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Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Phenotypes for gene: PGM1 were changed from to Congenital disorder of glycosylation, type It 614921
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Classified gene: SLC35A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.541 SLC35A1 Zornitza Stark gene: SLC35A1 was added
gene: SLC35A1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A1 were set to 28856833; 23873973; 11157507
Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf, MIM# 603585
Review for gene: SLC35A1 was set to AMBER
Added comment: Three unrelated families reported, neurological presentation including seizures in two.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.23 SLC35A1 Zornitza Stark Phenotypes for gene: SLC35A1 were changed from to Congenital disorder of glycosylation, type IIf, MIM# 603585
Congenital Disorders of Glycosylation v0.22 SLC35A1 Zornitza Stark Publications for gene: SLC35A1 were set to
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Marked gene: PIGS as ready
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.21 SLC35A1 Zornitza Stark Mode of inheritance for gene: SLC35A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.20 SLC35A1 Zornitza Stark reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28856833, 23873973, 11157507; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM# 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.540 PIGS Zornitza Stark Marked gene: PIGS as ready
Genetic Epilepsy v0.540 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1693 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1692 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Genetic Epilepsy v0.540 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Genetic Epilepsy v0.540 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.539 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Mendeliome v0.960 PIGS Zornitza Stark Marked gene: PIGS as ready
Mendeliome v0.960 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Mendeliome v0.960 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Mendeliome v0.960 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Marked gene: PIGS as ready
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Mendeliome v0.959 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE
Sources: Expert Review
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.19 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814,
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Review for gene: PIGS was set to GREEN
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.18 PGM1 Zornitza Stark Publications for gene: PGM1 were set to
Congenital Disorders of Glycosylation v0.17 PGM1 Zornitza Stark Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Marked gene: FUK as ready
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.16 PGM1 Zornitza Stark reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24499211; Phenotypes: Congenital disorder of glycosylation, type It 614921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1691 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1690 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Mendeliome v0.958 FUK Zornitza Stark Marked gene: FUK as ready
Mendeliome v0.958 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.958 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Mendeliome v0.958 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.538 FUK Zornitza Stark Marked gene: FUK as ready
Genetic Epilepsy v0.538 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.957 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Genetic Epilepsy v0.538 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Genetic Epilepsy v0.538 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.537 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported; seizures prominent part of the clinical presentation in both.
Sources: Literature
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Marked gene: FUK as ready
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.15 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Genetic Epilepsy v0.536 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Genetic Epilepsy v0.536 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Mendeliome v0.956 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Mendeliome v0.956 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Mendeliome v0.956 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Mendeliome v0.956 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Mendeliome v0.955 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: 7 individuals from 4 unrelated families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1689 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1688 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: 7 individuals from 4 unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.536 ZNF142 Zornitza Stark Marked gene: ZNF142 as ready
Genetic Epilepsy v0.536 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.536 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317
Genetic Epilepsy v0.535 ZNF142 Zornitza Stark Classified gene: ZNF142 as Green List (high evidence)
Genetic Epilepsy v0.535 ZNF142 Zornitza Stark Gene: znf142 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.534 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Genetic Epilepsy v0.534 ZNF142 Zornitza Stark gene: ZNF142 was added
gene: ZNF142 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425
Review for gene: ZNF142 was set to GREEN
gene: ZNF142 was marked as current diagnostic
Added comment: Seven individuals from four unrelated families; 5/7 had seizures.
Sources: Expert list
Genetic Epilepsy v0.533 WDR62 Zornitza Stark Mode of inheritance for gene: WDR62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Classified gene: ZDHHC9 as Green List (high evidence)
Genetic Epilepsy v0.532 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.531 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZDHHC9 were set to 26000327
Phenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, MIM#300799
Review for gene: ZDHHC9 was set to GREEN
gene: ZDHHC9 was marked as current diagnostic
Added comment: A third of reported individuals have had seizures.
Sources: Expert list
Genetic Epilepsy v0.530 WDR45B Zornitza Stark Marked gene: WDR45B as ready
Genetic Epilepsy v0.530 WDR45B Zornitza Stark Gene: wdr45b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.530 WDR62 Zornitza Stark reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: 21834044, 20890278, 20729831; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.530 WDR45B Zornitza Stark Phenotypes for gene: WDR45B were changed from to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977
Genetic Epilepsy v0.529 WDR45B Zornitza Stark Publications for gene: WDR45B were set to
Genetic Epilepsy v0.528 WDR45B Zornitza Stark Mode of inheritance for gene: WDR45B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.527 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 28503735, 27431290; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1687 WARS2 Zornitza Stark Classified gene: WARS2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1687 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1686 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WARS2 were set to 29783990; 28236339; 29120065; 28650581; 28905505
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Review for gene: WARS2 was set to GREEN
gene: WARS2 was marked as current diagnostic
Added comment: 7 unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Classified gene: WARS2 as Green List (high evidence)
Genetic Epilepsy v0.527 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.526 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WARS2 were set to 29783990; 28236339; 29120065; 28650581; 28905505
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710
Review for gene: WARS2 was set to GREEN
gene: WARS2 was marked as current diagnostic
Added comment: 7 unrelated families reported, most affected individuals had seizures as part of this mitochondrial disorder.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Classified gene: VPS11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1685 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1684 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683
Review for gene: VPS11 was set to GREEN
Added comment: ID, (variable) acquired microcephaly with hypomyelination; seizures in several reported individuals. 13 individuals from 7 Ashkenazi Jewish families, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly); a different variant (p.Leu387_Gly395del) reported in a consanguineous family.
Sources: Expert list
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Classified gene: VPS11 as Green List (high evidence)
Genetic Epilepsy v0.525 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.524 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683
Review for gene: VPS11 was set to GREEN
gene: VPS11 was marked as current diagnostic
Added comment: ID, (variable) acquired microcephaly with hypomyelination; seizures in several reported individuals.

13 individuals from 7 Ashkenazi Jewish families, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly); a different variant (p.Leu387_Gly395del) reported in a consanguineous family.
Sources: Expert list
Genetic Epilepsy v0.523 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Genetic Epilepsy v0.523 VLDLR Zornitza Stark Gene: vldlr has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.523 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.522 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050
Genetic Epilepsy v0.522 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Genetic Epilepsy v0.521 VLDLR Zornitza Stark Classified gene: VLDLR as Amber List (moderate evidence)
Genetic Epilepsy v0.521 VLDLR Zornitza Stark Gene: vldlr has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.520 VLDLR Zornitza Stark reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: None; Publications: 16174313, 18326629; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Marked gene: VAMP2 as ready
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Classified gene: VAMP2 as Green List (high evidence)
Genetic Epilepsy v0.520 VAMP2 Zornitza Stark Gene: vamp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.519 VAMP2 Zornitza Stark gene: VAMP2 was added
gene: VAMP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to Cortical visual impairment; Seizures; Stereotypic behaviour; Generalized hypotonia; Intellectual disability
Review for gene: VAMP2 was set to GREEN
gene: VAMP2 was marked as current diagnostic
Added comment: Five unrelated individuals reported, three had seizures as part of the phenotype of this neurodevelopmental condition.
Sources: Expert list
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Classified gene: TUBB2A as Green List (high evidence)
Genetic Epilepsy v0.518 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.517 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB2A were set to 24702957; 25326637
Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, MIM#615763
Review for gene: TUBB2A was set to GREEN
gene: TUBB2A was marked as current diagnostic
Added comment: Seizures are part of the phenotype of the tubulinopathies.
Sources: Expert list
Genetic Epilepsy v0.516 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Genetic Epilepsy v0.516 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.516 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, MIM#613180 to Cortical dysplasia, complex, with other brain malformations 8, MIM#613180
Genetic Epilepsy v0.515 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM#613180
Genetic Epilepsy v0.514 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Genetic Epilepsy v0.513 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.512 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31481326, 19896110; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM#613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.512 TSFM Zornitza Stark Marked gene: TSFM as ready
Genetic Epilepsy v0.512 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.512 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM#610505
Genetic Epilepsy v0.511 TSFM Zornitza Stark Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.510 TSFM Zornitza Stark reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.510 TSEN2 Zornitza Stark Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia, type 2F, MIM#617026
Genetic Epilepsy v0.509 TSEN2 Zornitza Stark Publications for gene: TSEN2 were set to
Genetic Epilepsy v0.508 TSEN2 Zornitza Stark Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.507 TSEN2 Zornitza Stark reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562994, 18711368, 20952379; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM#617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Genetic Epilepsy v0.507 TRRAP Zornitza Stark Phenotypes for gene: TRRAP were changed from to Developmental delay with or without dysmorphic facies and autism, MIM#618454
Genetic Epilepsy v0.506 TRRAP Zornitza Stark Publications for gene: TRRAP were set to
Genetic Epilepsy v0.505 TRRAP Zornitza Stark Mode of inheritance for gene: TRRAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.504 TRRAP Zornitza Stark reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30827496, 28628100; Phenotypes: Developmental delay with or without dysmorphic facies and autism, MIM#618454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Marked gene: TRPM6 as ready
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Classified gene: TRPM6 as Green List (high evidence)
Genetic Epilepsy v0.504 TRPM6 Zornitza Stark Gene: trpm6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.503 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, MIM#602014
Review for gene: TRPM6 was set to GREEN
gene: TRPM6 was marked as current diagnostic
Added comment: Can present with seizures.
Sources: Expert list
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1683 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1683 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment on publications: Additional unpublished case reported by GEL.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to 28777934
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment when marking as ready: Additional unpublished case reported by GEL PanelApp.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Added comment: Comment on publications: Additional unpublished case reported by GEL.
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to 28777934
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1682 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Genetic Epilepsy v0.502 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Genetic Epilepsy v0.501 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Intellectual disability syndromic and non-syndromic v0.1681 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.501 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Intellectual disability syndromic and non-syndromic v0.1680 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1680 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.500 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1679 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.499 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Amber List (moderate evidence)
Genetic Epilepsy v0.499 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.498 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Gene: traf7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.498 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from Cardiac, facial, and digital anomalies with developmental delay, MIM#618164 to Cardiac, facial, and digital anomalies with developmental delay, MIM#618164
Genetic Epilepsy v0.497 TRAF7 Zornitza Stark Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, MIM#618164
Genetic Epilepsy v0.496 TRAF7 Zornitza Stark Publications for gene: TRAF7 were set to
Genetic Epilepsy v0.495 TRAF7 Zornitza Stark Mode of inheritance for gene: TRAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.494 TRAF7 Zornitza Stark Classified gene: TRAF7 as Amber List (moderate evidence)
Genetic Epilepsy v0.494 TRAF7 Zornitza Stark Gene: traf7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.493 TRAF7 Zornitza Stark reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29961569, 27479843, 28135719, 25363760, 25961944; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM#618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Marked gene: TNK2 as ready
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Gene: tnk2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Phenotypes for gene: TNK2 were changed from to severe infantile onset epilepsy
Genetic Epilepsy v0.493 TNK2 Zornitza Stark Publications for gene: TNK2 were set to
Genetic Epilepsy v0.492 TNK2 Zornitza Stark Mode of inheritance for gene: TNK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.491 TNK2 Zornitza Stark reviewed gene: TNK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27977884, 23686771; Phenotypes: severe infantile onset epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Marked gene: TMEM70 as ready
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.491 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052
Genetic Epilepsy v0.490 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052
Genetic Epilepsy v0.490 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Genetic Epilepsy v0.489 TMEM70 Zornitza Stark Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.488 TMEM70 Zornitza Stark Classified gene: TMEM70 as Amber List (moderate evidence)
Genetic Epilepsy v0.488 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.487 TMEM70 Zornitza Stark reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: None; Publications: 18953340, 21147908; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Added comment: Comment when marking as ready: At least 4 families reported, all affected individuals had seizures.
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.487 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM#617698
Genetic Epilepsy v0.486 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Genetic Epilepsy v0.485 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.484 TIMM50 Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM#617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Classified gene: TDP2 as Green List (high evidence)
Genetic Epilepsy v0.484 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.483 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 24658003; 30109272; 31410782
Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23, 616949
Review for gene: TDP2 was set to GREEN
gene: TDP2 was marked as current diagnostic
Added comment: At least 6 individuals from 4 unrelated families reported; ID/seizures/ataxia are a consistent features.
Sources: Expert list
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.482 TBC1D20 Zornitza Stark Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM#615663
Genetic Epilepsy v0.481 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to 24239381
Genetic Epilepsy v0.480 TBC1D20 Zornitza Stark Publications for gene: TBC1D20 were set to
Genetic Epilepsy v0.480 TBC1D20 Zornitza Stark Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.479 TBC1D20 Zornitza Stark Classified gene: TBC1D20 as Amber List (moderate evidence)
Genetic Epilepsy v0.479 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.478 TBC1D20 Zornitza Stark reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM#615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Classified gene: TANGO2 as Green List (high evidence)
Genetic Epilepsy v0.478 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.477 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 26805782; 30245509
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878
Review for gene: TANGO2 was set to GREEN
gene: TANGO2 was marked as current diagnostic
Added comment: Seizures present in around 80% of reported individuals.
Sources: Expert list
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Marked gene: SUCLG1 as ready
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.476 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to 26475597; 27484306
Genetic Epilepsy v0.475 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to
Genetic Epilepsy v0.475 SUCLG1 Zornitza Stark Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Classified gene: SUCLG1 as Amber List (moderate evidence)
Genetic Epilepsy v0.474 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.473 SUCLG1 Zornitza Stark reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26475597, 27484306; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.473 ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 23252400, 31584066; Phenotypes: Epileptic encephalopathy, early infantile, 15 , MIM#615006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Classified gene: SPATA5 as Green List (high evidence)
Genetic Epilepsy v0.473 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.472 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 27246907; 29343804; 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577
Review for gene: SPATA5 was set to GREEN
gene: SPATA5 was marked as current diagnostic
Added comment: More than 15 families have been reported in multiple publications. Clinical features include intellectual disability, epilepsy, microcephaly and hearing loss. May present as epileptic encephalopathy/epilepsy in the first year of life prior to onset of obvious developmental delay.
Sources: Expert list
Genetic Epilepsy v0.471 SMS Zornitza Stark Marked gene: SMS as ready
Genetic Epilepsy v0.471 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Genetic Epilepsy v0.471 SMS Zornitza Stark Classified gene: SMS as Green List (high evidence)
Genetic Epilepsy v0.471 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Genetic Epilepsy v0.470 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SMS were set to 30237987
Phenotypes for gene: SMS were set to Mental retardation X-linked Snyder-Robinson type, 309583
Review for gene: SMS was set to GREEN
gene: SMS was marked as current diagnostic
Added comment: Seizures reported in some affected individuals.
Sources: Expert list
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Marked gene: SMARCA2 as ready
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Classified gene: SMARCA2 as Green List (high evidence)
Genetic Epilepsy v0.469 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.468 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA2 were set to 22366787; 22426308; 27665729
Phenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome, MIM# 601358
Review for gene: SMARCA2 was set to GREEN
gene: SMARCA2 was marked as current diagnostic
Added comment: Seizures reported in about half of affected individuals.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1679 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1678 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1678 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1677 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Review for gene: SLC1A4 was set to GREEN
gene: SLC1A4 was marked as current diagnostic
Added comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Genetic Epilepsy v0.467 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.466 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Review for gene: SLC1A4 was set to GREEN
gene: SLC1A4 was marked as current diagnostic
Added comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants
Sources: Expert list
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Marked gene: SIX3 as ready
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Gene: six3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.465 SIX3 Zornitza Stark Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, MIM#157170
Genetic Epilepsy v0.464 SIX3 Zornitza Stark Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.463 SIX3 Zornitza Stark Classified gene: SIX3 as Amber List (moderate evidence)
Genetic Epilepsy v0.463 SIX3 Zornitza Stark Gene: six3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.462 SIX3 Zornitza Stark reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, MIM#157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.462 SHH Zornitza Stark Marked gene: SHH as ready
Genetic Epilepsy v0.462 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.462 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Hypothalamic hamartoma
Genetic Epilepsy v0.461 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to Other
Genetic Epilepsy v0.460 SHH Zornitza Stark Tag somatic tag was added to gene: SHH.
Genetic Epilepsy v0.460 SHH Zornitza Stark reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothalamic hamartoma; Mode of inheritance: Other
Genetic Epilepsy v0.460 SGSH Zornitza Stark Marked gene: SGSH as ready
Genetic Epilepsy v0.460 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.460 SGSH Zornitza Stark Classified gene: SGSH as Green List (high evidence)
Genetic Epilepsy v0.460 SGSH Zornitza Stark Gene: sgsh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.459 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to 21061399; 30593151
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900
Review for gene: SGSH was set to GREEN
gene: SGSH was marked as current diagnostic
Added comment: Seizures reported in over half of affected individuals.
Sources: Expert list
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Marked gene: SETD1B as ready
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Gene: setd1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.458 SETD1B Zornitza Stark Publications for gene: SETD1B were set to
Genetic Epilepsy v0.457 SETD1B Zornitza Stark Phenotypes for gene: SETD1B were changed from to Epilepsy with myoclonic absences; intellectual disability
Genetic Epilepsy v0.456 SETD1B Zornitza Stark Mode of inheritance for gene: SETD1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.455 SETD1B Zornitza Stark reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29322246, 31440728, 31685013; Phenotypes: Epilepsy with myoclonic absences, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.455 SDHA Zornitza Stark Marked gene: SDHA as ready
Genetic Epilepsy v0.455 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.455 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from Leigh syndrome, MIM#256000 to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.454 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.454 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.453 SDHA Zornitza Stark Classified gene: SDHA as Amber List (moderate evidence)
Genetic Epilepsy v0.453 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.452 SDHA Zornitza Stark reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.452 RUSC2 Zornitza Stark reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27612186; Phenotypes: Mental retardation, autosomal recessive 61, MIM#617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.954 RALA Zornitza Stark Marked gene: RALA as ready
Mendeliome v0.954 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Mendeliome v0.954 RALA Zornitza Stark Classified gene: RALA as Green List (high evidence)
Mendeliome v0.954 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Mendeliome v0.953 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to Intellectual disability; Seizures
Review for gene: RALA was set to GREEN
gene: RALA was marked as current diagnostic
Added comment: 11 individuals from 10 unrelated families reported with this neurodevelopmental syndrome, half had seizures.
Sources: Expert list
Genetic Epilepsy v0.452 RALA Zornitza Stark Marked gene: RALA as ready
Genetic Epilepsy v0.452 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Genetic Epilepsy v0.452 RALA Zornitza Stark Classified gene: RALA as Green List (high evidence)
Genetic Epilepsy v0.452 RALA Zornitza Stark Gene: rala has been classified as Green List (High Evidence).
Genetic Epilepsy v0.451 RALA Zornitza Stark gene: RALA was added
gene: RALA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to Intellectual disability; Seizures
Review for gene: RALA was set to GREEN
Added comment: 11 individuals from 10 unrelated families reported with this neurodevelopmental syndrome, half had seizures.
Sources: Expert list
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.450 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225 to Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225
Genetic Epilepsy v0.449 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Martsolf syndrome, MIM#212720; Warburg micro syndrome 2, MIM#614225
Genetic Epilepsy v0.448 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.447 RAB3GAP2 Zornitza Stark Classified gene: RAB3GAP2 as Amber List (moderate evidence)
Genetic Epilepsy v0.447 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.446 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Martsolf syndrome, MIM#212720, Warburg micro syndrome 2, MIM#614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.446 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM#600118
Genetic Epilepsy v0.445 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Genetic Epilepsy v0.445 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.444 RAB3GAP1 Zornitza Stark Classified gene: RAB3GAP1 as Amber List (moderate evidence)
Genetic Epilepsy v0.444 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.443 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20512159; Phenotypes: Warburg micro syndrome 1, MIM#600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.443 QDPR Zornitza Stark Marked gene: QDPR as ready
Genetic Epilepsy v0.443 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.443 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM#261630
Genetic Epilepsy v0.442 QDPR Zornitza Stark Publications for gene: QDPR were set to
Genetic Epilepsy v0.441 QDPR Zornitza Stark Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.440 QDPR Zornitza Stark reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 26006720; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM#261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.440 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from Pancreatic and cerebellar agenesis, MIM#609069 to Pancreatic and cerebellar agenesis, MIM#609069
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Gene: ptf1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, MIM#609069
Genetic Epilepsy v0.439 PTF1A Zornitza Stark Publications for gene: PTF1A were set to
Genetic Epilepsy v0.438 PTF1A Zornitza Stark Mode of inheritance for gene: PTF1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.437 PTF1A Zornitza Stark Classified gene: PTF1A as Amber List (moderate evidence)
Genetic Epilepsy v0.437 PTF1A Zornitza Stark Gene: ptf1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.436 PTF1A Zornitza Stark reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 21749365, 15543146, 19650412; Phenotypes: Pancreatic and cerebellar agenesis, MIM#609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.436 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from Cowden syndrome 1, MIM#158350 to Cowden syndrome 1, MIM#158350
Genetic Epilepsy v0.435 PTEN Zornitza Stark Marked gene: PTEN as ready
Genetic Epilepsy v0.435 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Genetic Epilepsy v0.435 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM#158350
Genetic Epilepsy v0.435 PTEN Zornitza Stark Publications for gene: PTEN were set to 9832032; 29033429; 29444762
Genetic Epilepsy v0.434 PTEN Zornitza Stark Publications for gene: PTEN were set to
Genetic Epilepsy v0.434 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.433 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 9832032, 29033429, 29444762; Phenotypes: Cowden syndrome 1, MIM#158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.433 PSPH Zornitza Stark Marked gene: PSPH as ready
Genetic Epilepsy v0.433 PSPH Zornitza Stark Gene: psph has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.433 PSPH Zornitza Stark Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency, MIM#614023
Genetic Epilepsy v0.432 PSPH Zornitza Stark Publications for gene: PSPH were set to
Genetic Epilepsy v0.431 PSPH Zornitza Stark Mode of inheritance for gene: PSPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.430 PSPH Zornitza Stark Classified gene: PSPH as Amber List (moderate evidence)
Genetic Epilepsy v0.430 PSPH Zornitza Stark Gene: psph has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.429 PSPH Zornitza Stark reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 25080166, 26589312, 14673469; Phenotypes: Phosphoserine phosphatase deficiency, MIM#614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.429 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from Phosphoserine aminotransferase deficiency, MIM#610992 to Phosphoserine aminotransferase deficiency, MIM#610992
Genetic Epilepsy v0.428 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency, MIM#610992
Genetic Epilepsy v0.427 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to
Genetic Epilepsy v0.426 PSAT1 Zornitza Stark Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.425 PSAT1 Zornitza Stark Classified gene: PSAT1 as Amber List (moderate evidence)
Genetic Epilepsy v0.425 PSAT1 Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.424 PSAT1 Zornitza Stark reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17436247, 26610677, 26960553; Phenotypes: Phosphoserine aminotransferase deficiency, MIM#610992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Classified gene: PPP2CA as Green List (high evidence)
Genetic Epilepsy v0.424 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.423 PPP2CA Zornitza Stark gene: PPP2CA was added
gene: PPP2CA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, MIM#618354
Review for gene: PPP2CA was set to GREEN
gene: PPP2CA was marked as current diagnostic
Added comment: 16 individuals with heterozygous pathogenic PPP2CA variants. Frequent features included feeding difficulties, hypotonia, developmental delay (16/16) with intellectual disability. Seizures are seen in 9 of 16 individuals.
