3658 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3658 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756
Intellectual disability syndromic and non-syndromic v0.3657 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Intellectual disability syndromic and non-syndromic v0.3656 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Niemann-Pick disease (NPD) refers to a group of disorders that present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2-3years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings.

Well established gene-disease association.
Intellectual disability syndromic and non-syndromic v0.3655 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32292456, 32280632, 28164782; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7166 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Mendeliome v0.7166 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Mendeliome v0.7166 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871
Mendeliome v0.7165 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Mendeliome v0.7164 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark edited their review of gene: SMPD1: Changed publications: 32292456, 32280632, 28164782
Mendeliome v0.7163 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32292456, 32280632, 28164782; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756, Niemann-Pick disease, type B, MIM# 607616, MONDO:0011871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.183 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871
Lysosomal Storage Disorder v0.182 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Lysosomal Storage Disorder v0.181 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.180 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756, Niemann-Pick disease, type B, MIM# 607616, MONDO:0011871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.296 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Regression v0.296 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Regression v0.296 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769
Regression v0.295 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Regression v0.294 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.293 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark changed review comment from: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.; to: Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.

Clinical course is characterised by progressive neurological deterioration and seizures.
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Mendeliome v0.7163 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270 to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270; MONDO:0012235
Mendeliome v0.7162 TPP1 Zornitza Stark Publications for gene: TPP1 were set to 31283065
Lysosomal Storage Disorder v0.180 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270; MONDO:0012235
Mendeliome v0.7161 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769, Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270, MONDO:0012235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.179 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Lysosomal Storage Disorder v0.178 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.177 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769, Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270, MONDO:0012235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7161 PSAP Zornitza Stark changed review comment from: Well established gene-disease association for bi-allelic variants. Early-onset PD reported with mono-allelic variants.; to: Well established gene-disease association for bi-allelic variants. Early-onset PD reported with mono-allelic variants.