Sources: Expert list
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.422 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150
Genetic Epilepsy v0.421 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150
Genetic Epilepsy v0.421 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.420 POMT2 Zornitza Stark Classified gene: POMT2 as Amber List (moderate evidence)
Genetic Epilepsy v0.420 POMT2 Zornitza Stark Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.419 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501
Genetic Epilepsy v0.419 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501
Genetic Epilepsy v0.418 PIK3CA Zornitza Stark Mode of pathogenicity for gene: PIK3CA was changed from to Other
Genetic Epilepsy v0.417 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.416 PIK3CA Zornitza Stark Tag somatic tag was added to gene: PIK3CA.
Genetic Epilepsy v0.416 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Marked gene: PDSS2 as ready
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.416 PDSS2 Zornitza Stark Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3, MIM#614652
Genetic Epilepsy v0.415 PDSS2 Zornitza Stark Publications for gene: PDSS2 were set to
Genetic Epilepsy v0.414 PDSS2 Zornitza Stark Classified gene: PDSS2 as Amber List (moderate evidence)
Genetic Epilepsy v0.414 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.413 PDSS2 Zornitza Stark reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17186472, 29032433; Phenotypes: Coenzyme Q10 deficiency, primary, 3, MIM#614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Marked gene: PAK1 as ready
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Classified gene: PAK1 as Green List (high evidence)
Genetic Epilepsy v0.413 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.412 PAK1 Zornitza Stark gene: PAK1 was added
gene: PAK1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 30290153; 31504246
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
Review for gene: PAK1 was set to GREEN
gene: PAK1 was marked as current diagnostic
Added comment: Six unrelated individuals with de novo variants int his gene reported.
Sources: Expert list
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Gene: otx2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.411 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5 610125
Genetic Epilepsy v0.410 OTX2 Zornitza Stark Publications for gene: OTX2 were set to
Genetic Epilepsy v0.409 OTX2 Zornitza Stark Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.408 OTX2 Zornitza Stark Classified gene: OTX2 as Amber List (moderate evidence)
Genetic Epilepsy v0.408 OTX2 Zornitza Stark Gene: otx2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.407 OTX2 Zornitza Stark reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19965921, 15846561; Phenotypes: Microphthalmia, syndromic 5 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Gene: nubpl has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.407 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.406 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Genetic Epilepsy v0.405 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.404 NUBPL Zornitza Stark Classified gene: NUBPL as Amber List (moderate evidence)
Genetic Epilepsy v0.404 NUBPL Zornitza Stark Gene: nubpl has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.403 NUBPL Zornitza Stark reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: None; Publications: 23553477, 20818383; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Marked gene: NEDD4L as ready
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Gene: nedd4l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.403 NEDD4L Zornitza Stark Phenotypes for gene: NEDD4L were changed from to Periventricular nodular heterotopia 7, MIM#617201
Genetic Epilepsy v0.402 NEDD4L Zornitza Stark Publications for gene: NEDD4L were set to
Genetic Epilepsy v0.401 NEDD4L Zornitza Stark Mode of inheritance for gene: NEDD4L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.400 NEDD4L Zornitza Stark reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28515470, 23934111, 28212375, 27694961; Phenotypes: Periventricular nodular heterotopia 7, MIM#617201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.400 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from to Leigh syndrome, MIM#256000
Genetic Epilepsy v0.399 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Genetic Epilepsy v0.398 NDUFS7 Zornitza Stark Mode of inheritance for gene: NDUFS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.397 NDUFS7 Zornitza Stark Classified gene: NDUFS7 as Amber List (moderate evidence)
Genetic Epilepsy v0.397 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.396 NDUFS7 Zornitza Stark reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: None; Publications: 17604671, 17275378, 15269216; Phenotypes: Leigh syndrome, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.396 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.395 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Genetic Epilepsy v0.394 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.393 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Amber List (moderate evidence)
Genetic Epilepsy v0.393 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.392 NDUFS6 Zornitza Stark reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 15372108, 19259137, 27290639; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.392 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.391 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.390 NDUFS1 Zornitza Stark Classified gene: NDUFS1 as Amber List (moderate evidence)
Genetic Epilepsy v0.390 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.389 NDUFS1 Zornitza Stark reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.389 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.388 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Genetic Epilepsy v0.387 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.386 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Genetic Epilepsy v0.386 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.385 NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 28853723, 19463981; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.385 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Classified gene: NDUFAF3 as Amber List (moderate evidence)
Genetic Epilepsy v0.384 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.383 NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Marked gene: MYO3A as ready
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Gene: myo3a has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.235 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101 to Deafness, autosomal recessive 30, MIM# 607101
Deafness_IsolatedAndComplex v0.234 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from to Deafness, autosomal recessive 30, MIM# 607101
Deafness_IsolatedAndComplex v0.233 MYO3A Zornitza Stark Publications for gene: MYO3A were set to
Deafness_IsolatedAndComplex v0.232 MYO3A Zornitza Stark Mode of inheritance for gene: MYO3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.231 ESRP1 Zornitza Stark Marked gene: ESRP1 as ready
Deafness_IsolatedAndComplex v0.231 ESRP1 Zornitza Stark Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.231 GRAP Zornitza Stark Marked gene: GRAP as ready
Deafness_IsolatedAndComplex v0.231 GRAP Zornitza Stark Gene: grap has been classified as Red List (Low Evidence).
Corneal Dystrophy v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Genetic Epilepsy v0.383 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, MIM#252010 to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, MIM#252010
Genetic Epilepsy v0.382 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Genetic Epilepsy v0.381 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.380 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Amber List (moderate evidence)
Genetic Epilepsy v0.380 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.379 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23266820, 22036843, 20819849; Phenotypes: Mitochondrial complex I deficiency, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Marked gene: NDUFA6 as ready
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.379 NDUFA6 Zornitza Stark Phenotypes for gene: NDUFA6 were changed from Mitochondrial complex I deficiency, nuclear type 33, MIM#618253 to Mitochondrial complex I deficiency, nuclear type 33, MIM#618253
Genetic Epilepsy v0.378 NDUFA6 Zornitza Stark Phenotypes for gene: NDUFA6 were changed from to Mitochondrial complex I deficiency, nuclear type 33, MIM#618253
Genetic Epilepsy v0.377 NDUFA6 Zornitza Stark Publications for gene: NDUFA6 were set to
Genetic Epilepsy v0.376 NDUFA6 Zornitza Stark Mode of inheritance for gene: NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.375 NDUFA6 Zornitza Stark Classified gene: NDUFA6 as Red List (low evidence)
Genetic Epilepsy v0.375 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.374 NDUFA6 Zornitza Stark reviewed gene: NDUFA6: Rating: RED; Mode of pathogenicity: None; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, MIM#618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.374 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.373 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Genetic Epilepsy v0.372 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.371 NDUFA2 Zornitza Stark Classified gene: NDUFA2 as Amber List (moderate evidence)
Genetic Epilepsy v0.371 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.370 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28857146, 18513682; Phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.370 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.369 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Genetic Epilepsy v0.369 NDP Zornitza Stark Marked gene: NDP as ready
Genetic Epilepsy v0.369 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.369 NDP Zornitza Stark Phenotypes for gene: NDP were changed from Norrie disease, MIM#310600 to Norrie disease, MIM#310600
Genetic Epilepsy v0.369 NDP Zornitza Stark Phenotypes for gene: NDP were changed from to Norrie disease, MIM#310600
Genetic Epilepsy v0.369 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Genetic Epilepsy v0.368 NDP Zornitza Stark Publications for gene: NDP were set to
Genetic Epilepsy v0.368 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Red List (low evidence)
Genetic Epilepsy v0.368 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.367 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.367 NDP Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.366 NDP Zornitza Stark Classified gene: NDP as Red List (low evidence)
Genetic Epilepsy v0.366 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.365 NDP Zornitza Stark reviewed gene: NDP: Rating: RED; Mode of pathogenicity: None; Publications: 17334993; Phenotypes: Norrie disease, MIM#310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Marked gene: NBEA as ready
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1676 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1675 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder.
Sources: Expert list
Mendeliome v0.952 NBEA Zornitza Stark Marked gene: NBEA as ready
Mendeliome v0.952 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Mendeliome v0.952 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Mendeliome v0.952 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Mendeliome v0.951 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder
Sources: Expert list
Genetic Epilepsy v0.365 NBEA Zornitza Stark Marked gene: NBEA as ready
Genetic Epilepsy v0.365 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Genetic Epilepsy v0.365 NBEA Zornitza Stark Classified gene: NBEA as Green List (high evidence)
Genetic Epilepsy v0.365 NBEA Zornitza Stark Gene: nbea has been classified as Green List (High Evidence).
Genetic Epilepsy v0.364 NBEA Zornitza Stark gene: NBEA was added
gene: NBEA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Intellectual disability; Seizures
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: 24 de novo variants reported in individuals with a neurodevelopmental disorder, more than half had epilepsy.
Sources: Expert list
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Gene: naa10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.363 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800
Genetic Epilepsy v0.362 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Genetic Epilepsy v0.361 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.360 NAA10 Zornitza Stark Classified gene: NAA10 as Red List (low evidence)
Genetic Epilepsy v0.360 NAA10 Zornitza Stark Gene: naa10 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.359 NAA10 Zornitza Stark reviewed gene: NAA10: Rating: RED; Mode of pathogenicity: None; Publications: 11426460; Phenotypes: Microphthalmia, syndromic 1 309800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.359 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940 to Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940
Genetic Epilepsy v0.358 MTR Zornitza Stark Marked gene: MTR as ready
Genetic Epilepsy v0.358 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.358 MTR Zornitza Stark Phenotypes for gene: MTR were changed from to Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940
Genetic Epilepsy v0.358 MTR Zornitza Stark Publications for gene: MTR were set to
Genetic Epilepsy v0.357 MTR Zornitza Stark Mode of inheritance for gene: MTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.356 MTR Zornitza Stark Deleted their comment
Genetic Epilepsy v0.356 MTR Zornitza Stark commented on gene: MTR: Seizures are part of the phenotype of this metabolic disorder.
Genetic Epilepsy v0.356 MTR Zornitza Stark reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25526710, 9683607, 28666289; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Classified gene: MFSD8 as Green List (high evidence)
Genetic Epilepsy v0.356 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.355 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFSD8 were set to 30249282; 30144815; 30301600; 28586915
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951
Review for gene: MFSD8 was set to GREEN
gene: MFSD8 was marked as current diagnostic
Added comment: Seizures are a common feature of this neurodegenerative disorder.
Sources: Expert list
Genetic Epilepsy v0.354 MANBA Zornitza Stark Marked gene: MANBA as ready
Genetic Epilepsy v0.354 MANBA Zornitza Stark Gene: manba has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.354 MANBA Zornitza Stark Publications for gene: MANBA were set to 12468273; 22369051
Genetic Epilepsy v0.354 MANBA Zornitza Stark Publications for gene: MANBA were set to 12468273; 22369051
Genetic Epilepsy v0.353 MANBA Zornitza Stark Publications for gene: MANBA were set to
Genetic Epilepsy v0.352 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM#248510
Genetic Epilepsy v0.351 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.350 MANBA Zornitza Stark Classified gene: MANBA as Amber List (moderate evidence)
Genetic Epilepsy v0.350 MANBA Zornitza Stark Gene: manba has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.349 MANBA Zornitza Stark reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 12468273, 22369051; Phenotypes: Mannosidosis, beta, MIM#248510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1674 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1673 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo, likely GoF variants in this gene.
Sources: Expert list
Mendeliome v0.950 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Mendeliome v0.950 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Mendeliome v0.949 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.17 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.16 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.16 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.15 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene, seizures a consistent feature.
Sources: Expert list
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Genetic Epilepsy v0.349 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.7 PRKN Michelle Torres reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16476817, PMID: 14519684; Phenotypes: Parkinson disease, juvenile, type 2 600116 AR, Adenocarcinoma of lung, somatic 211980, Ovarian cancer, somatic 167000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.348 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM# 618325
Mode of pathogenicity for gene: MACF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MACF1 was set to GREEN
Added comment: Nine individuals (including a pair of twins) reported with de novo variants in this gene, seizures a consistent feature.
Sources: Expert list
Genetic Epilepsy v0.347 LYST Zornitza Stark Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, MIM#214500 to Chediak-Higashi syndrome, MIM#214500
Genetic Epilepsy v0.346 LYST Zornitza Stark Marked gene: LYST as ready
Genetic Epilepsy v0.346 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.346 LYST Zornitza Stark Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM#214500
Genetic Epilepsy v0.346 LYST Zornitza Stark Publications for gene: LYST were set to
Genetic Epilepsy v0.345 LYST Zornitza Stark Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.344 LYST Zornitza Stark Classified gene: LYST as Amber List (moderate evidence)
Genetic Epilepsy v0.344 LYST Zornitza Stark Gene: lyst has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.343 LYST Zornitza Stark reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: 10450360; Phenotypes: Chediak-Higashi syndrome, MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.343 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Genetic Epilepsy v0.343 LNPK Zornitza Stark Marked gene: LNPK as ready
Genetic Epilepsy v0.343 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.343 LNPK Zornitza Stark Publications for gene: LNPK were set to 30032983
Genetic Epilepsy v0.342 LNPK Zornitza Stark Phenotypes for gene: LNPK were changed from to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090
Genetic Epilepsy v0.342 LNPK Zornitza Stark Publications for gene: LNPK were set to
Genetic Epilepsy v0.342 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Classified gene: SOX18 as Red List (low evidence)
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.60 SOX18 Bryony Thompson Gene: sox18 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.341 LNPK Zornitza Stark Classified gene: LNPK as Amber List (moderate evidence)
Genetic Epilepsy v0.341 LNPK Zornitza Stark Gene: lnpk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.340 LNPK Zornitza Stark Mode of inheritance for gene: LNPK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.339 LNPK Zornitza Stark reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Classified gene: BMPR1B as Red List (low evidence)
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.59 BMPR1B Bryony Thompson Gene: bmpr1b has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Classified gene: TBX4 as Red List (low evidence)
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.58 TBX4 Bryony Thompson Gene: tbx4 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1672 Zornitza Stark removed gene:LNP1 from the panel
Genetic Epilepsy v0.339 Zornitza Stark removed gene:LNP1 from the panel
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Marked gene: LIPT2 as ready
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Green List (High Evidence).
Mendeliome v0.948 Zornitza Stark removed gene:LNP1 from the panel
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Classified gene: SOX17 as Red List (low evidence)
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.57 SOX17 Bryony Thompson Gene: sox17 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Classified gene: SMAD9 as Red List (low evidence)
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Added comment: Comment on list classification: Moved to the pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.56 SMAD9 Bryony Thompson Gene: smad9 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.338 LIPT2 Zornitza Stark Phenotypes for gene: LIPT2 were changed from Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Genetic Epilepsy v0.337 LIPT2 Zornitza Stark Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Genetic Epilepsy v0.337 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Genetic Epilepsy v0.337 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.337 LIPT2 Zornitza Stark Publications for gene: LIPT2 were set to
Genetic Epilepsy v0.336 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840
Genetic Epilepsy v0.336 LIPT2 Zornitza Stark Mode of inheritance for gene: LIPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.335 LIPT2 Zornitza Stark reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28757203; Phenotypes: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.335 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.334 LARGE1 Zornitza Stark Classified gene: LARGE1 as Amber List (moderate evidence)
Genetic Epilepsy v0.334 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.333 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.333 KPTN Zornitza Stark Marked gene: KPTN as ready
Genetic Epilepsy v0.333 KPTN Zornitza Stark Gene: kptn has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.333 KPTN Zornitza Stark Phenotypes for gene: KPTN were changed from to Mental retardation, autosomal recessive 4, MIM#1615637
Genetic Epilepsy v0.332 KPTN Zornitza Stark Publications for gene: KPTN were set to
Genetic Epilepsy v0.331 KPTN Zornitza Stark Mode of inheritance for gene: KPTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Marked gene: PTPN14 as ready
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Classified gene: PTPN14 as Red List (low evidence)
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Added comment: Comment on list classification: No evidence for vascular malformations. The gene has been added to the lymphoedema panel.
Vascular Malformations_Germline v0.55 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.330 KPTN Zornitza Stark Classified gene: KPTN as Amber List (moderate evidence)
Genetic Epilepsy v0.330 KPTN Zornitza Stark Gene: kptn has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.329 KPTN Zornitza Stark reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 25847626, 24239382; Phenotypes: Mental retardation, autosomal recessive 4, MIM#1615637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.54 PTPN14 Bryony Thompson reviewed gene: PTPN14: Rating: RED; Mode of pathogenicity: None; Publications: 22233626, 29932521; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vascular Malformations_Germline v0.54 PTPN14 Bryony Thompson Deleted their review
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Classified gene: PIEZO1 as Red List (low evidence)
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.54 PIEZO1 Bryony Thompson Gene: piezo1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Classified gene: KIF11 as Red List (low evidence)
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Added comment: Comment on list classification: On the lymphoedema panel instead
Vascular Malformations_Germline v0.53 KIF11 Bryony Thompson Gene: kif11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Classified gene: KCNK3 as Red List (low evidence)
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Added comment: Comment on list classification: Moved to the Pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.52 KCNK3 Bryony Thompson Gene: kcnk3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Classified gene: GJC2 as Red List (low evidence)
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.51 GJC2 Bryony Thompson Gene: gjc2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Classified gene: GATA2 as Red List (low evidence)
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.50 GATA2 Bryony Thompson Gene: gata2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Classified gene: FOXC2 as Red List (low evidence)
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.49 FOXC2 Bryony Thompson Gene: foxc2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Classified gene: FLT4 as Red List (low evidence)
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.48 FLT4 Bryony Thompson Gene: flt4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Classified gene: FAT4 as Red List (low evidence)
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.47 FAT4 Bryony Thompson Gene: fat4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Classified gene: EIF2AK4 as Red List (low evidence)
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.46 EIF2AK4 Bryony Thompson Gene: eif2ak4 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Classified gene: CCBE1 as Red List (low evidence)
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Added comment: Comment on list classification: On lymphoedema panel instead
Vascular Malformations_Germline v0.45 CCBE1 Bryony Thompson Gene: ccbe1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Classified gene: CAV1 as Red List (low evidence)
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.44 CAV1 Bryony Thompson Gene: cav1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Classified gene: BMPR2 as Red List (low evidence)
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.43 BMPR2 Bryony Thompson Gene: bmpr2 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Classified gene: ATP13A3 as Red List (low evidence)
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.42 ATP13A3 Bryony Thompson Gene: atp13a3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Classified gene: AQP1 as Red List (low evidence)
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Added comment: Comment on list classification: Moved to pulmonary arterial hypertension panel
Vascular Malformations_Germline v0.41 AQP1 Bryony Thompson Gene: aqp1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Marked gene: KMT2E as ready
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Classified gene: KMT2E as Green List (high evidence)
Genetic Epilepsy v0.329 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Genetic Epilepsy v0.328 KMT2E Zornitza Stark gene: KMT2E was added
gene: KMT2E was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2E were set to 31079897
Phenotypes for gene: KMT2E were set to Intellectual disability; Autism; Seizures
Review for gene: KMT2E was set to GREEN
gene: KMT2E was marked as current diagnostic
Added comment: Thirty individuals reported with this neurodevelopmental syndrome, substantial proportion had seizures.
Sources: Expert list
Genetic Epilepsy v0.327 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome, MIM# 609460 to Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Marked gene: KIF1BP as ready
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Publications for gene: KIF1BP were set to 28277559
Genetic Epilepsy v0.326 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from to Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Genetic Epilepsy v0.325 KIF1BP Zornitza Stark Publications for gene: KIF1BP were set to
Genetic Epilepsy v0.325 KIF1BP Zornitza Stark Mode of inheritance for gene: KIF1BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.324 KIF1BP Zornitza Stark Classified gene: KIF1BP as Amber List (moderate evidence)
Genetic Epilepsy v0.324 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.323 KIF1BP Zornitza Stark reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: None; Publications: 28277559; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM# 609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.947 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Mendeliome v0.947 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Mendeliome v0.947 KATNB1 Zornitza Stark Phenotypes for gene: KATNB1 were changed from to Lissencephaly 6, with microcephaly, MIM# 616212
Mendeliome v0.946 KATNB1 Zornitza Stark Publications for gene: KATNB1 were set to
Mendeliome v0.945 KATNB1 Zornitza Stark Mode of inheritance for gene: KATNB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.944 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Mendeliome v0.944 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Mendeliome v0.944 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495
Mendeliome v0.943 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to
Mendeliome v0.942 NLGN4X Zornitza Stark Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.941 NLGN4X Zornitza Stark Classified gene: NLGN4X as Red List (low evidence)
Mendeliome v0.941 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Mendeliome v0.940 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1671 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from to Mental retardation, X-linked, MIM# 300495
Intellectual disability syndromic and non-syndromic v0.1670 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to
Hydrops fetalis v0.108 HNRNPK Zornitza Stark Phenotypes for gene: HNRNPK were changed from to Au-Kline syndrome, MIM# 616580
Intellectual disability syndromic and non-syndromic v0.1669 NLGN4X Zornitza Stark Mode of inheritance for gene: NLGN4X was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.1668 NLGN4X Zornitza Stark Classified gene: NLGN4X as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1668 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1667 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Mental retardation, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.107 HNRNPK Sue White Classified gene: HNRNPK as Green List (high evidence)
Hydrops fetalis v0.107 HNRNPK Sue White Gene: hnrnpk has been classified as Green List (High Evidence).
Hydrops fetalis v0.106 HNRNPK Sue White edited their review of gene: HNRNPK: Set current diagnostic: yes
Hydrops fetalis v0.106 HNRNPK Sue White gene: HNRNPK was added
gene: HNRNPK was added to Hydrops fetalis. Sources: Other
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Penetrance for gene: HNRNPK were set to Complete
Review for gene: HNRNPK was set to GREEN
Added comment: case presentation of patient and literature review shows patients can present with hydrops
Sources: Other
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1667 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1666 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM# 616212
Review for gene: KATNB1 was set to GREEN
Added comment: At least 9 families reported with bi-allelic variants in this gene.
Sources: Expert list
Lissencephaly and Band Heterotopia v0.14 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.14 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.13 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM# 616212
Review for gene: KATNB1 was set to GREEN
Added comment: At least 9 families reported with bi-allelic variants in this gene.
Sources: Expert list
Genetic Epilepsy v0.323 ISPD Zornitza Stark Marked gene: ISPD as ready
Genetic Epilepsy v0.323 ISPD Zornitza Stark Gene: ispd has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.323 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643
Genetic Epilepsy v0.322 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643
Genetic Epilepsy v0.321 ISPD Zornitza Stark Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.320 ISPD Zornitza Stark Classified gene: ISPD as Amber List (moderate evidence)
Genetic Epilepsy v0.320 ISPD Zornitza Stark Gene: ispd has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.319 ISPD Zornitza Stark reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Marked gene: HPRT1 as ready
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.319 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome to Lesch-Nyhan syndrome
Genetic Epilepsy v0.318 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from to Lesch-Nyhan syndrome
Genetic Epilepsy v0.317 HPRT1 Zornitza Stark Publications for gene: HPRT1 were set to
Genetic Epilepsy v0.316 HPRT1 Zornitza Stark Mode of inheritance for gene: HPRT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.315 HPRT1 Zornitza Stark Classified gene: HPRT1 as Amber List (moderate evidence)
Genetic Epilepsy v0.315 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.314 HPRT1 Zornitza Stark reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27858372; Phenotypes: Lesch-Nyhan syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.314 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from to Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536
Genetic Epilepsy v0.313 HOXA1 Zornitza Stark Mode of inheritance for gene: HOXA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.312 HOXA1 Zornitza Stark Classified gene: HOXA1 as Amber List (moderate evidence)
Genetic Epilepsy v0.312 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.311 HOXA1 Zornitza Stark reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.940 HNRNPR Zornitza Stark Marked gene: HNRNPR as ready
Mendeliome v0.940 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Mendeliome v0.940 HNRNPR Zornitza Stark Classified gene: HNRNPR as Green List (high evidence)
Mendeliome v0.940 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Mendeliome v0.939 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 26795593; 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures
Review for gene: HNRNPR was set to GREEN
gene: HNRNPR was marked as current diagnostic
Added comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder.
Sources: Expert list
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Marked gene: HNRNPR as ready
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Classified gene: HNRNPR as Green List (high evidence)
Genetic Epilepsy v0.311 HNRNPR Zornitza Stark Gene: hnrnpr has been classified as Green List (High Evidence).
Genetic Epilepsy v0.310 HNRNPR Zornitza Stark gene: HNRNPR was added
gene: HNRNPR was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 26795593; 31079900
Phenotypes for gene: HNRNPR were set to Intellectual disability; seizures
Review for gene: HNRNPR was set to GREEN
gene: HNRNPR was marked as current diagnostic
Added comment: Five unrelated individuals reported with de novo variants and a neurodevelopmental disorder.
Sources: Expert list
Genetic Epilepsy v0.309 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with febrile seizures plus; Other seizure disorders
Genetic Epilepsy v0.308 HCN2 Zornitza Stark Publications for gene: HCN2 were set to
Genetic Epilepsy v0.308 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from Linear skin defects with multiple congenital anomalies 1, 309801 to Linear skin defects with multiple congenital anomalies 1, 309801
Genetic Epilepsy v0.307 HCCS Zornitza Stark Marked gene: HCCS as ready
Genetic Epilepsy v0.307 HCCS Zornitza Stark Gene: hccs has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.307 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, 309801
Genetic Epilepsy v0.307 HCN2 Zornitza Stark Mode of inheritance for gene: HCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.306 HCCS Zornitza Stark Publications for gene: HCCS were set to
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from Combined oxidative phosphorylation deficiency 23, MIM#616198 to Combined oxidative phosphorylation deficiency 23, MIM#616198
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Genetic Epilepsy v0.306 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.306 HCCS Zornitza Stark Added comment: Comment on mode of inheritance: XLD
Genetic Epilepsy v0.306 HCCS Zornitza Stark Mode of inheritance for gene: HCCS was changed from Unknown to Other
Genetic Epilepsy v0.305 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198
Genetic Epilepsy v0.305 HCN2 Zornitza Stark Classified gene: HCN2 as Green List (high evidence)
Genetic Epilepsy v0.305 HCN2 Zornitza Stark Gene: hcn2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.304 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: Evidence for both mono-allelic and bi-allelic variants causing disease; also evidence for both GoF and LoF as mechanism.; Changed mode of pathogenicity: Other; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874; Changed phenotypes: Genetic epilepsy with febrile seizures plus, Other seizure disorders; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Genetic Epilepsy v0.304 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Genetic Epilepsy v0.304 HCCS Zornitza Stark Classified gene: HCCS as Amber List (moderate evidence)
Genetic Epilepsy v0.304 HCCS Zornitza Stark Gene: hccs has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.303 HCCS Zornitza Stark reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: None; Publications: 17033964; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801; Mode of inheritance: Other
Genetic Epilepsy v0.303 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.302 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.301 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23, MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Marked gene: GTPBP2 as ready
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Classified gene: GTPBP2 as Green List (high evidence)
Genetic Epilepsy v0.301 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.300 GSS Zornitza Stark Marked gene: GSS as ready
Genetic Epilepsy v0.300 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Genetic Epilepsy v0.300 GSS Zornitza Stark Phenotypes for gene: GSS were changed from to Glutathione synthetase deficiency, MIM# 266130
Genetic Epilepsy v0.300 GTPBP2 Zornitza Stark gene: GTPBP2 was added
gene: GTPBP2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 29449720
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988
Review for gene: GTPBP2 was set to GREEN
gene: GTPBP2 was marked as current diagnostic
Added comment: Four unrelated families with this neurodevelopmental syndrome, seizures are a feature.
Sources: Expert list
Genetic Epilepsy v0.299 GSS Zornitza Stark Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.298 GSS Zornitza Stark reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.7 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia (OMIM #604173) to Poikiloderma with neutropenia (OMIM #604173)
Phagocyte Defects v0.7 USB1 Zornitza Stark Marked gene: USB1 as ready
Phagocyte Defects v0.7 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.7 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropenia (OMIM #604173)
Phagocyte Defects v0.6 USB1 Zornitza Stark Publications for gene: USB1 were set to
Phagocyte Defects v0.6 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.938 USB1 Zornitza Stark Marked gene: USB1 as ready
Mendeliome v0.938 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Mendeliome v0.938 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropenia (OMIM #604173)
Mendeliome v0.937 USB1 Zornitza Stark Publications for gene: USB1 were set to
Mendeliome v0.936 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.105 LCAT Zornitza Stark Marked gene: LCAT as ready
Proteinuria v0.105 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Mendeliome v0.935 USB1 Ain Roesley reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25044170, 27612988; Phenotypes: Poikiloderma with neutropenia (OMIM #604173); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.105 LCAT Zornitza Stark Classified gene: LCAT as Green List (high evidence)
Proteinuria v0.105 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Proteinuria v0.104 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Proteinuria. Sources: Expert list
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, MIM# 245900
Review for gene: LCAT was set to GREEN
gene: LCAT was marked as current diagnostic
Added comment: Disorder of lipoprotein metabolism presents with a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.
Sources: Expert list
Pulmonary Arterial Hypertension v0.20 TBX4 Bryony Thompson Classified gene: TBX4 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.20 TBX4 Bryony Thompson Gene: tbx4 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.19 TBX4 Bryony Thompson gene: TBX4 was added
gene: TBX4 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891
Review for gene: TBX4 was set to GREEN
Added comment: Pulmonary arterial hypertension can be a feature of the condition caused by this gene.
Sources: Expert list
Proteinuria v0.103 GLA Zornitza Stark Marked gene: GLA as ready
Proteinuria v0.103 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.18 SOX17 Bryony Thompson gene: SOX17 was added
gene: SOX17 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3 MIM#613674
Proteinuria v0.103 GLA Zornitza Stark Classified gene: GLA as Green List (high evidence)
Proteinuria v0.103 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.17 SMAD9 Bryony Thompson Classified gene: SMAD9 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.17 SMAD9 Bryony Thompson Gene: smad9 has been classified as Green List (High Evidence).
Proteinuria v0.102 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Proteinuria. Sources: Expert list
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GLA were set to 18033242
Phenotypes for gene: GLA were set to Fairy disease, MIM# 301500
Review for gene: GLA was set to GREEN
Added comment: Glomerular disease and proteinuria well documented manifestations of Fabry.
Sources: Expert list
Pulmonary Arterial Hypertension v0.16 SMAD9 Bryony Thompson gene: SMAD9 was added
gene: SMAD9 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2 MIM#615342
Review for gene: SMAD9 was set to GREEN
Added comment: Pulmonary arterial hypertension is the main feature of the condition caused by this gene.
Sources: Expert list
Pulmonary Arterial Hypertension v0.15 KCNK3 Bryony Thompson Classified gene: KCNK3 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.15 KCNK3 Bryony Thompson Gene: kcnk3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.14 KCNK3 Bryony Thompson gene: KCNK3 was added
gene: KCNK3 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNK3 were set to Pulmonary hypertension, primary, 4 MIM#615344
Review for gene: KCNK3 was set to GREEN
Added comment: Pulmonary arterial hypertension is the main feature of the condition caused by this gene.
Sources: Expert list
Pulmonary Arterial Hypertension v0.13 GDF2 Bryony Thompson gene: GDF2 was added
gene: GDF2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506
Pulmonary Arterial Hypertension v0.12 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
Pulmonary Arterial Hypertension v0.11 EIF2AK4 Bryony Thompson Classified gene: EIF2AK4 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.11 EIF2AK4 Bryony Thompson Gene: eif2ak4 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.10 EIF2AK4 Bryony Thompson gene: EIF2AK4 was added
gene: EIF2AK4 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2 MIM#234810
Review for gene: EIF2AK4 was set to GREEN
Added comment: Pulmonary hypertension is a feature of the condition
Sources: Expert list
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Classified gene: CAV1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Added comment: Comment on list classification: Heterozygous variants cause PAH
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Gene: cav1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.8 CAV1 Bryony Thompson gene: CAV1 was added
gene: CAV1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3 MIM#615343
Review for gene: CAV1 was set to GREEN
Added comment: Sources: Expert list
Pulmonary Arterial Hypertension v0.7 BMPR2 Bryony Thompson Classified gene: BMPR2 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.7 BMPR2 Bryony Thompson Gene: bmpr2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.6 BMPR2 Bryony Thompson gene: BMPR2 was added
gene: BMPR2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Pulmonary venoocclusive disease 1 MIM#265450
Review for gene: BMPR2 was set to GREEN
Added comment: PAH is the major feature.
Sources: Expert list
Pulmonary Arterial Hypertension v0.5 BMPR1B Bryony Thompson gene: BMPR1B was added
gene: BMPR1B was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: BMPR1B was set to Unknown
Phenotypes for gene: BMPR1B were set to Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.4 ATP13A3 Bryony Thompson gene: ATP13A3 was added
gene: ATP13A3 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ATP13A3 was set to Unknown
Pulmonary Arterial Hypertension v0.3 AQP1 Bryony Thompson gene: AQP1 was added
gene: AQP1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AQP1 were set to Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.2 ACVRL1 Bryony Thompson Classified gene: ACVRL1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.2 ACVRL1 Bryony Thompson Gene: acvrl1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.1 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Review for gene: ACVRL1 was set to GREEN
Added comment: Pulmonary arterial hypertension can be a feature of the condition.
Sources: Expert list
Pulmonary Arterial Hypertension v0.0 Bryony Thompson Added Panel Pulmonary Arterial Hypertension
Set panel types to: Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Gene: cep164 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Classified gene: CEP164 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Gene: cep164 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.20 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Bardet Biedl syndrome. Sources: Expert list
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Nephronophthisis 15, MIM# 614845
Review for gene: CEP164 was set to AMBER
gene: CEP164 was marked as current diagnostic
Added comment: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype.
Sources: Expert list
Mendeliome v0.935 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Mendeliome v0.935 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Mendeliome v0.935 GNB5 Zornitza Stark Phenotypes for gene: GNB5 were changed from to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Mendeliome v0.934 GNB5 Zornitza Stark Publications for gene: GNB5 were set to
Mendeliome v0.933 GNB5 Zornitza Stark Mode of inheritance for gene: GNB5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Classified gene: GNB5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1665 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1664 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Review for gene: GNB5 was set to GREEN
gene: GNB5 was marked as current diagnostic
Added comment: Multiple affected individuals reported.
Sources: Expert list
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Classified gene: GNB5 as Green List (high evidence)
Genetic Epilepsy v0.298 GNB5 Zornitza Stark Gene: gnb5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.297 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599; 27677260; 28697420; 29368331
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Review for gene: GNB5 was set to GREEN
gene: GNB5 was marked as current diagnostic
Added comment: Epilepsy is a reported feature in a number of individuals.
Sources: Expert list
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Marked gene: GLYCTK as ready
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Gene: glyctk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Phenotypes for gene: GLYCTK were changed from to D-glyceric aciduria, MIM# 220120
Genetic Epilepsy v0.296 GLYCTK Zornitza Stark Publications for gene: GLYCTK were set to
Genetic Epilepsy v0.295 GLYCTK Zornitza Stark Mode of inheritance for gene: GLYCTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.294 GLYCTK Zornitza Stark reviewed gene: GLYCTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 3588091, 30637540, 28462797, 20949620, 28190537; Phenotypes: D-glyceric aciduria, MIM# 220120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Marked gene: FUT8 as ready
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Classified gene: FUT8 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.13 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Review for gene: FUT8 was set to GREEN
gene: FUT8 was marked as current diagnostic
Added comment: Three unrelated individuals reported.
Sources: Expert list
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Marked gene: FUT8 as ready
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Classified gene: FUT8 as Green List (high evidence)
Genetic Epilepsy v0.294 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.293 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Review for gene: FUT8 was set to GREEN
gene: FUT8 was marked as current diagnostic
Added comment: Three unrelated individuals, all had seizures as part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.292 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to 20858599; 20818383; 31434271
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to 20858599, 20818383; 31434271
Genetic Epilepsy v0.291 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.290 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.290 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Genetic Epilepsy v0.289 FOXRED1 Zornitza Stark Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.288 FOXRED1 Zornitza Stark reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20858599, 20818383, 31434271; Phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.288 FKRP Zornitza Stark Marked gene: FKRP as ready
Genetic Epilepsy v0.288 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.288 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153
Genetic Epilepsy v0.287 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153
Genetic Epilepsy v0.286 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.285 FKRP Zornitza Stark Classified gene: FKRP as Amber List (moderate evidence)
Genetic Epilepsy v0.285 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.284 FKRP Zornitza Stark reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Gene: fig4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.284 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from Polymicrogyria, bilateral temporooccipital, MIM#612691 to Polymicrogyria, bilateral temporooccipital, MIM#612691
Genetic Epilepsy v0.283 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from to Polymicrogyria, bilateral temporooccipital, MIM#612691
Genetic Epilepsy v0.283 FIG4 Zornitza Stark Publications for gene: FIG4 were set to
Genetic Epilepsy v0.282 FIG4 Zornitza Stark Mode of inheritance for gene: FIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.281 FIG4 Zornitza Stark Classified gene: FIG4 as Red List (low evidence)
Genetic Epilepsy v0.281 FIG4 Zornitza Stark Gene: fig4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.280 FIG4 Zornitza Stark reviewed gene: FIG4: Rating: RED; Mode of pathogenicity: None; Publications: 24598713; Phenotypes: Polymicrogyria, bilateral temporooccipital, MIM#612691; Mode of inheritance: None
Genetic Epilepsy v0.280 FH Zornitza Stark Marked gene: FH as ready
Genetic Epilepsy v0.280 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.280 FH Zornitza Stark Phenotypes for gene: FH were changed from Fumarase deficiency, MIM#606812 to Fumarase deficiency, MIM#606812
Genetic Epilepsy v0.279 FH Zornitza Stark Phenotypes for gene: FH were changed from to Fumarase deficiency, MIM#606812
Genetic Epilepsy v0.279 FH Zornitza Stark Publications for gene: FH were set to 20301679; 10805328; 20549362; 15221078; 16151915
Genetic Epilepsy v0.278 FH Zornitza Stark Publications for gene: FH were set to
Genetic Epilepsy v0.278 FH Zornitza Stark Mode of inheritance for gene: FH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.277 FH Zornitza Stark reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301679, 10805328, 20549362, 15221078, 16151915; Phenotypes: Fumarase deficiency, MIM#606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.277 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, MIM#146000 to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.276 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, MIM#146000 to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.275 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from to Hypochondroplasia, MIM#146000
Genetic Epilepsy v0.274 FGFR3 Zornitza Stark Publications for gene: FGFR3 were set to
Genetic Epilepsy v0.273 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.272 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24630288, 27485793, 23649205, 12794698; Phenotypes: Hypochondroplasia, MIM#146000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Marked gene: FDFT1 as ready
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families, functional data; seizures were a presenting feature.
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Phenotypes for gene: FDFT1 were changed from to Squalene synthase deficiency, MIM# 618156
Genetic Epilepsy v0.272 FDFT1 Zornitza Stark Publications for gene: FDFT1 were set to
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Mode of inheritance for gene: FDFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Classified gene: FDFT1 as Green List (high evidence)
Genetic Epilepsy v0.271 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.270 FDFT1 Zornitza Stark reviewed gene: FDFT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: Squalene synthase deficiency, MIM# 618156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Classified gene: FBXO11 as Green List (high evidence)
Genetic Epilepsy v0.270 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.269 FBXO11 Zornitza Stark gene: FBXO11 was added
gene: FBXO11 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO11 were set to 30057029; 29796876
Phenotypes for gene: FBXO11 were set to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089
Review for gene: FBXO11 was set to GREEN
gene: FBXO11 was marked as current diagnostic
Added comment: Seizures are a feature of ~25% of reported individuals with this condition.
Sources: Expert list
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Marked gene: FASTKD2 as ready
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.268 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Genetic Epilepsy v0.267 FASTKD2 Zornitza Stark Publications for gene: FASTKD2 were set to
Genetic Epilepsy v0.266 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.265 FASTKD2 Zornitza Stark Classified gene: FASTKD2 as Amber List (moderate evidence)
Genetic Epilepsy v0.265 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.264 FASTKD2 Zornitza Stark reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18771761, 28499982; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.932 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Mendeliome v0.932 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.932 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Mendeliome v0.931 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Intellectual disability syndromic and non-syndromic v0.1663 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Mendeliome v0.930 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1662 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.929 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Mendeliome v0.929 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1661 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.928 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1660 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1660 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.264 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Intellectual disability syndromic and non-syndromic v0.1659 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.263 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.262 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Genetic Epilepsy v0.261 FAR1 Zornitza Stark Classified gene: FAR1 as Amber List (moderate evidence)
Genetic Epilepsy v0.261 FAR1 Zornitza Stark Gene: far1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.260 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Marked gene: EIF3F as ready
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Classified gene: EIF3F as Green List (high evidence)
Genetic Epilepsy v0.260 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.259 EIF3F Zornitza Stark gene: EIF3F was added
gene: EIF3F was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Mental retardation, autosomal recessive 67, MIM# 618295
Review for gene: EIF3F was set to GREEN
gene: EIF3F was marked as current diagnostic
Added comment: 9 patients with intellectual disability from 7 nonconsang families of European ancestry - all hom for the same mutation in EIF3 (Phe232Val); 6/9 had seizures. This variant is one of the most common protein altering variants in the gene and is present at an allele freq of 0.12% but never hom in Non-Finnish Europeans in gnomAD. Functional studies also done on this variant.
Sources: Expert list
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Classified gene: EFTUD2 as Green List (high evidence)
Genetic Epilepsy v0.258 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.257 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFTUD2 were set to 22305528; 19334086
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type, MIM#610536
Review for gene: EFTUD2 was set to GREEN
Added comment: Approximately a third of affected individuals are reported as having seizures.
Sources: Expert list
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.928 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Mendeliome v0.928 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.256 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Mendeliome v0.928 EFHC1 Zornitza Stark Phenotypes for gene: EFHC1 were changed from to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to 31056551; 28370826; 29750216
Mendeliome v0.927 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Publications for gene: EFHC1 were set to
Genetic Epilepsy v0.255 EFHC1 Zornitza Stark Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.926 EFHC1 Zornitza Stark Mode of inheritance for gene: EFHC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.925 EFHC1 Zornitza Stark Classified gene: EFHC1 as Amber List (moderate evidence)
Mendeliome v0.925 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.254 EFHC1 Zornitza Stark Classified gene: EFHC1 as Amber List (moderate evidence)
Genetic Epilepsy v0.254 EFHC1 Zornitza Stark Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.253 EFHC1 Zornitza Stark reviewed gene: EFHC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31056551, 28370826, 29750216; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 1}, 607631, {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Marked gene: DPM2 as ready
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from Congenital disorder of glycosylation, type Iu, MIM#615042 to Congenital disorder of glycosylation, type Iu, MIM#615042
Genetic Epilepsy v0.253 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM#615042
Genetic Epilepsy v0.252 DPM2 Zornitza Stark Publications for gene: DPM2 were set to
Genetic Epilepsy v0.252 DPM2 Zornitza Stark Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.251 DPM2 Zornitza Stark Classified gene: DPM2 as Amber List (moderate evidence)
Genetic Epilepsy v0.251 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.250 DPM2 Zornitza Stark reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM#615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.250 DOLK Zornitza Stark Marked gene: DOLK as ready
Genetic Epilepsy v0.250 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Genetic Epilepsy v0.250 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation type Im, 610768 to Congenital disorder of glycosylation type Im, 610768
Genetic Epilepsy v0.249 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to Congenital disorder of glycosylation type Im, 610768
Genetic Epilepsy v0.249 DOLK Zornitza Stark Publications for gene: DOLK were set to
Genetic Epilepsy v0.248 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.247 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23890587, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation type Im, 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Marked gene: DNAJC6 as ready
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.247 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19b, early-onset, MIM#615528 to Parkinson disease 19b, early-onset, MIM#615528
Genetic Epilepsy v0.246 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19b, early-onset, MIM#615528
Genetic Epilepsy v0.245 DNAJC6 Zornitza Stark Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.244 DNAJC6 Zornitza Stark Classified gene: DNAJC6 as Amber List (moderate evidence)
Genetic Epilepsy v0.244 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.243 DNAJC6 Zornitza Stark reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 19b, early-onset, MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.924 CEP89 Zornitza Stark Marked gene: CEP89 as ready
Mendeliome v0.924 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.924 CEP89 Zornitza Stark Phenotypes for gene: CEP89 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Mendeliome v0.923 CEP89 Zornitza Stark Mode of inheritance for gene: CEP89 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.922 CEP89 Zornitza Stark Publications for gene: CEP89 were set to
Mendeliome v0.921 CEP89 Zornitza Stark Classified gene: CEP89 as Amber List (moderate evidence)
Mendeliome v0.921 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.920 MAP4K4 Zornitza Stark Marked gene: MAP4K4 as ready
Mendeliome v0.920 MAP4K4 Zornitza Stark Gene: map4k4 has been classified as Red List (Low Evidence).