The PSAP gene encodes saposins A, B, C and D. Variants resulting in PSAP null allele can be shared in patients with the deficit of other saposins (A-D) or whole prosaposin. The patient's phenotype depends then on the nature of the second allele - atypical Gaucher disease in case of saposin A, MLD in case of saposin B, and Krabbe disease in case of saposin C impairing mutations. The clinically most severe prosaposin deficit is caused by the presence of two PSAP null alleles.
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark edited their review of gene: PSAP: Changed phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590, Gaucher disease, atypical, MIM# 610539, MONDO:0012517
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark Marked gene: PSAP as ready
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark Gene: psap has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.177 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from to Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; MONDO:0012720; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; MONDO:0009590; Gaucher disease, atypical, MIM# 610539; MONDO:0012517
Mendeliome v0.7161 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from Parkinson disease, AD; Combined SAP deficiency 611721; Gaucher disease, atypical, MIM# 610539; Krabbe disease, atypical, MIM# 611722; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 to Parkinson disease, AD; Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; MONDO:0012720; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; MONDO:0009590; Gaucher disease, atypical, MIM# 610539; MONDO:0012517
Mendeliome v0.7160 PSAP Zornitza Stark edited their review of gene: PSAP: Changed phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590, Gaucher disease, atypical, MIM# 610539, MONDO:0012517
Lysosomal Storage Disorder v0.176 PSAP Zornitza Stark Publications for gene: PSAP were set to
Mendeliome v0.7160 PSAP Zornitza Stark edited their review of gene: PSAP: Changed publications: 32201884, 10682309, 1371116, 15773042, 31061751, 30632081
Lysosomal Storage Disorder v0.175 PSAP Zornitza Stark Mode of inheritance for gene: PSAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.174 PSAP Zornitza Stark reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10682309, 1371116, 15773042, 31061751, 30632081; Phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7160 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Mendeliome v0.7160 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Mendeliome v0.7160 PPT1 Zornitza Stark Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744
Mendeliome v0.7159 PPT1 Zornitza Stark Publications for gene: PPT1 were set to
Mendeliome v0.7158 PPT1 Zornitza Stark Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7157 PPT1 Zornitza Stark reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 9664077; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730, MONDO:0009744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.174 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Lysosomal Storage Disorder v0.174 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.174 PPT1 Zornitza Stark Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744
Lysosomal Storage Disorder v0.173 PPT1 Zornitza Stark Publications for gene: PPT1 were set to
Lysosomal Storage Disorder v0.172 PPT1 Zornitza Stark Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.171 PPT1 Zornitza Stark reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 9664077; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730, MONDO:0009744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.171 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Lysosomal Storage Disorder v0.171 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.171 NPC2 Zornitza Stark Phenotypes for gene: NPC2 were changed from to Niemann-pick disease, type C2, MIM# 607625; MONDO:0011873
Lysosomal Storage Disorder v0.170 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
Lysosomal Storage Disorder v0.169 NPC2 Zornitza Stark Mode of inheritance for gene: NPC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.168 NPC2 Zornitza Stark reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11125141, 17470133; Phenotypes: Niemann-pick disease, type C2, MIM# 607625, MONDO:0011873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.168 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Lysosomal Storage Disorder v0.168 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.168 NPC1 Zornitza Stark Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1 and type D, MIM# 257220; MONDO:0009757
Lysosomal Storage Disorder v0.167 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
Lysosomal Storage Disorder v0.166 NPC1 Zornitza Stark Mode of inheritance for gene: NPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.165 NPC1 Zornitza Stark reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9211849, 11333381; Phenotypes: Niemann-Pick disease, type C1 and type D, MIM# 257220, MONDO:0009757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7157 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Mendeliome v0.7157 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Mendeliome v0.7157 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from to Sialidosis, type I and type II, MIM# 256550; MONDO:0009738
Mendeliome v0.7156 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Mendeliome v0.7155 NEU1 Zornitza Stark Mode of inheritance for gene: NEU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7154 NEU1 Zornitza Stark reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8985184, 9054950, 11063730; Phenotypes: Sialidosis, type I and type II, MIM# 256550, MONDO:0009738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.165 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Lysosomal Storage Disorder v0.165 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.165 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from to Sialidosis, type I and type II, MIM# 256550; MONDO:0009738
Lysosomal Storage Disorder v0.164 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Lysosomal Storage Disorder v0.163 NEU1 Zornitza Stark Mode of inheritance for gene: NEU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.162 NEU1 Zornitza Stark reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8985184, 9054950, 11063730; Phenotypes: Sialidosis, type I and type II, MIM# 256550, MONDO:0009738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.162 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Lysosomal Storage Disorder v0.162 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.162 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; MONDO:0009656; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; MONDO:0014665
Mendeliome v0.7154 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491 to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; MONDO:0009656; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; MONDO:0014665
Mendeliome v0.7153 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Mendeliome v0.7153 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Mendeliome v0.7153 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491
Mendeliome v0.7152 NAGLU Zornitza Stark Publications for gene: NAGLU were set to
Mendeliome v0.7151 NAGLU Zornitza Stark Mode of inheritance for gene: NAGLU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7150 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 25818867, 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920, Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.161 NAGLU Zornitza Stark Publications for gene: NAGLU were set to
Lysosomal Storage Disorder v0.160 NAGLU Zornitza Stark Mode of inheritance for gene: NAGLU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.159 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 25818867, 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920, Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.159 NAGA Zornitza Stark Marked gene: NAGA as ready
Lysosomal Storage Disorder v0.159 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Mendeliome v0.7150 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from Kanzaki disease (MIM # 609242); Schindler disease, type I or III (MIM# 609241) to Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779
Mendeliome v0.7149 NAGA Zornitza Stark Publications for gene: NAGA were set to 1313741; 31468281
Lysosomal Storage Disorder v0.159 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from to Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779
Mendeliome v0.7148 NAGA Zornitza Stark reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease, MIM# 609242, Schindler disease, type I and type II 609241, alpha-N-acetylgalactosaminidase deficiency MONDO:0017779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.158 NAGA Zornitza Stark Publications for gene: NAGA were set to
Lysosomal Storage Disorder v0.157 NAGA Zornitza Stark Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.156 NAGA Zornitza Stark reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease, MIM# 609242, Schindler disease, type I and type II 609241, alpha-N-acetylgalactosaminidase deficiency MONDO:0017779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Marked gene: MIA3 as ready
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Gene: mia3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Classified gene: MIA3 as Amber List (moderate evidence)
Skeletal dysplasia v0.90 MIA3 Zornitza Stark Gene: mia3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.89 MIA3 Zornitza Stark gene: MIA3 was added
gene: MIA3 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIA3 were set to 32101163; 33778321
Phenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269
Review for gene: MIA3 was set to AMBER
Added comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability. Four affected siblings reported, homozygous variant affecting splicing. Mouse model has absence of bone mineralization.
Sources: Expert list
Mendeliome v0.7148 MIA3 Zornitza Stark Marked gene: MIA3 as ready
Mendeliome v0.7148 MIA3 Zornitza Stark Gene: mia3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7148 MIA3 Zornitza Stark Classified gene: MIA3 as Amber List (moderate evidence)
Mendeliome v0.7148 MIA3 Zornitza Stark Gene: mia3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7147 MIA3 Zornitza Stark changed review comment from: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability.

Four affected siblings reported. Mouse model has absence of bone mineralization.
Sources: Expert list; to: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability.

Four affected siblings reported, homozygous variant affecting splicing. Mouse model has absence of bone mineralization.
Sources: Expert list
Mendeliome v0.7147 MIA3 Zornitza Stark gene: MIA3 was added
gene: MIA3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIA3 were set to 32101163; 33778321
Phenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269
Review for gene: MIA3 was set to AMBER
Added comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability.