Mendeliome v0.920 MAP4K4 Zornitza Stark Classified gene: MAP4K4 as Red List (low evidence)
Mendeliome v0.920 MAP4K4 Zornitza Stark Gene: map4k4 has been classified as Red List (Low Evidence).
Mendeliome v0.919 MAP4K4 Zornitza Stark reviewed gene: MAP4K4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Marked gene: SMARCC2 as ready
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Classified gene: SMARCC2 as Green List (high evidence)
Genetic Epilepsy v0.243 SMARCC2 Zornitza Stark Gene: smarcc2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.242 SMARCC2 Zornitza Stark gene: SMARCC2 was added
gene: SMARCC2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features; seizures are part of the phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1659 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1658 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM# 618721
Review for gene: GOT2 was set to GREEN
Added comment: Four individuals from three unrelated families reported, EE/DD. Treatment with pyridoxine and serine ameliorated the phenotype.
Sources: Literature
Mendeliome v0.919 NAGA Zornitza Stark Marked gene: NAGA as ready
Mendeliome v0.919 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Mendeliome v0.919 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from to Kanzaki disease (MIM # 609242); Schindler disease, type I or III (MIM# 609241)
Mendeliome v0.918 NAGA Zornitza Stark Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.917 NAGA Zornitza Stark Publications for gene: NAGA were set to
Mendeliome v0.916 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Mendeliome v0.916 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.916 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Mendeliome v0.916 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.915 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Mendeliome v0.915 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.914 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to AMBER
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Mendeliome v0.913 RAB11B Zornitza Stark Deleted their review
Mendeliome v0.913 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: None; Publications: 29100083; Phenotypes: Intellectual disability, seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Classified gene: RAB11A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1657 RAB11A Zornitza Stark Gene: rab11a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1656 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to AMBER
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Mendeliome v0.913 NAGA Ain Roesley reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11313741, 31468281; Phenotypes: Kanzaki disease (MIM # 609242), Schindler disease, type I or III (MIM# 609241); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.241 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Genetic Epilepsy v0.241 RAB11A Zornitza Stark Gene: rab11a has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.241 RAB11A Zornitza Stark gene: RAB11A was added
gene: RAB11A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Intellectual disability; seizures
Review for gene: RAB11A was set to RED
Added comment: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, only one had seizures. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature
Mendeliome v0.913 DHPS Zornitza Stark Marked gene: DHPS as ready
Mendeliome v0.913 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Marked gene: DHPS as ready
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1655 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Mendeliome v0.913 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Mendeliome v0.913 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Mendeliome v0.912 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1654 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features
Sources: Expert list
Genetic Epilepsy v0.240 DHPS Zornitza Stark Marked gene: DHPS as ready
Genetic Epilepsy v0.240 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Genetic Epilepsy v0.240 DHPS Zornitza Stark Classified gene: DHPS as Green List (high evidence)
Genetic Epilepsy v0.240 DHPS Zornitza Stark Gene: dhps has been classified as Green List (High Evidence).
Genetic Epilepsy v0.239 DHPS Zornitza Stark gene: DHPS was added
gene: DHPS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480
Review for gene: DHPS was set to GREEN
gene: DHPS was marked as current diagnostic
Added comment: 5 individuals from 4 unrelated families with biallelic pathogenic variants in DHPS, note one variant is recurrent (c.518A>G or p.Asn173Ser). The phenotype consisted of DD/ID (5/5), tone abnormalities (hypotonia/hypertonia/spasticity - 5/5), seizures (5/5 - in one case though unclear staring spells) with EEG abnormalities (5/5). Additionally most individuals displayed behavioral issues, or some common facial features.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1653 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1652 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHDDS were set to 29100083
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836
Review for gene: DHDDS was set to GREEN
gene: DHDDS was marked as current diagnostic
Added comment: Five unrelated individuals reported with mono-allelic variants and a neurodevelopmental phenotype.
Sources: Expert list
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Genetic Epilepsy v0.238 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Genetic Epilepsy v0.237 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHDDS were set to 29100083; 27343064
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, MIM#617836; Congenital disorder of glycosylation, MIM#613861
Review for gene: DHDDS was set to GREEN
gene: DHDDS was marked as current diagnostic
Added comment: Five unrelated individuals with mono-allelic variants and a neurodevelopmental phenotype including seizures; one family with compound het variants and CDG phenotype, seizures a prominent feature of the clinical phenotype.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1651 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1650 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 31186544; 30620337; 30620338
Phenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
Added comment: Multiple affected families, DD/ID is part of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Marked gene: DEGS1 as ready
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Classified gene: DEGS1 as Green List (high evidence)
Genetic Epilepsy v0.236 DEGS1 Zornitza Stark Gene: degs1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.235 DEGS1 Zornitza Stark gene: DEGS1 was added
gene: DEGS1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 31186544; 30620337; 30620338
Phenotypes for gene: DEGS1 were set to Leukodystrophy hypomyelinating 18, MIM#618404
Review for gene: DEGS1 was set to GREEN
gene: DEGS1 was marked as current diagnostic
Added comment: Seizures are a prominent feature of the phenotype.
Sources: Expert list
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Marked gene: DEAF1 as ready
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.234 DEAF1 Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.233 DEAF1 Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Marked gene: DEAF1 as ready
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Classified gene: DEAF1 as Green List (high evidence)
Genetic Epilepsy v0.232 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.231 DEAF1 Zornitza Stark gene: DEAF1 was added
gene: DEAF1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DEAF1 were set to 30923367; 26048982; 28940898; 26834045
Phenotypes for gene: DEAF1 were set to Dyskinesia, seizures, and intellectual developmental disorder 617171; autosomal dominant mental retardation 24, MIM# 615828
Review for gene: DEAF1 was set to GREEN
gene: DEAF1 was marked as current diagnostic
Added comment: Seizures are reported in 70-80% individuals with both the mono-allelic and the bi-allelic DEAF1-related conditions.
Sources: Expert list
Mendeliome v0.911 RBFOX1 Zornitza Stark Marked gene: RBFOX1 as ready
Mendeliome v0.911 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Mendeliome v0.911 RBFOX1 Zornitza Stark Mode of inheritance for gene: RBFOX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.910 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from to Intellectual disability; autism
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to 24664471
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Marked gene: RBFOX1 as ready
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Mendeliome v0.909 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to
Intellectual disability syndromic and non-syndromic v0.1649 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from Intellectual disability; autism to Intellectual disability; autism
Mendeliome v0.908 RBFOX1 Zornitza Stark Classified gene: RBFOX1 as Red List (low evidence)
Mendeliome v0.908 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1648 RBFOX1 Zornitza Stark Phenotypes for gene: RBFOX1 were changed from to Intellectual disability; autism
Mendeliome v0.907 RBFOX1 Zornitza Stark reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: None; Publications: 24664471; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1648 RBFOX1 Zornitza Stark Publications for gene: RBFOX1 were set to
Intellectual disability syndromic and non-syndromic v0.1648 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from Congenital disorder of glycosylation, type Ir, MIM# 614507 to Congenital disorder of glycosylation, type Ir, MIM# 614507
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Mode of inheritance for gene: RBFOX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Marked gene: DDOST as ready
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1647 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Classified gene: RBFOX1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1647 RBFOX1 Zornitza Stark Gene: rbfox1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1646 RBFOX1 Zornitza Stark reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: None; Publications: 24664471; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1646 DDOST Zornitza Stark Publications for gene: DDOST were set to
Intellectual disability syndromic and non-syndromic v0.1645 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1644 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1644 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Mendeliome v0.907 DDOST Zornitza Stark Marked gene: DDOST as ready
Mendeliome v0.907 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1643 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.907 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Mendeliome v0.906 DDOST Zornitza Stark Publications for gene: DDOST were set to
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Marked gene: DDOST as ready
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Mendeliome v0.905 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.11 DDOST Zornitza Stark Publications for gene: DDOST were set to
Mendeliome v0.904 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Mendeliome v0.904 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Mendeliome v0.903 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.10 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.9 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.9 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.8 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.11 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Cataract v0.11 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Cataract v0.11 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Cataract v0.11 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.1 Bryony Thompson Panel name changed from Skeletal Muscle Channelopathies_RMH to Skeletal Muscle Channelopathies
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Cataract v0.10 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Cataract. Sources: Literature
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440
Review for gene: PIK3C2A was set to GREEN
gene: PIK3C2A was marked as current diagnostic
Added comment: Three unrelated consanguineous families reported with bi-allelic LoF variants. Cataracts are part of the phenotype.
Sources: Literature
Mendeliome v0.903 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Mendeliome v0.903 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Mendeliome v0.903 PIK3C2A Zornitza Stark Mode of inheritance for gene: PIK3C2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.902 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Mendeliome v0.902 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Mendeliome v0.901 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PIK3C2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440
Review for gene: PIK3C2A was set to GREEN
gene: PIK3C2A was marked as current diagnostic
Added comment: Three unrelated consanguineous families reported.
Sources: Expert list
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Marked gene: ADI1 as ready
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Gene: adi1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Classified gene: ADI1 as Red List (low evidence)
Skeletal dysplasia v0.8 ADI1 Zornitza Stark Gene: adi1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.7 ADI1 Zornitza Stark reviewed gene: ADI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.900 FGF16 Zornitza Stark Marked gene: FGF16 as ready
Mendeliome v0.900 FGF16 Zornitza Stark Gene: fgf16 has been classified as Green List (High Evidence).
Mendeliome v0.900 FGF16 Zornitza Stark Classified gene: FGF16 as Green List (high evidence)
Mendeliome v0.900 FGF16 Zornitza Stark Gene: fgf16 has been classified as Green List (High Evidence).
Mendeliome v0.899 FGF16 Zornitza Stark gene: FGF16 was added
gene: FGF16 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion, MIM# 309630
Review for gene: FGF16 was set to GREEN
gene: FGF16 was marked as current diagnostic
Added comment: Sources: Expert list
Autism v0.43 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Autism v0.43 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Autism v0.43 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Autism v0.43 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Autism v0.42 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.898 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Mendeliome v0.898 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Mendeliome v0.898 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Mendeliome v0.898 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Mendeliome v0.897 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Marked gene: NTNG1 as ready
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Classified gene: NTNG1 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1643 NTNG1 Zornitza Stark Gene: ntng1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1642 NTNG1 Zornitza Stark reviewed gene: NTNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.64 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Callosome v0.64 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.64 GAS1 Zornitza Stark Publications for gene: GAS1 were set to 21842183; 20583177
Callosome v0.63 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Callosome v0.62 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Callosome v0.61 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.60 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Callosome v0.60 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.60 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Callosome v0.60 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.59 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.897 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Mendeliome v0.897 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Mendeliome v0.897 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.896 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Mendeliome v0.895 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Mendeliome v0.894 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Mendeliome v0.894 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Mendeliome v0.893 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.12 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from Holoprosencephaly to Holoprosencephaly
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Holoprosencephaly and septo-optic dysplasia v0.11 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Holoprosencephaly and septo-optic dysplasia v0.10 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.9 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.9 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.8 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.893 IMMP2L Zornitza Stark Marked gene: IMMP2L as ready
Mendeliome v0.893 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Mendeliome v0.893 IMMP2L Zornitza Stark Phenotypes for gene: IMMP2L were changed from to Autism
Mendeliome v0.892 IMMP2L Zornitza Stark Publications for gene: IMMP2L were set to
Mendeliome v0.891 IMMP2L Zornitza Stark Mode of inheritance for gene: IMMP2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.890 IMMP2L Zornitza Stark Classified gene: IMMP2L as Red List (low evidence)
Mendeliome v0.890 IMMP2L Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence).
Mendeliome v0.889 IMMP2L Zornitza Stark reviewed gene: IMMP2L: Rating: RED; Mode of pathogenicity: None; Publications: 29788020, 29152845; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.889 PTPRR Zornitza Stark Marked gene: PTPRR as ready
Mendeliome v0.889 PTPRR Zornitza Stark Gene: ptprr has been classified as Red List (Low Evidence).
Mendeliome v0.889 STAT4 Zornitza Stark Marked gene: STAT4 as ready
Mendeliome v0.889 STAT4 Zornitza Stark Gene: stat4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Genetic Epilepsy v0.230 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.229 DLL1 Zornitza Stark gene: DLL1 was added
gene: DLL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis
Review for gene: DLL1 was set to GREEN
Added comment: Fifteen individuals from 12 unrelated families reported.
Sources: Literature
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Genetic Epilepsy v0.228 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Genetic Epilepsy v0.227 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Mendeliome v0.889 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Mendeliome v0.889 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Mendeliome v0.888 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Classified gene: MTHFS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1642 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1641 MTHFS Zornitza Stark gene: MTHFS was added
gene: MTHFS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Review for gene: MTHFS was set to GREEN
Added comment: Three unrelated individuals reported with supporting biochemical evidence.
Sources: Literature
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Classified gene: CUL4B as Green List (high evidence)
Genetic Epilepsy v0.226 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.225 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CUL4B were set to 22182342; 17236139
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
Review for gene: CUL4B was set to GREEN
gene: CUL4B was marked as current diagnostic
Added comment: ~30% of reported individuals have had seizures.
Sources: Expert list
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Marked gene: CTNNA2 as ready
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Classified gene: CTNNA2 as Green List (high evidence)
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.223 CTNNA2 Zornitza Stark gene: CTNNA2 was added
gene: CTNNA2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Review for gene: CTNNA2 was set to GREEN
Added comment: 13 children from three unrelated families reported, epilepsy is part of the phenotype
Sources: Literature
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Classified gene: CREBBP as Green List (high evidence)
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.221 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREBBP were set to 29460469
Phenotypes for gene: CREBBP were set to Menke-Hennekam syndrome 1, MIM# 618332
Review for gene: CREBBP was set to GREEN
gene: CREBBP was marked as current diagnostic
Added comment: Exon 30 and 31 CREBBP variants cause a syndrome distinct from Rubinstein-Taybi and according to this case series 21% have epilepsy
Sources: Expert list
Genetic Epilepsy v0.220 COX15 Zornitza Stark Marked gene: COX15 as ready
Genetic Epilepsy v0.220 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.220 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000
Genetic Epilepsy v0.219 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000
Genetic Epilepsy v0.218 COX15 Zornitza Stark Publications for gene: COX15 were set to
Genetic Epilepsy v0.217 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.216 COX15 Zornitza Stark Classified gene: COX15 as Amber List (moderate evidence)
Genetic Epilepsy v0.216 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.215 COX15 Zornitza Stark reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: None; Publications: 21412973, 12474143, 15863660, 15235026,; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, MIM#615119 and Leigh syndrome #256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.215 COX10 Zornitza Stark Marked gene: COX10 as ready
Genetic Epilepsy v0.215 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.215 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Genetic Epilepsy v0.214 COX10 Zornitza Stark Publications for gene: COX10 were set to
Genetic Epilepsy v0.213 COX10 Zornitza Stark Mode of inheritance for gene: COX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.212 COX10 Zornitza Stark Classified gene: COX10 as Amber List (moderate evidence)
Genetic Epilepsy v0.212 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.211 COX10 Zornitza Stark reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 10767350; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.211 COQ6 Zornitza Stark Publications for gene: COQ6 were set to 21540551
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Marked gene: COQ6 as ready
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Gene: coq6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Publications for gene: COQ6 were set to
Genetic Epilepsy v0.209 COQ6 Zornitza Stark Mode of inheritance for gene: COQ6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.209 COQ6 Zornitza Stark Mode of inheritance for gene: COQ6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.208 COQ6 Zornitza Stark Classified gene: COQ6 as Amber List (moderate evidence)
Genetic Epilepsy v0.208 COQ6 Zornitza Stark Gene: coq6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.207 COQ6 Zornitza Stark reviewed gene: COQ6: Rating: AMBER; Mode of pathogenicity: None; Publications: 21540551; Phenotypes: Coenzyme Q10 deficiency, primary, 6, MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.207 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from Congenital disorder of glycosylation, type IIh, 611182 to Congenital disorder of glycosylation, type IIh, 611182
Genetic Epilepsy v0.206 COG8 Zornitza Stark Marked gene: COG8 as ready
Genetic Epilepsy v0.206 COG8 Zornitza Stark Gene: cog8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.206 COG8 Zornitza Stark Publications for gene: COG8 were set to 28619360; 17220172; 17331980
Genetic Epilepsy v0.206 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh, 611182
Genetic Epilepsy v0.205 COG8 Zornitza Stark Publications for gene: COG8 were set to
Genetic Epilepsy v0.205 COG8 Zornitza Stark Mode of inheritance for gene: COG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.204 COG8 Zornitza Stark Classified gene: COG8 as Amber List (moderate evidence)
Genetic Epilepsy v0.204 COG8 Zornitza Stark Gene: cog8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.203 COG8 Zornitza Stark reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: None; Publications: 28619360, 17220172, 17331980; Phenotypes: Congenital disorder of glycosylation, type IIh, 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.887 HOXB6 Zornitza Stark Marked gene: HOXB6 as ready
Mendeliome v0.887 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Green List (High Evidence).
Mendeliome v0.887 HOXB6 Zornitza Stark Phenotypes for gene: HOXB6 were changed from to Hypospadias
Mendeliome v0.886 HOXB6 Zornitza Stark Publications for gene: HOXB6 were set to
Mendeliome v0.885 HOXB6 Zornitza Stark Mode of inheritance for gene: HOXB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.884 LIFR Zornitza Stark Marked gene: LIFR as ready
Mendeliome v0.884 LIFR Zornitza Stark Gene: lifr has been classified as Green List (High Evidence).
Mendeliome v0.884 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; CAKUT
Mendeliome v0.883 LIFR Zornitza Stark Mode of inheritance for gene: LIFR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.882 LIFR Zornitza Stark Publications for gene: LIFR were set to
Mendeliome v0.881 LIFR Zornitza Stark Mode of inheritance for gene: LIFR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.203 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from Coenzyme Q10 deficiency, primary, 6, MIM#614650 to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.202 COG6 Zornitza Stark Marked gene: COG6 as ready
Genetic Epilepsy v0.202 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.202 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.202 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.201 COG6 Zornitza Stark Classified gene: COG6 as Amber List (moderate evidence)
Genetic Epilepsy v0.201 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.200 COG6 Zornitza Stark reviewed gene: COG6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 6, MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.200 COG4 Zornitza Stark Marked gene: COG4 as ready
Genetic Epilepsy v0.200 COG4 Zornitza Stark Gene: cog4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.200 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from Congenital disorder of glycosylation, type IIj, MIM#613489 to Congenital disorder of glycosylation, type IIj, MIM#613489
Genetic Epilepsy v0.199 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from to Congenital disorder of glycosylation, type IIj, MIM#613489
Genetic Epilepsy v0.199 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.198 COG4 Zornitza Stark Classified gene: COG4 as Amber List (moderate evidence)
Genetic Epilepsy v0.198 COG4 Zornitza Stark Gene: cog4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.197 COG4 Zornitza Stark reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIj, MIM#613489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.197 CHD4 Zornitza Stark Publications for gene: CHD4 were set to 27479907; 27616479
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM# 617159
Genetic Epilepsy v0.195 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.194 CHD4 Zornitza Stark Classified gene: CHD4 as Red List (low evidence)
Genetic Epilepsy v0.194 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.193 CHD4 Zornitza Stark reviewed gene: CHD4: Rating: RED; Mode of pathogenicity: None; Publications: 27479907, 27616479; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM# 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507 to PEHO syndrome-like, 617507
Genetic Epilepsy v0.192 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, 617507
Genetic Epilepsy v0.192 CCDC88A Zornitza Stark Publications for gene: CCDC88A were set to
Genetic Epilepsy v0.191 CCDC88A Zornitza Stark Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.190 CCDC88A Zornitza Stark reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Classified gene: CACNA1B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1639 CACNA1B Zornitza Stark gene: CACNA1B was added
gene: CACNA1B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to 30982612
Phenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Review for gene: CACNA1B was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Mendeliome v0.880 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Mendeliome v0.880 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Mendeliome v0.880 CACNA1B Zornitza Stark Phenotypes for gene: CACNA1B were changed from to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Mendeliome v0.879 CACNA1B Zornitza Stark Publications for gene: CACNA1B were set to
Mendeliome v0.878 CACNA1B Zornitza Stark Mode of inheritance for gene: CACNA1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.877 CACNA1B Zornitza Stark reviewed gene: CACNA1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30982612; Phenotypes: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Classified gene: CACNA1B as Green List (high evidence)
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.189 CACNA1B Zornitza Stark gene: CACNA1B was added
gene: CACNA1B was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to 30982612
Phenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Review for gene: CACNA1B was set to GREEN
gene: CACNA1B was marked as current diagnostic
Added comment: Three unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.187 ATP6V1A Zornitza Stark gene: ATP6V1A was added
gene: ATP6V1A was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 618012; Cutis laxa, type IID, 617403
Review for gene: ATP6V1A was set to GREEN
gene: ATP6V1A was marked as current diagnostic
Added comment: Monoallelic variants associated with Epileptic encephalopathy, infantile or early childhood, 3 618012 and biallelic variants associated with Cutis laxa, autosomal recessive, type IID 617403. Both phenotypes include seizures.
Sources: Expert list
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Classified gene: ATP6V0A2 as Green List (high evidence)
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.185 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A2 were set to 18157129; 22773132
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, type IIA,219200
Review for gene: ATP6V0A2 was set to GREEN
gene: ATP6V0A2 was marked as current diagnostic
Added comment: AR cutis laxa type IIa (ARCLA2A) is a multi-system disorder with features including cutis laxa, abnormal growth, dev delay, and skeletal abnormalities. Cobblestone-like brain dysgenesis manifests as developmental delay and an epileptic syndrome: Morova et al, 2008 - 10 patients with cutis laxa and clinical features included epilepsy. Van Maldergem et al, 2008 - 11 patients from 9 families - 5/11 developed refractory seizures. All but 1 patient had variants in ATP6V0A2.
Sources: Expert list
Callosome v0.59 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Callosome v0.59 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Callosome v0.59 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Callosome v0.59 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Mendeliome v0.877 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Mendeliome v0.877 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Mendeliome v0.877 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Mendeliome v0.877 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Callosome v0.58 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Callosome. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Mendeliome v0.876 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1637 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Mendeliome v0.875 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Intellectual disability syndromic and non-syndromic v0.1636 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Classified gene: NTNG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Mendeliome v0.874 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Mendeliome v0.874 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Mendeliome v0.874 NTNG2 Zornitza Stark Publications for gene: NTNG2 were set to
Mendeliome v0.873 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from to Intellectual disability; autism; dysmorphic features
Intellectual disability syndromic and non-syndromic v0.1634 NTNG2 Zornitza Stark gene: NTNG2 was added
gene: NTNG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31668703
Phenotypes for gene: NTNG2 were set to Intellectual disability; autism; dysmorphic features
Review for gene: NTNG2 was set to GREEN
Added comment: 16 individuals from 7 unrelated families.
Sources: Literature
Mendeliome v0.872 NTNG2 Zornitza Stark Mode of inheritance for gene: NTNG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.871 NTNG2 Zornitza Stark reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31668703; Phenotypes: Intellectual disability, autism, dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.871 RPL13 Zornitza Stark Marked gene: RPL13 as ready
Mendeliome v0.871 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Mendeliome v0.871 RPL13 Zornitza Stark Classified gene: RPL13 as Green List (high evidence)
Mendeliome v0.871 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Mendeliome v0.870 RPL13 Zornitza Stark gene: RPL13 was added
gene: RPL13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Review for gene: RPL13 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants.
Sources: Literature
Skeletal dysplasia v0.7 RPL13 Zornitza Stark Marked gene: RPL13 as ready
Skeletal dysplasia v0.7 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.7 RPL13 Zornitza Stark reviewed gene: RPL13: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal Dysplasia with Severe Short Stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.869 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Mendeliome v0.869 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Mendeliome v0.869 FOXJ1 Zornitza Stark Phenotypes for gene: FOXJ1 were changed from to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Mendeliome v0.868 FOXJ1 Zornitza Stark Publications for gene: FOXJ1 were set to
Mendeliome v0.867 FOXJ1 Zornitza Stark Mode of inheritance for gene: FOXJ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Classified gene: FOXJ1 as Green List (high evidence)
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Mendeliome v0.866 FOXJ1 Zornitza Stark reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630787; Phenotypes: hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v0.13 FOXJ1 Zornitza Stark gene: FOXJ1 was added
gene: FOXJ1 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Review for gene: FOXJ1 was set to GREEN
Added comment: Six unrelated individuals with de novo variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1632 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Microcephaly v0.74 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Microcephaly v0.74 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Microcephaly v0.74 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Microcephaly v0.74 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Microcephaly v0.73 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.866 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Mendeliome v0.866 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Mendeliome v0.866 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Mendeliome v0.866 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Mendeliome v0.865 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Lissencephaly and Band Heterotopia v0.12 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.12 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.11 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.864 RRAS2 Zornitza Stark Marked gene: RRAS2 as ready
Mendeliome v0.864 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Mendeliome v0.864 RRAS2 Zornitza Stark Phenotypes for gene: RRAS2 were changed from to Noonan syndrome 12, OMIM #618624
Mendeliome v0.863 RRAS2 Zornitza Stark Publications for gene: RRAS2 were set to
Mendeliome v0.862 RRAS2 Zornitza Stark Mode of inheritance for gene: RRAS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.861 RRAS2 Zornitza Stark reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31130282; Phenotypes: Noonan syndrome 12, OMIM #618624; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.39 SOS1 Bryony Thompson gene: SOS1 was added
gene: SOS1 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS1 were set to 29907801
Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733
Review for gene: SOS1 was set to RED
Added comment: Cystic hygromas are not a prominent feature of SOS1 associated Noonan syndrome
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Marked gene: TP73 as ready
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Gene: tp73 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Classified gene: TP73 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Gene: tp73 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1630 TP73 Zornitza Stark gene: TP73 was added
gene: TP73 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 31130284
Phenotypes for gene: TP73 were set to Intellectual disability; lissencephaly
Review for gene: TP73 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Vascular Malformations_Germline v0.38 PTPN14 Bryony Thompson Classified gene: PTPN14 as Green List (high evidence)
Vascular Malformations_Germline v0.38 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.37 PTPN14 Bryony Thompson gene: PTPN14 was added
gene: PTPN14 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema 613611
Review for gene: PTPN14 was set to GREEN
Added comment: Lymphedema is a prominent feature of the condition.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Marked gene: SMG8 as ready
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Gene: smg8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Classified gene: SMG8 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Gene: smg8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1628 SMG8 Zornitza Stark gene: SMG8 was added
gene: SMG8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to 31130284
Phenotypes for gene: SMG8 were set to Intellectual disability
Review for gene: SMG8 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Marked gene: IQSEC3 as ready
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Classified gene: PTPN11 as Red List (low evidence)
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Added comment: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Gene: ptpn11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Classified gene: IQSEC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.35 PTPN11 Bryony Thompson gene: PTPN11 was added
gene: PTPN11 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTPN11 were set to 27193571; 24939587; 29907801
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; cystic hygroma
Review for gene: PTPN11 was set to GREEN
Added comment: A pathogenic de novo variant was identied in a case diagnosed with megalencephaly-capillary malformation (MCAP) syndrome. However, the cases also had a somatic mosaic variant in PIK3CA which is the usual cause of MCAP. One of the prominent features of Noonan syndrome caused by this gene is cystic hygromas.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1626 IQSEC3 Zornitza Stark gene: IQSEC3 was added
gene: IQSEC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC3 were set to 31130284
Phenotypes for gene: IQSEC3 were set to Intellectual disability
Review for gene: IQSEC3 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Marked gene: ICE1 as ready
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Gene: ice1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Classified gene: ICE1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Gene: ice1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1624 ICE1 Zornitza Stark gene: ICE1 was added
gene: ICE1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICE1 were set to 31130284
Phenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy
Review for gene: ICE1 was set to AMBER
Added comment: Two unrelated families reported, no functional data; part of large consanguineous cohort, mixed phenotypes.
Sources: Literature
Vascular Malformations_Germline v0.34 PIK3R2 Bryony Thompson gene: PIK3R2 was added
gene: PIK3R2 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3R2 were set to 22729224; 28502725
Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Review for gene: PIK3R2 was set to RED
Added comment: This condition (MPPH) lacks vascular malformations as a feature of the phenotype. Two variants were identified in the blood of two postnatal cases suspected of having mosaic overgrowth syndromes, but clinical indication for testing was not provided.
Sources: Expert list
Vascular Malformations_Germline v0.33 PIK3R1 Bryony Thompson Tag somatic tag was added to gene: PIK3R1.
Vascular Malformations_Germline v0.33 PIK3R1 Bryony Thompson gene: PIK3R1 was added
gene: PIK3R1 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PIK3R1 was set to Other
Publications for gene: PIK3R1 were set to 29174369
Phenotypes for gene: PIK3R1 were set to capillary and lymphatic malformation
Review for gene: PIK3R1 was set to RED
Added comment: A patient carrying a somatic PIK3R1 (p.K567E) variant demonstrated capillary malformation and lymphatic malformation, with mild, proportional overgrowth of one extremity. No other reports with vascular malformations/anomalies. Germline variants cause various conditions where vascular malformations are not a prominent feature.
Sources: Expert list
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Classified gene: PIK3CA as Green List (high evidence)
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Added comment: Comment on list classification: Somatic activating mutaitons are the main cause of vascular malformations, but four individuals with germline variants have been reported.
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Gene: pik3ca has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.31 PIK3CA Bryony Thompson Tag somatic tag was added to gene: PIK3CA.
Vascular Malformations_Germline v0.31 PIK3CA Bryony Thompson reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 22729224, 23246288; Phenotypes: Megalencephaly-capillary malformation (MCAP) syndrome, Cowden syndrome 5 615108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Classified gene: NRAS as Red List (low evidence)
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus this gene is not suitable for a germline testing panel.
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Gene: nras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.30 NRAS Bryony Thompson Tag somatic tag was added to gene: NRAS.
Vascular Malformations_Germline v0.30 NRAS Bryony Thompson gene: NRAS was added
gene: NRAS was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: NRAS was set to Other
Publications for gene: NRAS were set to 30542204; 29461977
Phenotypes for gene: NRAS were set to Kaposiform lymphangiomatosis; Sporadic vascular malformation
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: NRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Noonan syndrome.
Sources: Expert list
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Classified gene: MTOR as Red List (low evidence)
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Added comment: Comment on list classification: Vascular malformations are not a prominent feature of the condition caused by germline variants in this gene. Somatic activating mutations are possibly associated with vascular malformations, thus this gene is not suitable for a germline testing panel.
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Gene: mtor has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.28 MTOR Bryony Thompson Added comment: Comment on mode of pathogenicity: Gain-of-function is the mechanism of disease
Vascular Malformations_Germline v0.28 MTOR Bryony Thompson Mode of pathogenicity for gene: MTOR was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Vascular Malformations_Germline v0.27 MTOR Bryony Thompson gene: MTOR was added
gene: MTOR was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MTOR.
Mode of inheritance for gene: MTOR was set to Other
Publications for gene: MTOR were set to 28892148; 29174369
Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341
Review for gene: MTOR was set to AMBER
Added comment: Haemangiomas are not a prominent feature of Smith-Kingsmore syndrome, which is caused by germline variants in MTOR (PMID: 28892148). A somatic MTOR (p.F1888L) variant was detected in a subject with macrodactyly and bilateral venous malformation of the lower extremities (PMID: 29174369). mTOR inhibitors are important in the management of vascular anomalies. It appears activating mutations in genes in the mTOR pathway are causative of vascular malformations rather than activating mutations in MTOR itself.
Sources: Expert list
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Classified gene: MAP3K3 as Red List (low evidence)
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Added comment: Comment on list classification: Somatic mutations are the cause of vascular malformations, thus this gene is not appropriate for a germline testing panel.
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Gene: map3k3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.25 MAP3K3 Bryony Thompson gene: MAP3K3 was added
gene: MAP3K3 was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MAP3K3.
Mode of inheritance for gene: MAP3K3 was set to Other
Publications for gene: MAP3K3 were set to 10700190; 25728774
Phenotypes for gene: MAP3K3 were set to Verrucous venous malformation
Review for gene: MAP3K3 was set to GREEN
Added comment: Somatic variants have been identified in 6 (out of 10) verrucous venous malformation specimens (and not in the germline). The authors suggest that the somatic mutations have a neomorphic or hypermorphic function.
Sources: Expert list
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Classified gene: MAP2K1 as Red List (low evidence)
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus it is not appropriate to include this gene on a germline testing panel.
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Gene: map2k1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.23 MAP2K1 Bryony Thompson gene: MAP2K1 was added
gene: MAP2K1 was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MAP2K1.
Mode of inheritance for gene: MAP2K1 was set to Other
Publications for gene: MAP2K1 were set to 31486960; 29461977; 28190454
Phenotypes for gene: MAP2K1 were set to Intramuscular fast-flow vascular anomaly; Arteriovenous malformation
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MAP2K1 was set to GREEN
Added comment: Somatic activating mutations in this gene cause sporadic vascular malformations.
Sources: Expert list
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Classified gene: KRAS as Red List (low evidence)
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations in this gene, thus it is not suitable to include on a germline testing panel.
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Gene: kras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.21 KRAS Bryony Thompson gene: KRAS was added
gene: KRAS was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: KRAS.
Mode of inheritance for gene: KRAS was set to Other
Publications for gene: KRAS were set to 30677207; 30544177; 31160609
Phenotypes for gene: KRAS were set to Arteriovenous malformation of the brain, somatic 108010; Vascular malformation
Mode of pathogenicity for gene: KRAS was set to Other
Review for gene: KRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause sporadic vascular malformations, particularly CNS AVMs. Germline mutations cause RASopathies.
Sources: Expert list
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Classified gene: KDR as Amber List (moderate evidence)
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Added comment: Comment on list classification: There is currently insufficient reports in patients to determine if this gene causes an inherited vascular malformation (haemangioma).
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Gene: kdr has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.19 KDR Bryony Thompson Tag somatic tag was added to gene: KDR.
Vascular Malformations_Germline v0.19 KDR Bryony Thompson gene: KDR was added
gene: KDR was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDR were set to 30475086; 7596435; 24704994; 18931684
Phenotypes for gene: KDR were set to {Hemangioma, capillary infantile, susceptibility to} 602089; Hemangioma, capillary infantile, somatic 602089; Cystic hygroma
Review for gene: KDR was set to AMBER
Added comment: The variant identified in PMID: 18931684 (Cys482Arg) in the germline of two unrelated hemangioma cases is too common in gnomAD to be associated with rare dominant disease, but may be a susceptibility loci. Another germline missense variant has been identified in a case of cystic hygroma (PMID: 30475086). Flk1-/- (Kdr-/-) mice are embryonic lethal and demonstrate an early defect in the development of hematopoietic and endothelial cells. Organized blood vessels could not be observed.
Sources: Expert list
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Classified gene: HRAS as Red List (low evidence)
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations cause vascular malformations, which is not really appropriate for a germline testing panel
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Gene: hras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.17 HRAS Bryony Thompson gene: HRAS was added
gene: HRAS was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: HRAS.
Mode of inheritance for gene: HRAS was set to Other
Publications for gene: HRAS were set to 31637524; 31160609; 30208313
Phenotypes for gene: HRAS were set to Extracranial arteriovenous malformations; Vascular malformation/overgrowth syndromes
Mode of pathogenicity for gene: HRAS was set to Other
Review for gene: HRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Costello syndrome.
Sources: Expert list
Vascular Malformations_Germline v0.16 Bryony Thompson Panel name changed from Vascular Malformations_RMH to Inherited Vascular Malformations
Panel types changed to Royal Melbourne Hospital
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Classified gene: GNA14 as Red List (low evidence)
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations have only been reported to cause vascular malformations. This gene is not really suitable for a germline testing panel.
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Gene: gna14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.14 GNA14 Bryony Thompson gene: GNA14 was added
gene: GNA14 was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: GNA14.
Mode of inheritance for gene: GNA14 was set to Other
Publications for gene: GNA14 were set to 31423605; 31707589; 27476652
Phenotypes for gene: GNA14 were set to Tufted angioma; Anastomosing hemangioma; vascular tumours
Mode of pathogenicity for gene: GNA14 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GNA14 was set to GREEN
Added comment: Somatic activating mutations cause sporadic and congenital vascular tumours.
Sources: Expert list
Vascular Malformations_Germline v0.13 CDKN1C Bryony Thompson gene: CDKN1C was added
gene: CDKN1C was added to Vascular Malformations_RMH. Sources: Expert list
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732
Review for gene: CDKN1C was set to RED
Added comment: It's not clearly reported that vascular malformations are a prominent feature of either of the conditions associated with this gene.
Sources: Expert list
Vascular Malformations_Germline v0.12 BRAF Bryony Thompson Classified gene: BRAF as Red List (low evidence)
Vascular Malformations_Germline v0.12 BRAF Bryony Thompson Gene: braf has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.11 GNA11 Bryony Thompson Classified gene: GNA11 as Red List (low evidence)
Vascular Malformations_Germline v0.11 GNA11 Bryony Thompson Gene: gna11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.10 GNAQ Bryony Thompson Classified gene: GNAQ as Red List (low evidence)
Vascular Malformations_Germline v0.10 GNAQ Bryony Thompson Gene: gnaq has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.9 AKT1 Bryony Thompson Classified gene: AKT1 as Red List (low evidence)
Vascular Malformations_Germline v0.9 AKT1 Bryony Thompson Gene: akt1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Classified gene: BRAF as Amber List (moderate evidence)
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations only are associated with vascular malformations. Not really suitable for a germline testing panel.
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Gene: braf has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.7 BRAF Bryony Thompson gene: BRAF was added
gene: BRAF was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: BRAF.
Mode of inheritance for gene: BRAF was set to Other
Publications for gene: BRAF were set to 29316280; 29461977; 30544177
Phenotypes for gene: BRAF were set to Sporadic vascular malformations
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: BRAF was set to GREEN
Added comment: Somatic activating mutations in BRAF cause sporadic vascular malformations and have recently been identified in CNS arteriovenous malformations.
Sources: Expert list
Vascular Malformations_Germline v0.6 AKT1 Bryony Thompson Deleted their comment
Vascular Malformations_Germline v0.6 AKT1 Bryony Thompson Tag somatic tag was added to gene: AKT1.
Vascular Malformations_Germline v0.6 GNA11 Bryony Thompson Tag somatic tag was added to gene: GNA11.
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Classified gene: GNAQ as Amber List (moderate evidence)
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Added comment: Comment on list classification: Somatic mutation only causes vascular malformations. Not really suitable for a germline testing panel.
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Gene: gnaq has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.5 GNAQ Bryony Thompson gene: GNAQ was added
gene: GNAQ was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: GNAQ.
Mode of inheritance for gene: GNAQ was set to Other
Publications for gene: GNAQ were set to 30920161
Phenotypes for gene: GNAQ were set to Sturge-Weber syndrome, somatic, mosaic 185300; Capillary malformations, congenital, 1, somatic, mosaic 163000; Phacomatosis pigmentovascularis
Review for gene: GNAQ was set to GREEN
Added comment: The somatic activating mutation Arg183Gln cause conditions with vascular malformations.
Sources: Expert list
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Classified gene: AKT1 as Amber List (moderate evidence)
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Added comment: Comment on list classification: Somatic variants have been reported in association with vascular malformation. This gene is probably not suitable for a germline testing panel.
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Gene: akt1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Classified gene: GNA11 as Amber List (moderate evidence)
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Added comment: Comment on list classification: Probably not suitable for a germline testing panel
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Gene: gna11 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.2 GNA11 Bryony Thompson reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30920161, 30677207; Phenotypes: Phacomatosis pigmentovascularis, somatic; Mode of inheritance: Other
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Classified gene: AKT1 as Green List (high evidence)
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Added comment: Comment on list classification: This gene is green for somatic variants.
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Gene: akt1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.1 AKT1 Bryony Thompson gene: AKT1 was added
gene: AKT1 was added to Vascular Malformations_RMH. Sources: Expert list
Mode of inheritance for gene: AKT1 was set to Other
Publications for gene: AKT1 were set to 23246288
Phenotypes for gene: AKT1 were set to Proteus syndrome, somatic 176920; Cowden syndrome 6 615109
Mode of pathogenicity for gene: AKT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: AKT1 was set to GREEN
Added comment: Activating mutations in this gene cause disease. Somatic activating variants cause Proteus syndrome, a disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Activating germline AKT1 variants have been reported in 2 cowden syndrome cases, that were negative for PTEN. Vascular malformations were not reported as part of the phenotype for these two cases.
Sources: Expert list
Rasopathy v0.4 RRAS2 Alison Yeung Classified gene: RRAS2 as Green List (high evidence)
Rasopathy v0.4 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.3 RRAS2 Alison Yeung Classified gene: RRAS2 as Green List (high evidence)
Rasopathy v0.3 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.3 RRAS2 Alison Yeung Marked gene: RRAS2 as ready
Rasopathy v0.3 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.3 RRAS2 Alison Yeung Classified gene: RRAS2 as Green List (high evidence)
Rasopathy v0.3 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.2 RRAS2 Alison Yeung gene: RRAS2 was added
gene: RRAS2 was added to Rasopathy. Sources: Literature
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAS2 were set to PMID: 31130282
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12 OMIM #618624
Review for gene: RRAS2 was set to GREEN
Added comment: Six unrelated families reported
Sources: Literature
Mendeliome v0.861 TP73 Alison Yeung Marked gene: TP73 as ready
Mendeliome v0.861 TP73 Alison Yeung Gene: tp73 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.861 TP73 Alison Yeung Classified gene: TP73 as Amber List (moderate evidence)
Mendeliome v0.861 TP73 Alison Yeung Gene: tp73 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.860 TP73 Alison Yeung gene: TP73 was added
gene: TP73 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to PMID: 31130284
Phenotypes for gene: TP73 were set to Cortical malformation; Lissencephaly
Review for gene: TP73 was set to AMBER
Added comment: Two unrelated families reported. No functional data
Sources: Literature
Mendeliome v0.859 SMG8 Alison Yeung Marked gene: SMG8 as ready
Mendeliome v0.859 SMG8 Alison Yeung Gene: smg8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.859 SMG8 Alison Yeung Classified gene: SMG8 as Amber List (moderate evidence)
Mendeliome v0.859 SMG8 Alison Yeung Gene: smg8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.858 SMG8 Alison Yeung gene: SMG8 was added
gene: SMG8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to PMID: 31130284
Phenotypes for gene: SMG8 were set to Intellectual disability
Review for gene: SMG8 was set to AMBER
Added comment: Two unrelated families reported. No functional data
Sources: Literature
Mendeliome v0.857 IQSEC3 Alison Yeung Marked gene: IQSEC3 as ready
Mendeliome v0.857 IQSEC3 Alison Yeung Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.857 IQSEC3 Alison Yeung Classified gene: IQSEC3 as Amber List (moderate evidence)
Mendeliome v0.857 IQSEC3 Alison Yeung Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.856 IQSEC3 Alison Yeung gene: IQSEC3 was added
gene: IQSEC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC3 were set to PMID: 31130284
Phenotypes for gene: IQSEC3 were set to Intellectual disability
Review for gene: IQSEC3 was set to AMBER
Added comment: Two unrelated families reported, no functional data
Sources: Literature
Mendeliome v0.855 ICE1 Alison Yeung Marked gene: ICE1 as ready
Mendeliome v0.855 ICE1 Alison Yeung Gene: ice1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.855 ICE1 Alison Yeung Classified gene: ICE1 as Amber List (moderate evidence)
Mendeliome v0.855 ICE1 Alison Yeung Gene: ice1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.854 ICE1 Alison Yeung gene: ICE1 was added
gene: ICE1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICE1 were set to PMID: 31130284
Phenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy
Review for gene: ICE1 was set to AMBER
Added comment: Two unrelated families reported, no functional data
Sources: Literature
Mendeliome v0.853 EIF2A Alison Yeung Marked gene: EIF2A as ready
Mendeliome v0.853 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.853 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Mendeliome v0.853 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.852 EIF2A Alison Yeung gene: EIF2A was added
gene: EIF2A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2A were set to PMID: 31130284
Phenotypes for gene: EIF2A were set to Intellectual disability, epilepsy
Review for gene: EIF2A was set to AMBER
Added comment: reported in two unrelated families
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1623 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1623 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Marked gene: EIF2A as ready
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1621 EIF2A Alison Yeung gene: EIF2A was added
gene: EIF2A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2A were set to PMID: 31130284
Phenotypes for gene: EIF2A were set to Intellectual disability, epilepsy
Review for gene: EIF2A was set to AMBER
Added comment: two unrelated families reported, no functional data
Sources: Literature
Leukodystrophy v0.49 UFM1 Bryony Thompson Marked gene: UFM1 as ready
Leukodystrophy v0.49 UFM1 Bryony Thompson Gene: ufm1 has been classified as Green List (High Evidence).