Four affected siblings reported. Mouse model has absence of bone mineralization.
Sources: Expert list
Regression v0.293 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Regression v0.293 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Regression v0.293 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588
Regression v0.292 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Regression v0.291 MFSD8 Zornitza Stark Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.290 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3655 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Intellectual disability syndromic and non-syndromic v0.3655 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3655 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588
Intellectual disability syndromic and non-syndromic v0.3654 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Intellectual disability syndromic and non-syndromic v0.3653 MFSD8 Zornitza Stark Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3652 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7146 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7 610951; Macular dystrophy with central cone involvement 616170 to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588; Macular dystrophy with central cone involvement, MIM# 616170; MONDO:0014515
Mendeliome v0.7145 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to 31006324
Mendeliome v0.7144 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763, 25227500; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588, Macular dystrophy with central cone involvement, MIM# 616170, MONDO:0014515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.156 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Lysosomal Storage Disorder v0.156 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.156 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588; Macular dystrophy with central cone involvement, MIM# 616170; MONDO:0014515
Lysosomal Storage Disorder v0.155 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Lysosomal Storage Disorder v0.154 MFSD8 Zornitza Stark Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.153 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763, 25227500; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588, Macular dystrophy with central cone involvement, MIM# 616170, MONDO:0014515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3652 MCOLN1 Zornitza Stark Tag SV/CNV tag was added to gene: MCOLN1.
Intellectual disability syndromic and non-syndromic v0.3652 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Intellectual disability syndromic and non-syndromic v0.3652 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3652 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, MIM# 252650; MONDO:0009653
Intellectual disability syndromic and non-syndromic v0.3651 MCOLN1 Zornitza Stark Mode of inheritance for gene: MCOLN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3650 MCOLN1 Zornitza Stark reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV, MIM# 252650, MONDO:0009653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7144 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Mendeliome v0.7144 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Mendeliome v0.7144 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, MIM# 252650; MONDO:0009653
Mendeliome v0.7143 MCOLN1 Zornitza Stark Mode of inheritance for gene: MCOLN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7142 MCOLN1 Zornitza Stark Tag SV/CNV tag was added to gene: MCOLN1.
Mendeliome v0.7142 MCOLN1 Zornitza Stark reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV, MIM# 252650, MONDO:0009653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.153 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV, MIM# 252650 to Mucolipidosis IV, MIM# 252650; MONDO:0009653
Lysosomal Storage Disorder v0.152 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Lysosomal Storage Disorder v0.152 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.152 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from to Mucolipidosis IV, MIM# 252650
Lysosomal Storage Disorder v0.151 MCOLN1 Zornitza Stark Mode of inheritance for gene: MCOLN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.150 MCOLN1 Zornitza Stark Tag SV/CNV tag was added to gene: MCOLN1.
Lysosomal Storage Disorder v0.150 MCOLN1 Zornitza Stark reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV, MIM# 252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3650 MANBA Zornitza Stark Marked gene: MANBA as ready
Intellectual disability syndromic and non-syndromic v0.3650 MANBA Zornitza Stark Gene: manba has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3650 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562
Intellectual disability syndromic and non-syndromic v0.3649 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3648 MANBA Zornitza Stark reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7142 MANBA Zornitza Stark Marked gene: MANBA as ready
Mendeliome v0.7142 MANBA Zornitza Stark Gene: manba has been classified as Green List (High Evidence).
Mendeliome v0.7142 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562
Mendeliome v0.7141 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7140 MANBA Zornitza Stark reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.150 MANBA Zornitza Stark Marked gene: MANBA as ready
Lysosomal Storage Disorder v0.150 MANBA Zornitza Stark Gene: manba has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.150 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562
Lysosomal Storage Disorder v0.149 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.148 MANBA Zornitza Stark reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.290 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Regression v0.290 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Regression v0.290 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Regression v0.289 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.288 MAN2B1 Zornitza Stark reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3648 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Intellectual disability syndromic and non-syndromic v0.3648 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3648 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Intellectual disability syndromic and non-syndromic v0.3647 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3646 MAN2B1 Zornitza Stark reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7140 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Mendeliome v0.7140 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Mendeliome v0.7140 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Mendeliome v0.7139 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7138 MAN2B1 Zornitza Stark reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.148 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Lysosomal Storage Disorder v0.148 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.148 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Lysosomal Storage Disorder v0.147 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lysosomal Storage Disorder v0.146 MAN2B1 Zornitza Stark reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Immunological disorders_SuperPanel v1.3 Bryony Thompson Changed child panels to: Susceptibility to Fungal Infections; Combined Immunodeficiency; Systemic Autoinflammatory Disease_Periodic Fever; Common Variable Immunodeficiency; Disorders of immune dysregulation; Defects of innate immunity; Susceptibility to Viral Infections; Predominantly Antibody Deficiency; Inflammatory bowel disease; Phagocyte Defects; Complement Deficiencies; Severe Combined Immunodeficiency (absent T present B cells); Hyper-IgE syndrome; Severe Combined Immunodeficiency (absent T absent B cells); Mendelian susceptibility to Immune Disorders; Hereditary angioedema
Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital
Hirschsprung disease v0.13 L1CAM Tiong Tan Marked gene: L1CAM as ready
Hirschsprung disease v0.13 L1CAM Tiong Tan Gene: l1cam has been classified as Green List (High Evidence).
Hirschsprung disease v0.13 L1CAM Tiong Tan reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 15148591, 9279760, 11857550, 22344793, 11897831; Phenotypes: Hirschsprung disease in L1CAM syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7138 LIPA Zornitza Stark Marked gene: LIPA as ready