Leukodystrophy v0.49 UFM1 Bryony Thompson Classified gene: UFM1 as Green List (high evidence)
Leukodystrophy v0.49 UFM1 Bryony Thompson Gene: ufm1 has been classified as Green List (High Evidence).
Leukodystrophy v0.48 UFM1 Bryony Thompson gene: UFM1 was added
gene: UFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to 29868776
Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14 617899
Added comment: Homozygous missense segregates in 2 consanguineous Sudanese families, and a Roma founder muation found to cause hypomyelinating leukodystrophy.
Sources: Expert list
Leukodystrophy v0.47 TMEM63A Bryony Thompson Classified gene: TMEM63A as Green List (high evidence)
Leukodystrophy v0.47 TMEM63A Bryony Thompson Gene: tmem63a has been classified as Green List (High Evidence).
Leukodystrophy v0.46 TMEM63A Bryony Thompson gene: TMEM63A was added
gene: TMEM63A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM63A were set to 31587869
Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile 618688
Review for gene: TMEM63A was set to GREEN
Added comment: 4 unrelated patients with infantile-onset leukodystrophy with heterozygous variants.
Sources: Expert list
Leukodystrophy v0.45 STX11 Bryony Thompson gene: STX11 was added
gene: STX11 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4 603552
Review for gene: STX11 was set to RED
Added comment: It is unclear whether leukodystrophy is a feature of the condition. There are no reports of the gene associated with white matter changes.
Sources: Expert list
Leukodystrophy v0.44 SPART Bryony Thompson Classified gene: SPART as Green List (high evidence)
Leukodystrophy v0.44 SPART Bryony Thompson Gene: spart has been classified as Green List (High Evidence).
Leukodystrophy v0.43 SPART Bryony Thompson gene: SPART was added
gene: SPART was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPART were set to 28875386; 15372254
Phenotypes for gene: SPART were set to Troyer syndrome 275900
Review for gene: SPART was set to GREEN
Added comment: White matter abnormalities reported in at least 3 unrelated families, including the original Amish family where the condition was first described.
Sources: Expert list
Leukodystrophy v0.42 SLC25A1 Bryony Thompson gene: SLC25A1 was added
gene: SLC25A1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A1 were set to 29226520
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria 615182
Review for gene: SLC25A1 was set to RED
Added comment: Five infants of two consanguineous Bedouin families of the same tribe homozygous for the same variant with EEG compatible with white matter disorder. Death usually occurs in childhood.
Sources: Expert list
Leukodystrophy v0.41 SLC13A5 Bryony Thompson Classified gene: SLC13A5 as Amber List (moderate evidence)
Leukodystrophy v0.41 SLC13A5 Bryony Thompson Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.40 SLC13A5 Bryony Thompson gene: SLC13A5 was added
gene: SLC13A5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 27913086
Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25 615905
Review for gene: SLC13A5 was set to AMBER
Added comment: Six out of seven infants with punctate white matter lesions, which were no longer visible at the age of 6 months.
Sources: Expert list
Leukodystrophy v0.39 RAB11B Bryony Thompson Classified gene: RAB11B as Green List (high evidence)
Leukodystrophy v0.39 RAB11B Bryony Thompson Gene: rab11b has been classified as Green List (High Evidence).
Leukodystrophy v0.38 RAB11B Bryony Thompson gene: RAB11B was added
gene: RAB11B was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB11B were set to 29106825
Phenotypes for gene: RAB11B were set to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807
Review for gene: RAB11B was set to GREEN
Added comment: 5 unrelated cases with de novo variants and brain imaging, performed in 4 patients, showed white matter abnormalities.
Sources: Expert list
Leukodystrophy v0.37 PSAT1 Bryony Thompson gene: PSAT1 was added
gene: PSAT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2 616038; ?Phosphoserine aminotransferase deficiency 610992
Review for gene: PSAT1 was set to RED
Added comment: Neu-Laxova syndrome is a congenital lethal condition. Poor white matter development reported in one family with possible PSAT1 deficiency.
Sources: Expert list
Leukodystrophy v0.36 PRF1 Bryony Thompson gene: PRF1 was added
gene: PRF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 23443029; 21959744
Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2 603553
Review for gene: PRF1 was set to RED
Added comment: Leukodystrophy does not appear to be a prominent feature of the condition
Sources: Expert list
Leukodystrophy v0.35 PPT1 Bryony Thompson Classified gene: PPT1 as Amber List (moderate evidence)
Leukodystrophy v0.35 PPT1 Bryony Thompson Gene: ppt1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.34 PPT1 Bryony Thompson gene: PPT1 was added
gene: PPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPT1 were set to 5706364; 8576553
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730
Review for gene: PPT1 was set to AMBER
Added comment: White matter changes have been reported in neuronal ceroid lipofuscinosis, but not reported in association with this gene.
Sources: Expert list
Leukodystrophy v0.33 POLR1A Bryony Thompson gene: POLR1A was added
gene: POLR1A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: POLR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR1A were set to 28051070
Phenotypes for gene: POLR1A were set to ataxia; psychomotor retardation; cerebellar and cerebral atrophy; leukodystrophy
Review for gene: POLR1A was set to RED
Added comment: 2 brothers in a single consanguineous family with neurological disease including leukodystrophy with a homozygous variant. Reduced protein expression in patient cells.
Sources: Expert list
Leukodystrophy v0.32 PLEKHG2 Bryony Thompson Classified gene: PLEKHG2 as Amber List (moderate evidence)
Leukodystrophy v0.32 PLEKHG2 Bryony Thompson Gene: plekhg2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.31 PLEKHG2 Bryony Thompson gene: PLEKHG2 was added
gene: PLEKHG2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG2 were set to 26573021
Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia 616763
Review for gene: PLEKHG2 was set to AMBER
Added comment: 5 children from 2 unrelated consanguineous families with leukodystrophy and acquired microcephaly with or without dystonia, and homozygous for the same variant. Limited functional assays were conducted.
Sources: Expert list
Leukodystrophy v0.30 PHGDH Bryony Thompson gene: PHGDH was added
gene: PHGDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Review for gene: PHGDH was set to RED
Added comment: No clear link to leukodystophy for this gene.
Sources: Expert list
Leukodystrophy v0.29 OCRL Bryony Thompson reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: 31922591, 19168822, 11315202; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.29 OCLN Bryony Thompson changed review comment from: Link to leukodystrophy not clear.
Sources: Expert list; to: No clear link to leukodystrophy.
Sources: Expert list
Leukodystrophy v0.29 OCLN Bryony Thompson gene: OCLN was added
gene: OCLN was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Pseudo-TORCH syndrome 1 251290
Review for gene: OCLN was set to RED
Added comment: Link to leukodystrophy not clear.
Sources: Expert list
Leukodystrophy v0.28 NDUFA2 Bryony Thompson Classified gene: NDUFA2 as Amber List (moderate evidence)
Leukodystrophy v0.28 NDUFA2 Bryony Thompson Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.27 NDUFA2 Bryony Thompson gene: NDUFA2 was added
gene: NDUFA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA2 were set to ?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy
Review for gene: NDUFA2 was set to AMBER
Added comment: Biallelic variants in 2 unrelated patients with cystic leukoencephalopathy and complex I deficiency.
Sources: Expert list
Leukodystrophy v0.26 MRPS16 Bryony Thompson gene: MRPS16 was added
gene: MRPS16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498
Review for gene: MRPS16 was set to RED
Added comment: No clear link to leukodystrophy reported.
Sources: Expert list
Leukodystrophy v0.25 MPLKIP Bryony Thompson gene: MPLKIP was added
gene: MPLKIP was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive 234050
Review for gene: MPLKIP was set to RED
Added comment: White matter changes have been reported in association with trichothiodystrophy, but has not been reported in this subtype of the disease.
Sources: Expert list
Leukodystrophy v0.24 HMBS Bryony Thompson Classified gene: HMBS as Amber List (moderate evidence)
Leukodystrophy v0.24 HMBS Bryony Thompson Gene: hmbs has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.23 HMBS Bryony Thompson reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.23 HMBS Bryony Thompson Deleted their review
Leukodystrophy v0.23 HMBS Bryony Thompson gene: HMBS was added
gene: HMBS was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMBS were set to 27558376
Phenotypes for gene: HMBS were set to Acute intermittent porphyria-related leukoencephalopathy
Review for gene: HMBS was set to RED
Added comment: Compound heterozygous variants segregate in three affected individuals in a single family.
Sources: Expert list
Leukodystrophy v0.22 GTF2H5 Bryony Thompson gene: GTF2H5 was added
gene: GTF2H5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive 616395
Review for gene: GTF2H5 was set to RED
Added comment: White matter changes have been reported in association with trichothiodystrophy, but not in association with this subtype condition.
Sources: Expert list
Leukodystrophy v0.21 GFPT1 Bryony Thompson Classified gene: GFPT1 as Amber List (moderate evidence)
Leukodystrophy v0.21 GFPT1 Bryony Thompson Gene: gfpt1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.20 GFPT1 Bryony Thompson gene: GFPT1 was added
gene: GFPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFPT1 were set to 30635494
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates 610542; Leukoencephalopathy
Review for gene: GFPT1 was set to AMBER
Added comment: 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease. MRI was suggestive of a mitochondrial leukoencephalopathy. Need additional unrelated cases with leukoencephalopathy as a feature of the condition to upgrade to green.
Sources: Expert list
Leukodystrophy v0.19 FIG4 Bryony Thompson Classified gene: FIG4 as Green List (high evidence)
Leukodystrophy v0.19 FIG4 Bryony Thompson Gene: fig4 has been classified as Green List (High Evidence).
Leukodystrophy v0.18 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 30740813; 29688489
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340; leukoencephalopathy
Review for gene: FIG4 was set to GREEN
Added comment: Two unrelated families with leukoencephalopathy as a feature of their conditions, and a mouse model recapitulating the phenotype.
Sources: Expert list
Leukodystrophy v0.17 ERCC3 Bryony Thompson gene: ERCC3 was added
gene: ERCC3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive 616390
Review for gene: ERCC3 was set to RED
Added comment: White matter changes have been reported in Trichothiodystrophy cases, but no neurological findings have been reported for the subtype of the condition caused by ERCC3.
Sources: Expert list
Leukodystrophy v0.16 ERCC2 Bryony Thompson Classified gene: ERCC2 as Amber List (moderate evidence)
Leukodystrophy v0.16 ERCC2 Bryony Thompson Gene: ercc2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.15 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 29451896
Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive 601675
Review for gene: ERCC2 was set to AMBER
Added comment: White matter changes have been reported as a feature of trichothiodystrophy, but has only been reported in association with ERCC2 in 1 case.
Sources: Expert list
Leukodystrophy v0.14 DEGS1 Bryony Thompson Marked gene: DEGS1 as ready
Leukodystrophy v0.14 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Leukodystrophy v0.14 DEGS1 Bryony Thompson Classified gene: DEGS1 as Green List (high evidence)
Leukodystrophy v0.14 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Leukodystrophy v0.13 DEGS1 Bryony Thompson gene: DEGS1 was added
gene: DEGS1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18 618404
Review for gene: DEGS1 was set to GREEN
Added comment: Hypomyelinating leukodystorphy is the prominent feature of this condition.
Sources: Expert list
Leukodystrophy v0.12 CYP2U1 Bryony Thompson Classified gene: CYP2U1 as Amber List (moderate evidence)
Leukodystrophy v0.12 CYP2U1 Bryony Thompson Gene: cyp2u1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.11 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to 27292318
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive 615030
Review for gene: CYP2U1 was set to AMBER
Added comment: White matter lesions have been reported in the condition, but are rare and not a prominent feature.
Sources: Expert list
Leukodystrophy v0.10 COQ9 Bryony Thompson gene: COQ9 was added
gene: COQ9 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5 614654
Review for gene: COQ9 was set to RED
Added comment: White matter changes are not reported as a prominent feature of the condition.
Sources: Expert list
Leukodystrophy v0.9 COQ8A Bryony Thompson gene: COQ8A was added
gene: COQ8A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 612016
Review for gene: COQ8A was set to RED
Added comment: White matter changes don't appear to be a prominent feature of the condition.
Sources: Expert list
Leukodystrophy v0.8 BCAP31 Bryony Thompson Classified gene: BCAP31 as Green List (high evidence)
Leukodystrophy v0.8 BCAP31 Bryony Thompson Gene: bcap31 has been classified as Green List (High Evidence).
Leukodystrophy v0.7 BCAP31 Bryony Thompson gene: BCAP31 was added
gene: BCAP31 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BCAP31 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, 300475
Review for gene: BCAP31 was set to GREEN
Added comment: White matter changes are a feature of the condition.
Sources: Expert list
Leukodystrophy v0.6 ATPAF2 Bryony Thompson gene: ATPAF2 was added
gene: ATPAF2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATPAF2 were set to 14757859
Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Review for gene: ATPAF2 was set to RED
Added comment: A homozygous missense variant identified in a single case diagnosed with mitochondrial encephalomyopathy, with white matter mypoplasia as one of the neurological features. No functional assays of the variant were conducted.
Sources: Expert list
Leukodystrophy v0.5 ATP7A Bryony Thompson Marked gene: ATP7A as ready
Leukodystrophy v0.5 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Leukodystrophy v0.5 ATP7A Bryony Thompson Classified gene: ATP7A as Green List (high evidence)
Leukodystrophy v0.5 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Leukodystrophy v0.4 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ATP7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7A were set to 26937406; 21924848; 29789304
Phenotypes for gene: ATP7A were set to Menkes disease, 309400
Review for gene: ATP7A was set to GREEN
Added comment: One of the features of Menkes disease is white matter changes and an ATP7A mouse model demonstrates hypomyelination.
Sources: Expert list
Leukodystrophy v0.3 AIMP2 Bryony Thompson gene: AIMP2 was added
gene: AIMP2 was added to Leukodystrophy - paediatric_RMH. Sources: Literature
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP2 were set to 29215095
Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 618006
Review for gene: AIMP2 was set to RED
Added comment: Two apparently unrelated consanguineous families with the same truncating variant. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor. No functional analyses conducted.
Sources: Literature
Ataxia v0.47 ACBD5 Bryony Thompson changed review comment from: 2 unrelated families and no functional evidence
Sources: Expert list; to: 2 unrelated families and no functional evidence linking the gene to an ataxia phenotype
Sources: Expert list
Leukodystrophy v0.2 ACBD5 Bryony Thompson Classified gene: ACBD5 as Green List (high evidence)
Leukodystrophy v0.2 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Green List (High Evidence).
Leukodystrophy v0.1 ACBD5 Bryony Thompson gene: ACBD5 was added
gene: ACBD5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 23105016; 27799409
Phenotypes for gene: ACBD5 were set to Progressive leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy
Review for gene: ACBD5 was set to GREEN
Added comment: One family and one case with a phenotype that includes leukodystrophy as a prominent feature of the condition, and in vitro functional assays demonstrating ACBD5 deficiency shares similarities with other peroxisomal single enzyme deficiencies.
Sources: Expert list
Mendeliome v0.850 Sebastian Lunke removed gene:TRIM28 from the panel
Mendeliome v0.849 Sebastian Lunke removed gene:PRKN from the panel
Mendeliome v0.848 Sebastian Lunke removed gene:DSC2 from the panel
Mendeliome v0.846 Sebastian Lunke removed gene:CHEK2 from the panel
Renal Cystic Disease_SuperPanel v0.115 Zornitza Stark Panel status changed from public to promoted
Immunological disorders_SuperPanel v0.125 Zornitza Stark Panel status changed from public to promoted
Cardiomyopathy_Adult_SuperPanel v0.20 Zornitza Stark Panel status changed from public to promoted
Arrhythmia_SuperPanel v0.17 Zornitza Stark Panel status changed from public to promoted
Mendeliome v0.845 KCNN3 Alison Yeung Marked gene: KCNN3 as ready
Mendeliome v0.845 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Mendeliome v0.845 KCNN3 Alison Yeung Classified gene: KCNN3 as Green List (high evidence)
Mendeliome v0.845 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Mendeliome v0.844 KCNN3 Alison Yeung gene: KCNN3 was added
gene: KCNN3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to PMID: 31155282
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658
Review for gene: KCNN3 was set to GREEN
gene: KCNN3 was marked as current diagnostic
Added comment: Three unrelated individuals reported
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Marked gene: KCNN3 as ready
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Classified gene: KCNN3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1619 KCNN3 Alison Yeung gene: KCNN3 was added
gene: KCNN3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to PMID: 31155282
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658
Review for gene: KCNN3 was set to GREEN
gene: KCNN3 was marked as current diagnostic
Added comment: Reported in three unrelated individuals
Sources: Literature
Autism v0.42 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Autism v0.42 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Autism v0.42 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Autism v0.42 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.843 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Mendeliome v0.843 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.843 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Mendeliome v0.842 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Mendeliome v0.841 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.840 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Mendeliome v0.840 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Autism v0.41 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Mendeliome v0.839 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.40 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Autism v0.39 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.38 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.839 ADCY8 Zornitza Stark Marked gene: ADCY8 as ready
Mendeliome v0.839 ADCY8 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.839 ADCY8 Zornitza Stark Gene: adcy8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Intellectual disability; Autism; Epilepsy
Mendeliome v0.839 ADCY8 Zornitza Stark Classified gene: ADCY8 as Red List (low evidence)
Mendeliome v0.839 ADCY8 Zornitza Stark Gene: adcy8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1617 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Marked gene: CNOT1 as ready
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1617 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Classified gene: CNOT1 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1616 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1616 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1615 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.7 CNOT1 Alison Yeung gene: CNOT1 was added
gene: CNOT1 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to PMID: 31006513
Phenotypes for gene: CNOT1 were set to HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12; OMIM# 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: Three unrelated individuals reported. Functional studies in mouse
Sources: Literature
Hereditary Haemorrhagic Telangiectasia v0.6 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Mendeliome v0.838 CNOT1 Alison Yeung Marked gene: CNOT1 as ready
Mendeliome v0.838 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Mendeliome v0.838 CNOT1 Alison Yeung Classified gene: CNOT1 as Green List (high evidence)
Mendeliome v0.838 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Mendeliome v0.837 CNOT1 Alison Yeung gene: CNOT1 was added
gene: CNOT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to PMID: 31006513
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis; OMIM# 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: Reported in 3 unrelated individuals
Sources: Literature
Mendeliome v0.836 IQSEC1 Zornitza Stark Marked gene: IQSEC1 as ready
Mendeliome v0.836 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Mendeliome v0.836 IQSEC1 Zornitza Stark Classified gene: IQSEC1 as Green List (high evidence)
Mendeliome v0.836 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Mendeliome v0.835 IQSEC1 Zornitza Stark gene: IQSEC1 was added
gene: IQSEC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC1 were set to 31607425
Phenotypes for gene: IQSEC1 were set to Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687
Review for gene: IQSEC1 was set to GREEN
Added comment: Five individuals from two unrelated families reported, animal model data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Marked gene: IQSEC1 as ready
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Classified gene: IQSEC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1614 IQSEC1 Zornitza Stark gene: IQSEC1 was added
gene: IQSEC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC1 were set to 31607425
Phenotypes for gene: IQSEC1 were set to Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687
Review for gene: IQSEC1 was set to GREEN
Added comment: Five individuals from two unrelated families reported, animal model data.
Sources: Literature
Hereditary Haemorrhagic Telangiectasia v0.5 Bryony Thompson Panel name changed from Hereditary Haemorrhagic Telangiectasia_RMH to Hereditary Haemorrhagic Telangiectasia
Panel types changed to Royal Melbourne Hospital
Monogenic Diabetes v0.3 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Monogenic Diabetes v0.3 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence).
Mendeliome v0.834 ACAN Zornitza Stark Marked gene: ACAN as ready
Mendeliome v0.834 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Mendeliome v0.834 ACAN Zornitza Stark Classified gene: ACAN as Green List (high evidence)
Mendeliome v0.834 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Mendeliome v0.833 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 612813
Review for gene: ACAN was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.832 NKX2-2 Zornitza Stark Marked gene: NKX2-2 as ready
Mendeliome v0.832 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Mendeliome v0.832 NKX2-2 Zornitza Stark Classified gene: NKX2-2 as Green List (high evidence)
Mendeliome v0.832 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Mendeliome v0.831 NKX2-2 Zornitza Stark gene: NKX2-2 was added
gene: NKX2-2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-2 were set to 24411943; 9584121
Phenotypes for gene: NKX2-2 were set to Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Review for gene: NKX2-2 was set to GREEN
Added comment: Sources: Expert list
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Marked gene: NKX2-2 as ready
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Added comment: Comment when marking as ready: Mouse model also supports gene-disease association.
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Publications for gene: NKX2-2 were set to 24411943
Monogenic Diabetes v0.2 NKX2-2 Zornitza Stark Phenotypes for gene: NKX2-2 were changed from to Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Monogenic Diabetes v0.1 NKX2-2 Zornitza Stark reviewed gene: NKX2-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24411943; Phenotypes: Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.1 Zornitza Stark Panel name changed from Monogenic diabetes to Monogenic Diabetes
Panel types changed to Rare Disease; Victorian Clinical Genetics Services
Monogenic Diabetes v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMPSTE24 were set to 12913070; 15317753; 20034068; 16297189; 18435794
Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612
Monogenic Diabetes v0.0 ZFP57 Zornitza Stark gene: ZFP57 was added
gene: ZFP57 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFP57 were set to Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes; Transient Neonatal Diabetes, Recessive
Monogenic Diabetes v0.0 ZBTB20 Zornitza Stark gene: ZBTB20 was added
gene: ZBTB20 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB20 were set to 20644156; 25017102
Phenotypes for gene: ZBTB20 were set to Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050
Monogenic Diabetes v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27185633; 27217304
Phenotypes for gene: WFS1 were set to Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome, 222300; Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41,116400; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; Deafness,autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; diabetes insipidus or optic atrophy
Monogenic Diabetes v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT10A were set to 26297882; 24204302
Phenotypes for gene: TRMT10A were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Monogenic Diabetes v0.0 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250
Monogenic Diabetes v0.0 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 25038750; 27167055
Mode of pathogenicity for gene: STAT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Red
Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT1 were set to 23534974
Mode of pathogenicity for gene: STAT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 SLC40A1 Zornitza Stark gene: SLC40A1 was added
gene: SLC40A1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069
Monogenic Diabetes v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to PMID: 23456528; 22831748; 22660720
Phenotypes for gene: SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome
Monogenic Diabetes v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 19336477
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome,602782; Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes)
Monogenic Diabetes v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to 26549656; 26839896
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
Monogenic Diabetes v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFX6 were set to 27167055; 27185633; 26770845; 26761945; 26264437; 26559129; 25048417
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710; Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; recessive syndromic diabetes and autosomal dominant MODY
Monogenic Diabetes v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
Monogenic Diabetes v0.0 PPP1R15B Zornitza Stark gene: PPP1R15B was added
gene: PPP1R15B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPP1R15B were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817
Monogenic Diabetes v0.0 PPARG Zornitza Stark gene: PPARG was added
gene: PPARG was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPARG were set to Insulin resistance, severe, digenic; FPLD3; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Lipodystrophy, familial partial, type 3; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic 604367; [Obesity, resistance to]; Lipodystrophy, familial partial, type 3, 604367; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Carotid intimal medial thickness 1, 609338
Monogenic Diabetes v0.0 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLD1 were set to 23770608
Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males
Mode of pathogenicity for gene: POLD1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 PLIN1 Zornitza Stark gene: PLIN1 was added
gene: PLIN1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLIN1 were set to 11371650; 21345103; 25695774; 30020498
Phenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877; partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic Diabetes v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R1 were set to 23810378
Phenotypes for gene: PIK3R1 were set to Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome
Mode of pathogenicity for gene: PIK3R1 was set to Other - please provide details in the comments
Monogenic Diabetes v0.0 PDX1 Zornitza Stark gene: PDX1 was added
gene: PDX1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392; MODY4; Pancreatic agenesis 1; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4
Monogenic Diabetes v0.0 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 24204001; 24848070
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Monogenic Diabetes v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to Aniridia 106210; diabetes
Monogenic Diabetes v0.0 PAX4 Zornitza Stark gene: PAX4 was added
gene: PAX4 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX4 were set to Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 NKX2-2 Zornitza Stark gene: NKX2-2 was added
gene: NKX2-2 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-2 were set to 24411943
Monogenic Diabetes v0.0 NEUROG3 Zornitza Stark gene: NEUROG3 was added
gene: NEUROG3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG3 were set to 25650326; 26288179
Monogenic Diabetes v0.0 NEUROD1 Zornitza Stark gene: NEUROD1 was added
gene: NEUROD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242
Phenotypes for gene: NEUROD1 were set to MODY6; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young 6, 606394; Permanent neonatal diabetes and cerebellar agenesis
Monogenic Diabetes v0.0 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNX1 were set to 24411943; 23562494; 26534984
Monogenic Diabetes v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 25468195; 25479458; 26206937; 26745254; 27057999
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity
Monogenic Diabetes v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 24002959; 26775134
Phenotypes for gene: LMNA were set to Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes; FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660
Monogenic Diabetes v0.0 LIPC Zornitza Stark gene: LIPC was added
gene: LIPC was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LIPC was set to Unknown
Phenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent}, 125853; [High density lipoprotein cholesterol level QTL 12], 612797; Hepatic lipase deficiency, 614025
Monogenic Diabetes v0.0 KLF11 Zornitza Stark gene: KLF11 was added
gene: KLF11 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Red
Mode of inheritance for gene: KLF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLF11 were set to Maturity-onset diabetes of the young, type VII, 610508; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3; Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Transient Neonatal diabetes mellitus (Dominant)
Mode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: INSR were set to 8288049
Phenotypes for gene: INSR were set to Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Leprechaunism, 246200; OMIM 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Rabson-Mendenhall syndrome, 262190
Monogenic Diabetes v0.0 INS Zornitza Stark gene: INS was added
gene: INS was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INS were set to Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, type 1, 125852; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); MODY10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus
Monogenic Diabetes v0.0 IL2RA Zornitza Stark gene: IL2RA was added
gene: IL2RA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green,NHS GMS
Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RA were set to 17196245
Phenotypes for gene: IL2RA were set to Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; neonatal diabetes
Monogenic Diabetes v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 22991235; 24138066; 21835305
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome
Monogenic Diabetes v0.0 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF4A were set to 28242437
Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853
Monogenic Diabetes v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700
Monogenic Diabetes v0.0 HNF1A Zornitza Stark gene: HNF1A was added
gene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1A were set to MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; Maturity-Onset Diabetes Of The Young; MODY, type III, 600496; Maturity-onset diabetes of the young (MODY); MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, noninsulin-dependent, 2}, 125853; Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, insulin-dependent}, 222100; Maturity Onset Diabetes of the Young; MODY3
Monogenic Diabetes v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390
Monogenic Diabetes v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to {Porphyria variegata, susceptibility to}, 176200; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria cutanea tarda, susceptibility to}, 176100; {Alzheimer disease, susceptibility to}, 104300
Monogenic Diabetes v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313
Monogenic Diabetes v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Monogenic diabetes. Sources: Expert Review Removed,UKGTN,Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3
Monogenic Diabetes v0.0 GCK Zornitza Stark gene: GCK was added
gene: GCK was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: GCK were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Fasting hyperglycaemia; Maturity Onset Diabetes of the Young; Neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Permanent Neonatal Diabetes Mellitus (recessive); Transient Neonatal Diabetes, Recessive; Diabetes mellitus, noninsulin-dependent, late onset, 125853; MODY2; Diabetes mellitus, gestational, 125851
Monogenic Diabetes v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 25706805; 25708516; 25356219; 22158542; 27098067; 23635550; 22806356; 24310933; 23223019; 22962692; 26210631; 24433315; 23639568
Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
Monogenic Diabetes v0.0 GATA4 Zornitza Stark gene: GATA4 was added
gene: GATA4 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green,NHS GMS
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA4 were set to 27810688; 24696446; 20854389
Monogenic Diabetes v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Monogenic Diabetes v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FOXC2 was set to Unknown
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Monogenic Diabetes v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF2S3 were set to 28055140
Phenotypes for gene: EIF2S3 were set to microcephaly; MEHMO syndrome (X-linked NDM and microcephaly),300148; diabetes; epilepsy; hypogonadism; intellectual disability; hypogenitalism; central obesity
Monogenic Diabetes v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2AK3 were set to 19837917
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus
Monogenic Diabetes v0.0 DYRK1B Zornitza Stark gene: DYRK1B was added
gene: DYRK1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DYRK1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYRK1B were set to Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); Abdominal obesity-metabolic syndrome 3, 615812
Monogenic Diabetes v0.0 DNAJC3 Zornitza Stark gene: DNAJC3 was added
gene: DNAJC3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC3 were set to Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration; ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
Monogenic Diabetes v0.0 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Monogenic diabetes. Sources: Expert Review Amber,Other
Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098
Phenotypes for gene: DMXL2 were set to Sensorineural Hearing Loss; OMIM:612186; ORPHA90636
Monogenic Diabetes v0.0 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 24464444; 19026396; 20507343
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness); Woodhouse-Sakati syndrome, 241080
Monogenic Diabetes v0.0 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia
Monogenic Diabetes v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
Monogenic Diabetes v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 25056293; 17846994
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2604928
Monogenic Diabetes v0.0 CIDEC Zornitza Stark gene: CIDEC was added
gene: CIDEC was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CIDEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIDEC were set to 20049731
Phenotypes for gene: CIDEC were set to Lipodystrophy, familial partial, type 5
Monogenic Diabetes v0.0 CEL Zornitza Stark gene: CEL was added
gene: CEL was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEL were set to 19760265; 21784842; 27650499; 18544793; 17989309; 24062244; 16369531; 25160620
Phenotypes for gene: CEL were set to Diabetes and pancreatic exocrine dysfunction; Maturity-onset diabetes of the young, type VIII, 609812
Monogenic Diabetes v0.0 CAV1 Zornitza Stark gene: CAV1 was added
gene: CAV1 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CAV1 was set to Unknown
Publications for gene: CAV1 were set to 18211975
Phenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Monogenic Diabetes v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSCL2 were set to 11479539
Phenotypes for gene: BSCL2 were set to Berardinelli-Seip congenital lipodystrophy
Monogenic Diabetes v0.0 BLK Zornitza Stark gene: BLK was added
gene: BLK was added to Monogenic diabetes. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BLK were set to Maturity-onset diabetes of the young, type 11, 613375; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 APPL1 Zornitza Stark gene: APPL1 was added
gene: APPL1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APPL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: APPL1 were set to {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes
Monogenic Diabetes v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Monogenic Diabetes v0.0 AKT2 Zornitza Stark gene: AKT2 was added
gene: AKT2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT2 were set to 17576055; 15166380; 17327441
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic Diabetes v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Lipodystrophy, congenital generalized, type 1, 608594
Monogenic Diabetes v0.0 AGPAT2 Zornitza Stark gene: AGPAT2 was added
gene: AGPAT2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT2 were set to PubMed PMID: 11967537, PubMed PMID: 12765973.
Phenotypes for gene: AGPAT2 were set to neonatal diabetes mellitus
Monogenic Diabetes v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to DIABETES MELLITUS, NONINSULIN-DEPENDENT; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853; Permanent Neonatal Diabetes Mellitus; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6
Mode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 Zornitza Stark Added panel Monogenic diabetes
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Marked gene: GAS2L2 as ready
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated individuals reported, downgrade to Amber.
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Phenotypes for gene: GAS2L2 were changed from to Ciliary dyskinesia, primary, 41 (MIM # 618449)
Ciliary Dyskinesia v0.11 GAS2L2 Zornitza Stark Publications for gene: GAS2L2 were set to
Ciliary Dyskinesia v0.10 GAS2L2 Zornitza Stark Mode of inheritance for gene: GAS2L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.9 GAS2L2 Zornitza Stark Classified gene: GAS2L2 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.9 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.15 MAPK8IP3 Zornitza Stark gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
Added comment: 13 unrelated individuals reported, with de novo truncating or missense variants (one recurrent). Brain anomalies such as perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum were consistent among individuals harboring recurrent de novo missense variants.
Sources: Literature
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Polymicrogyria and Schizencephaly v0.13 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Polymicrogyria and Schizencephaly v0.12 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v0.8 GAS2L2 Ain Roesley reviewed gene: GAS2L2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30665704; Phenotypes: ?Ciliary dyskinesia, primary, 41 (MIM # 618449); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Marked gene: POLA1 as ready
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Gene: pola1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Classified gene: POLA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Gene: pola1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1612 POLA1 Alison Yeung gene: POLA1 was added
gene: POLA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: POLA1 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: POLA1 were set to PMID: 31006512
Phenotypes for gene: POLA1 were set to Van Esch-O'Driscoll syndrome OMIM# 301030
Review for gene: POLA1 was set to GREEN
gene: POLA1 was marked as current diagnostic
Added comment: Five unrelated families reported
Sources: Literature
Mendeliome v0.830 GPC4 Alison Yeung reviewed gene: GPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30982611; Phenotypes: Keipert syndrome OMIM# 301026; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Marked gene: GPC4 as ready
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Classified gene: GPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1610 GPC4 Alison Yeung Classified gene: GPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1610 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1609 GPC4 Alison Yeung gene: GPC4 was added
gene: GPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GPC4 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: GPC4 were set to PMID: 30982611
Phenotypes for gene: GPC4 were set to Keipert syndrome OMIM# 301026
Review for gene: GPC4 was set to GREEN
gene: GPC4 was marked as current diagnostic
Added comment: >3 unrelated individuals reported, functional studies in mice
Sources: Literature
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Marked gene: TBX3 as ready
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Gene: tbx3 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Classified gene: TBX3 as Green List (high evidence)
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Gene: tbx3 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.16 TBX3 Zornitza Stark gene: TBX3 was added
gene: TBX3 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX3 were set to Ulnar-mammary syndrome, MIM# 181450
Review for gene: TBX3 was set to GREEN
Added comment: VSD and WPW described.
Sources: Expert list
Mendeliome v0.830 KDM3B Alison Yeung Marked gene: KDM3B as ready
Mendeliome v0.830 KDM3B Alison Yeung Gene: kdm3b has been classified as Green List (High Evidence).
Mendeliome v0.830 KDM3B Alison Yeung Classified gene: KDM3B as Green List (high evidence)
Mendeliome v0.830 KDM3B Alison Yeung Gene: kdm3b has been classified as Green List (High Evidence).
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Marked gene: TBX2 as ready
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Classified gene: TBX2 as Amber List (moderate evidence)
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Marked gene: LEMD2 as ready
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Classified gene: LEMD2 as Amber List (moderate evidence)
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Classified gene: LEMD2 as Amber List (moderate evidence)
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.14 TBX2 Zornitza Stark gene: TBX2 was added
gene: TBX2 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX2 were set to 29726930
Phenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223
Review for gene: TBX2 was set to AMBER
Added comment: Two families reported; congenital heart disease is part of the phenotype.
Sources: Expert list
Mendeliome v0.828 LEMD2 Alison Yeung gene: LEMD2 was added
gene: LEMD2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LEMD2 were set to PMID: 30905398
Phenotypes for gene: LEMD2 were set to progeroid disorder
Review for gene: LEMD2 was set to AMBER
Added comment: two reported unrelated individuals, limited functional evidence
Sources: Literature
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Marked gene: ROBO1 as ready
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Classified gene: ROBO1 as Green List (high evidence)
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.12 ROBO1 Zornitza Stark gene: ROBO1 was added
gene: ROBO1 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO1 were set to 28592524
Phenotypes for gene: ROBO1 were set to Tetralogy of Fallot; septal defects
Review for gene: ROBO1 was set to GREEN
Added comment: Three families reported and a mouse model. Note mono allelic and bi-allelic variants in this gene also linked with pituitary abnormalities.
Sources: Expert list
Mendeliome v0.827 PLD1 Zornitza Stark Marked gene: PLD1 as ready
Mendeliome v0.827 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.827 PLD1 Zornitza Stark Phenotypes for gene: PLD1 were changed from to Cardiac valvular defect, developmental, MIM# 212093
Mendeliome v0.826 PLD1 Zornitza Stark Publications for gene: PLD1 were set to
Mendeliome v0.825 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Mendeliome v0.825 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.825 PLD1 Zornitza Stark Mode of inheritance for gene: PLD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.824 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Mendeliome v0.824 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.823 PLD1 Zornitza Stark Classified gene: PLD1 as Amber List (moderate evidence)
Mendeliome v0.823 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.65 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Ciliopathies v0.65 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.822 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Ciliopathies v0.65 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.65 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Ciliopathies v0.64 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.64 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Marked gene: PLD1 as ready
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Classified gene: PLD1 as Amber List (moderate evidence)
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.64 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.64 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.10 PLD1 Zornitza Stark gene: PLD1 was added
gene: PLD1 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD1 were set to 27799408
Phenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM# 212093
Review for gene: PLD1 was set to AMBER
Added comment: Four individuals from two families reported.
Sources: Expert list
Ciliopathies v0.63 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Congenital Heart Defect v0.9 NONO Zornitza Stark Marked gene: NONO as ready
Congenital Heart Defect v0.9 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.9 NONO Zornitza Stark Classified gene: NONO as Green List (high evidence)
Congenital Heart Defect v0.9 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.8 NONO Zornitza Stark gene: NONO was added
gene: NONO was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NONO were set to 26571461; 27329731; 27550220
Phenotypes for gene: NONO were set to Mental retardation, X-linked, syndromic 34, MIM# 300967
Review for gene: NONO was set to GREEN
Added comment: Structural heart defects and cardiomyopathy are features of this syndromic disorder.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.11 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Joubert syndrome and other cerebellar malformations. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Marked gene: MYOCD as ready
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Classified gene: MYOCD as Green List (high evidence)
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital Heart Defect v0.6 MYOCD Zornitza Stark gene: MYOCD was added
gene: MYOCD was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: MYOCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy
Review for gene: MYOCD was set to GREEN
Added comment: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease).
Sources: Literature
Mendeliome v0.821 CARS Alison Yeung Marked gene: CARS as ready
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.821 CARS Alison Yeung Classified gene: CARS as Green List (high evidence)
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.820 CARS Alison Yeung gene: CARS was added
gene: CARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to PMID: 30824121
Phenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails
Added comment: Three reported unrelated families
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Marked gene: CARS as ready
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Classified gene: CARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Ataxia v0.47 WDPCP Bryony Thompson Marked gene: WDPCP as ready
Ataxia v0.47 WDPCP Bryony Thompson Gene: wdpcp has been classified as Red List (Low Evidence).
Ataxia v0.47 WDPCP Bryony Thompson gene: WDPCP was added
gene: WDPCP was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Review for gene: WDPCP was set to RED
Added comment: Ataxia not a reported phenotypic feature associated with this gene.`
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1607 CARS Alison Yeung gene: CARS was added
gene: CARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to PMID: 30824121
Phenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails
Review for gene: CARS was set to GREEN
gene: CARS was marked as current diagnostic
Added comment: Three reported unrelated families
Sources: Literature
Ataxia v0.46 VRK1 Bryony Thompson gene: VRK1 was added
gene: VRK1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596
Review for gene: VRK1 was set to RED
Added comment: Ataxia can be a feature of the phenotype. Biallelic variants cause pontocerebellar hypoplasia and death before age 12, thus not a relevant gene for testing in an adult hospital.
Sources: Expert list
Ataxia v0.45 TTI1 Bryony Thompson Marked gene: TTI1 as ready
Ataxia v0.45 TTI1 Bryony Thompson Gene: tti1 has been classified as Red List (Low Evidence).
Ataxia v0.45 TTI1 Bryony Thompson gene: TTI1 was added
gene: TTI1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TTI1 was set to Unknown
Review for gene: TTI1 was set to RED
Added comment: No reported association with ataxia.
Sources: Expert list
Ataxia v0.44 TTC8 Bryony Thompson gene: TTC8 was added
gene: TTC8 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985
Review for gene: TTC8 was set to RED
Added comment: Ataxia is not a reported feature of this subtype of BBS
Sources: Expert list
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Mendeliome v0.818 MAPK8IP3 Zornitza Stark gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
Added comment: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.231 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Ataxia v0.43 TSEN34 Bryony Thompson gene: TSEN34 was added
gene: TSEN34 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to ?Pontocerebellar hypoplasia type 2C, 612390
Review for gene: TSEN34 was set to RED
Added comment: No publications associated with ataxia, and ataxia is not a prominent feature of the condition.
Sources: Expert list
Ataxia v0.42 TSEN2 Bryony Thompson gene: TSEN2 was added
gene: TSEN2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389
Review for gene: TSEN2 was set to RED
Added comment: Ataxia is not a prominent feature of this phenotype.
Sources: Expert list
Ataxia v0.41 TRIM32 Bryony Thompson gene: TRIM32 was added
gene: TRIM32 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988
Review for gene: TRIM32 was set to RED
Added comment: Ataxia is not a reported feature associated with this gene.
Sources: Expert list
Ataxia v0.40 SVBP Bryony Thompson Classified gene: SVBP as Green List (high evidence)
Ataxia v0.40 SVBP Bryony Thompson Gene: svbp has been classified as Green List (High Evidence).
Ataxia v0.39 SVBP Bryony Thompson gene: SVBP was added
gene: SVBP was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
Review for gene: SVBP was set to GREEN
Added comment: Ataxia is a prominent feature of the phenotype for this condition.
Sources: Expert list
Ataxia v0.38 SNAP25 Bryony Thompson Marked gene: SNAP25 as ready
Ataxia v0.38 SNAP25 Bryony Thompson Gene: snap25 has been classified as Green List (High Evidence).
Ataxia v0.38 SNAP25 Bryony Thompson Classified gene: SNAP25 as Green List (high evidence)
Ataxia v0.38 SNAP25 Bryony Thompson Gene: snap25 has been classified as Green List (High Evidence).
Ataxia v0.37 SNAP25 Bryony Thompson gene: SNAP25 was added
gene: SNAP25 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNAP25 were set to 29491473; 25381298; 17283335
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330; cerebellar ataxia and seizures
Review for gene: SNAP25 was set to GREEN
Added comment: Phenotype in 3 reported cases and mouse model includes ataxia as a feature.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1605 MAPK8IP3 Alison Yeung gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
gene: MAPK8IP3 was marked as current diagnostic
Added comment: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Marked gene: NCAPG2 as ready
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Classified gene: NCAPG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1603 NCAPG2 Alison Yeung Classified gene: NCAPG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1603 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1602 NCAPG2 Alison Yeung gene: NCAPG2 was added
gene: NCAPG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460
Review for gene: NCAPG2 was set to GREEN
Added comment: Two families and functional evidence (zebrafish model).
Sources: Literature
Ataxia v0.36 SAR1B Bryony Thompson gene: SAR1B was added
gene: SAR1B was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700
Review for gene: SAR1B was set to RED
Added comment: Ataxia is not a reported prominent feature of the condition. Neurological symptoms are secondary to malabsorption.
Sources: Expert list
Mendeliome v0.817 NCAPG2 Zornitza Stark Marked gene: NCAPG2 as ready
Mendeliome v0.817 NCAPG2 Zornitza Stark Gene: ncapg2 has been classified as Green List (High Evidence).
Mendeliome v0.817 NCAPG2 Zornitza Stark Classified gene: NCAPG2 as Green List (high evidence)
Mendeliome v0.817 NCAPG2 Zornitza Stark Gene: ncapg2 has been classified as Green List (High Evidence).
Mendeliome v0.816 NCAPG2 Zornitza Stark gene: NCAPG2 was added
gene: NCAPG2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460
Review for gene: NCAPG2 was set to GREEN
Added comment: Two families and functional evidence (zebrafish model).
Sources: Literature
Mendeliome v0.815 ADAMTS9 Zornitza Stark Marked gene: ADAMTS9 as ready
Mendeliome v0.815 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Mendeliome v0.815 ADAMTS9 Zornitza Stark Classified gene: ADAMTS9 as Green List (high evidence)
Mendeliome v0.815 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Mendeliome v0.814 ADAMTS9 Zornitza Stark gene: ADAMTS9 was added
gene: ADAMTS9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Review for gene: ADAMTS9 was set to GREEN
Added comment: Two families reported with functional evidence
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Zornitza Stark Marked gene: ADAMTS9 as ready
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Alison Yeung Classified gene: ADAMTS9 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Alison Yeung Gene: adamts9 has been classified as Green List (High Evidence).
Ataxia v0.35 RARS2 Bryony Thompson gene: RARS2 was added
gene: RARS2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS2 were set to 31429931
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; early onset cerebellar ataxia
Review for gene: RARS2 was set to RED
Added comment: Ataxia is not a prominent feature of PCH. A homozygous putative pathogenic variant has been identified in one family with early onset cerebellar ataxia.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.95 ADAMTS9 Alison Yeung gene: ADAMTS9 was added
gene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to PMID:30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Penetrance for gene: ADAMTS9 were set to unknown
Review for gene: ADAMTS9 was set to GREEN
gene: ADAMTS9 was marked as current diagnostic
Added comment: Two families reported with functional evidence
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.95 ADAMTS9 Alison Yeung gene: ADAMTS9 was added
gene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to PMID:30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Penetrance for gene: ADAMTS9 were set to unknown
Review for gene: ADAMTS9 was set to GREEN
gene: ADAMTS9 was marked as current diagnostic
Added comment: Two families reported with functional evidence
Sources: Literature
Ataxia v0.34 KCNQ2 Bryony Thompson Classified gene: KCNQ2 as Amber List (moderate evidence)
Ataxia v0.34 KCNQ2 Bryony Thompson Gene: kcnq2 has been classified as Amber List (Moderate Evidence).
Ataxia v0.33 KCNQ2 Bryony Thompson reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22169383, 20962009, 10575255; Phenotypes: Early infantile epileptic encephalopathy 7, MIM#613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ataxia v0.33 Bryony Thompson removed gene:CAPN1 from the panel
Ataxia v0.32 PNKD Bryony Thompson Classified gene: PNKD as Green List (high evidence)
Ataxia v0.32 PNKD Bryony Thompson Gene: pnkd has been classified as Green List (High Evidence).
Ataxia v0.31 PNKD Bryony Thompson gene: PNKD was added
gene: PNKD was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PNKD were set to Paroxysmal nonkinesigenic dyskinesia 1, 118800
Review for gene: PNKD was set to GREEN
Added comment: Condition has many overlapping features with episodic ataxia.
Sources: Expert list
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Classified gene: SLC52A3 as Green List (high evidence)
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Central Hypoventilation v0.5 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Central Hypoventilation. Sources: Expert list
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Review for gene: SLC52A3 was set to GREEN
Added comment: Although this condition does not cause central hypoventilation, it can present with hypoventilation due to phrenic nerve palsy, and as it is treatable, it has been included in this panel.
Sources: Expert list
Proteinuria v0.101 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Haematuria_Alport v0.28 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.63 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from Branchiooculofacial syndrome, MIM# 113620 to Branchiooculofacial syndrome, MIM# 113620
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.62 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.62 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.62 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM# 113620
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.62 TFAP2A Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.61 TFAP2A Zornitza Stark reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.61 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.61 CTU2 Zornitza Stark Marked gene: CTU2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.61 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.61 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.60 CTU2 Zornitza Stark Publications for gene: CTU2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.60 CTU2 Zornitza Stark Mode of inheritance for gene: CTU2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.59 KIF14 Zornitza Stark Marked gene: KIF14 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.59 KIF14 Zornitza Stark Gene: kif14 has been classified as Green List (High Evidence).
Haematuria_Alport v0.27 CFHR5 Zornitza Stark Publications for gene: CFHR5 were set to 30844074; 30197990; 24067434; 21566112; 20800271; 27490940; 24334459
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Mode of inheritance for gene: CFHR5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Marked gene: CFHR5 as ready
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Gene: cfhr5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Publications for gene: CFHR5 were set to
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.25 CFHR5 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR5.
Haematuria_Alport v0.25 CFHR5 Zornitza Stark edited their review of gene: CFHR5: Added comment: Review provided by Danny Gale (UCL):

4 independent mutations described in >30 families (most with one mutation that is endemic in people of Cypriot ancestry) causing haematuria and C3 glomerulopathy. Pathogenic mutations result in duplications of exons 2 and 3 of CFHR5, or a CFHR5-CFHR2 hybrid elongated gene to be produced. Other mutations (eg missense or truncating mutations) have NOT been robustly linked with disease and are probably not pathogenic: the disease is caused by a gain-of-function mechanism.; Changed rating: GREEN; Changed publications: 30844074, 30197990, 24067434, 21566112, 20800271, 27490940, 24334459; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.813 RIC1 Zornitza Stark Marked gene: RIC1 as ready
Mendeliome v0.813 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.813 RIC1 Zornitza Stark Classified gene: RIC1 as Amber List (moderate evidence)
Mendeliome v0.813 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.812 RIC1 Zornitza Stark gene: RIC1 was added
gene: RIC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 31932796
Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD
Review for gene: RIC1 was set to AMBER
Added comment: Zebrafish model and consanguineous families but homozygous-by-descent.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Marked gene: RIC1 as ready
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Classified gene: RIC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1600 RIC1 Zornitza Stark gene: RIC1 was added
gene: RIC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 31932796
Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD
Review for gene: RIC1 was set to AMBER
Added comment: Zebrafish model and consanguineous families but homozygous-by-descent.
Sources: Literature
Arthrogryposis v0.19 TBCD Zornitza Stark Marked gene: TBCD as ready
Arthrogryposis v0.19 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Arthrogryposis v0.19 TBCD Zornitza Stark Classified gene: TBCD as Green List (high evidence)
Arthrogryposis v0.19 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Microcephaly v0.72 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Microcephaly v0.72 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Mendeliome v0.811 BICC1 Zornitza Stark Marked gene: BICC1 as ready
Mendeliome v0.811 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Mendeliome v0.811 BICC1 Zornitza Stark Phenotypes for gene: BICC1 were changed from to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Mendeliome v0.810 BICC1 Zornitza Stark Publications for gene: BICC1 were set to
Mendeliome v0.809 BICC1 Zornitza Stark Classified gene: BICC1 as Red List (low evidence)
Mendeliome v0.809 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Mendeliome v0.808 BNC2 Zornitza Stark Marked gene: BNC2 as ready
Mendeliome v0.808 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Mendeliome v0.808 BNC2 Zornitza Stark Classified gene: BNC2 as Green List (high evidence)
Mendeliome v0.808 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Mendeliome v0.807 BNC2 Zornitza Stark gene: BNC2 was added
gene: BNC2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC2 were set to 31656805; 31051115
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612
Review for gene: BNC2 was set to GREEN
gene: BNC2 was marked as current diagnostic
Added comment: At least four unrelated families reported.
Sources: Expert list
Mendeliome v0.806 SIX2 Zornitza Stark Marked gene: SIX2 as ready
Mendeliome v0.806 SIX2 Zornitza Stark Added comment: Comment when marking as ready: Single family reported.
Mendeliome v0.806 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Mendeliome v0.806 SIX2 Zornitza Stark Phenotypes for gene: SIX2 were changed from to CAKUT
Mendeliome v0.805 SIX2 Zornitza Stark Publications for gene: SIX2 were set to
Mendeliome v0.804 SIX2 Zornitza Stark Mode of inheritance for gene: SIX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.803 SIX2 Zornitza Stark Classified gene: SIX2 as Red List (low evidence)
Mendeliome v0.803 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Ataxia v0.30 PCYT2 Bryony Thompson gene: PCYT2 was added
gene: PCYT2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy
Review for gene: PCYT2 was set to RED
Added comment: Ataxia is not a prominent feature of the condition.
Sources: Expert list
Mendeliome v0.802 SRGAP1 Zornitza Stark Marked gene: SRGAP1 as ready
Mendeliome v0.802 SRGAP1 Zornitza Stark Added comment: Comment when marking as ready: Two families reported.
Mendeliome v0.802 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.802 SRGAP1 Zornitza Stark Publications for gene: SRGAP1 were set to
Mendeliome v0.801 SRGAP1 Zornitza Stark Mode of inheritance for gene: SRGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.800 SRGAP1 Zornitza Stark Phenotypes for gene: SRGAP1 were changed from to CAKUT
Mendeliome v0.799 SRGAP1 Zornitza Stark Classified gene: SRGAP1 as Amber List (moderate evidence)
Mendeliome v0.799 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.59 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.59 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.59 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from to CAKUT
Ataxia v0.29 MKKS Bryony Thompson Classified gene: MKKS as Amber List (moderate evidence)
Ataxia v0.29 MKKS Bryony Thompson Gene: mkks has been classified as Amber List (Moderate Evidence).
Ataxia v0.28 MKKS Bryony Thompson Marked gene: MKKS as ready
Ataxia v0.28 MKKS Bryony Thompson Gene: mkks has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.58 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Ataxia v0.28 MKKS Bryony Thompson gene: MKKS was added
gene: MKKS was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKKS were set to 15637713
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, 605231
Review for gene: MKKS was set to AMBER
Added comment: Ataxia is not reported as a prominent feature of the phenotype. However, ataxia has been reported in at least 1 case with BBS6. There were four BBS6 cases reported in the publication, and 18/21 BBS cases had ataxia, therefore it is unknown if all 4 cases had ataxia.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.58 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.57 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.57 DACT1 Zornitza Stark Added comment: Comment when marking as ready: Changed to Red after review against GEL gene-disease assessment.
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.57 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.57 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to 3812577; 10069707; 23059950; 9678700
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.57 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome; OMIM #270400 to Smith-Lemli-Opitz syndrome; OMIM #270400
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.57 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome; OMIM #270400 to Smith-Lemli-Opitz syndrome; OMIM #270400
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.56 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.56 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.56 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome; OMIM #270400
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.56 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.56 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.55 FGF10 Zornitza Stark Phenotypes for gene: FGF10 were changed from LADD syndrome; OMIM #149730 to LADD syndrome; OMIM #149730
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.54 FGF10 Zornitza Stark Marked gene: FGF10 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.54 FGF10 Zornitza Stark Gene: fgf10 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.54 FGF10 Zornitza Stark Phenotypes for gene: FGF10 were changed from to LADD syndrome; OMIM #149730
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.54 FGF10 Zornitza Stark Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.53 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400 to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.54 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to 15523639
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.53 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.53 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.53 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.53 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.52 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.52 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.51 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from SALL4- related disorders to SALL4- related disorders
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.51 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.51 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.51 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from to SALL4- related disorders
Ataxia v0.27 EXOSC3 Bryony Thompson Marked gene: EXOSC3 as ready
Ataxia v0.27 EXOSC3 Bryony Thompson Gene: exosc3 has been classified as Red List (Low Evidence).
Ataxia v0.27 EXOSC3 Bryony Thompson changed review comment from: Ataxia is not a prominent feature of the phenotype
Sources: Expert list; to: Ataxia is not a prominent feature of the phenotype
Sources: Expert list
Ataxia v0.27 EXOSC3 Bryony Thompson gene: EXOSC3 was added
gene: EXOSC3 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678
Added comment: Ataxia is not a prominent feature of the phenotype
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.50 SALL4 Zornitza Stark Publications for gene: SALL4 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.50 SALL4 Zornitza Stark Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v0.26 ELOVL1 Bryony Thompson gene: ELOVL1 was added
gene: ELOVL1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527
Review for gene: ELOVL1 was set to RED
Added comment: Ataxia is not a prominent feature of this condition.
Sources: Expert list
Ataxia v0.25 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030
Added comment: Ataxia is not a prominent feature of the phenotype
Sources: Expert list
Ataxia v0.24 COQ5 Bryony Thompson gene: COQ5 was added
gene: COQ5 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 29044765
Phenotypes for gene: COQ5 were set to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Review for gene: COQ5 was set to RED
Added comment: Only one reported family, without functional assays linking the gene to ataxia.
Sources: Expert list
Ataxia v0.23 CHMP1A Bryony Thompson gene: CHMP1A was added
gene: CHMP1A was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia, type 8, 614961
Review for gene: CHMP1A was set to RED
Added comment: Ataxia is not a prominent feature of the phenotype.
Sources: Expert list
Microcephaly v0.72 PCDH12 Tiong Tan Classified gene: PCDH12 as Green List (high evidence)
Microcephaly v0.72 PCDH12 Tiong Tan Gene: pcdh12 has been classified as Green List (High Evidence).
Ataxia v0.22 CCDC28B Bryony Thompson gene: CCDC28B was added
gene: CCDC28B was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900
Review for gene: CCDC28B was set to RED
Added comment: Modifier of BBS
Sources: Expert list
Ataxia v0.21 BBS9 Bryony Thompson gene: BBS9 was added
gene: BBS9 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986
Review for gene: BBS9 was set to RED
Added comment: Ataxia is not a reported feature of the phenotype for this subtype of BBS.
Sources: Expert list
Ataxia v0.20 BBS7 Bryony Thompson gene: BBS7 was added
gene: BBS7 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984
Review for gene: BBS7 was set to RED
Added comment: Ataxia is not a reported feature of the phenotype of this subtype of BBS.
Sources: Expert list
Ataxia v0.19 BBS5 Bryony Thompson gene: BBS5 was added
gene: BBS5 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS5 were set to 15637713
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983
Review for gene: BBS5 was set to RED
Added comment: Ataxia is not a common feature reported with this subtype of BBS. One family with linkage to BBS5 (not sequenced) has been reported with ataxia.
Sources: Expert list
Ataxia v0.18 BBS4 Bryony Thompson gene: BBS4 was added
gene: BBS4 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982
Review for gene: BBS4 was set to RED
Added comment: Ataxia is not a reported feature of the phenotype of this subtype of BBS.
Sources: Expert list
Ataxia v0.17 BBS2 Bryony Thompson gene: BBS2 was added
gene: BBS2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS2 were set to 15637713
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981
Review for gene: BBS2 was set to RED
Added comment: Ataxia is not a reported common feature of this subtype of BBS. Ataxia may be present in one family with BBS2, but not stated outright in the publication (18/21 families had ataxia and there was only one BBS2 family).
Sources: Expert list
Ataxia v0.16 BBS12 Bryony Thompson gene: BBS12 was added
gene: BBS12 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989
Added comment: Ataxia is not a reported feature of the phenotype.
Sources: Expert list
Ataxia v0.15 BBS10 Bryony Thompson gene: BBS10 was added
gene: BBS10 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987
Review for gene: BBS10 was set to RED
Added comment: Ataxia is not a reported feature of condition. Only reported as a common feature of BBS1.
Sources: Expert list
Microcephaly v0.71 PCDH12 Tiong Tan gene: PCDH12 was added
gene: PCDH12 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683; 22822038
Phenotypes for gene: PCDH12 were set to DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1
Penetrance for gene: PCDH12 were set to Complete
Review for gene: PCDH12 was set to GREEN
Added comment: Sources: Literature
Ataxia v0.14 ARL6 Bryony Thompson Marked gene: ARL6 as ready
Ataxia v0.14 ARL6 Bryony Thompson Gene: arl6 has been classified as Red List (Low Evidence).
Ataxia v0.14 ARL6 Bryony Thompson gene: ARL6 was added
gene: ARL6 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151
Review for gene: ARL6 was set to RED
Added comment: Ataxia is not a reported feature of condition. Only reported as a common feature of BBS1.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.49 SIX1 Zornitza Stark Phenotypes for gene: SIX1 were changed from Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192 to Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.49 SIX1 Zornitza Stark Marked gene: SIX1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.49 SIX1 Zornitza Stark Gene: six1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.49 SIX1 Zornitza Stark Phenotypes for gene: SIX1 were changed from to Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192
Ataxia v0.13 AMPD2 Bryony Thompson Marked gene: AMPD2 as ready
Ataxia v0.13 AMPD2 Bryony Thompson Gene: ampd2 has been classified as Red List (Low Evidence).
Ataxia v0.13 AMPD2 Bryony Thompson gene: AMPD2 was added
gene: AMPD2 was added to Ataxia - paediatric_RMH. Sources: Other
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809
Review for gene: AMPD2 was set to RED
Added comment: Ataxia is not a reported feature of this condition.
Sources: Other
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.48 SALL4 Chirag Patel reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301547; Phenotypes: SALL4- related disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.48 SIX1 Zornitza Stark Mode of inheritance for gene: SIX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.47 SIX1 Zornitza Stark Classified gene: SIX1 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.47 SIX1 Zornitza Stark Gene: six1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.46 SIX1 Zornitza Stark reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM#608389, Deafness, autosomal dominant 23, MIM# 605192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.46 FAM58A Zornitza Stark Marked gene: FAM58A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.46 FAM58A Zornitza Stark Gene: fam58a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.46 MYOCD Chirag Patel reviewed gene: MYOCD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31513549; Phenotypes: Megabladder, congenital heart disease, cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia v0.12 BBS1 Bryony Thompson Marked gene: BBS1 as ready
Ataxia v0.12 BBS1 Bryony Thompson Gene: bbs1 has been classified as Green List (High Evidence).
Ataxia v0.12 BBS1 Bryony Thompson Classified gene: BBS1 as Green List (high evidence)
Ataxia v0.12 BBS1 Bryony Thompson Gene: bbs1 has been classified as Green List (High Evidence).
Ataxia v0.11 BBS1 Bryony Thompson gene: BBS1 was added
gene: BBS1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS1 were set to 15637713
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900
Review for gene: BBS1 was set to GREEN
Added comment: Ataxia is a common feature of the phenotype
Sources: Expert list
Ataxia v0.10 ZNF423 Bryony Thompson Marked gene: ZNF423 as ready
Ataxia v0.10 ZNF423 Bryony Thompson Gene: znf423 has been classified as Red List (Low Evidence).
Ataxia v0.10 ZNF423 Bryony Thompson Classified gene: ZNF423 as Red List (low evidence)
Ataxia v0.10 ZNF423 Bryony Thompson Gene: znf423 has been classified as Red List (Low Evidence).
Ataxia v0.9 ZNF423 Bryony Thompson reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 19, 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.46 FOXC2 Chirag Patel Classified gene: FOXC2 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.46 FOXC2 Chirag Patel Gene: foxc2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FOXC2 Chirag Patel Deleted their comment
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FOXC2 Chirag Patel Deleted their comment
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FOXC2 Chirag Patel commented on gene: FOXC2: 1 German-Irish family in which 6 affected members spanning 3 generations had lymphedema-distichiasis syndrome, and a 1-bp insertion in the FOXC2 gene. Four of the affected members also had renal disease, and 3 had type II diabetes mellitus, features not usually seen in lymphedema-distichiasis syndrome. The oldest affected member of the family was 73 years old at the time of report and was on chronic renal dialysis. One of her sons, aged 45 years, had developed proteinuria at age 32 years. Renal biopsy showed chronic sclerosing glomerulopathy and chronic tubulointerstitial nephritis. One member of the family underwent renal transplantation and, shortly thereafter, pancreatic transplantation, both with excellent results. She was 36 years old at the time of report and had distichiasis but no lymphedema.
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FOXC2 Chirag Patel commented on gene: FOXC2: 1 German-Irish family in which 6 affected members spanning 3 generations had lymphedema-distichiasis syndrome, and a 1-bp insertion in the FOXC2 gene. Four of the affected members also had renal disease, and 3 had type II diabetes mellitus, features not usually seen in lymphedema-distichiasis syndrome. The oldest affected member of the family was 73 years old at the time of report and was on chronic renal dialysis. One of her sons, aged 45 years, had developed proteinuria at age 32 years. Renal biopsy showed chronic sclerosing glomerulopathy and chronic tubulointerstitial nephritis. One member of the family underwent renal transplantation and, shortly thereafter, pancreatic transplantation, both with excellent results. She was 36 years old at the time of report and had distichiasis but no lymphedema.
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FOXC2 Chirag Patel reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15523639; Phenotypes: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, OMIM #153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.44 FGFR3 Chirag Patel Deleted their comment
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.44 FAM58A Zornitza Stark Phenotypes for gene: FAM58A were changed from to STAR syndrome, MIM# 300707
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.44 FGFR2 Zornitza Stark Classified gene: FGFR2 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.44 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.43 FGFR3 Chirag Patel commented on gene: FGFR3: Not a prominent features of FGFR3 related disorders
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.43 FGFR3 Chirag Patel reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.43 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.43 FAM58A Zornitza Stark Publications for gene: FAM58A were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.43 FAM58A Zornitza Stark Mode of inheritance for gene: FAM58A was changed from Other to Other
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.42 FGF10 Chirag Patel Classified gene: FGF10 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.42 FGF10 Chirag Patel Gene: fgf10 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.42 FGF10 Chirag Patel Classified gene: FGF10 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.42 FGF10 Chirag Patel Gene: fgf10 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.41 FGF10 Chirag Patel reviewed gene: FGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: LADD syndrome, OMIM #149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.41 FAM58A Zornitza Stark Mode of inheritance for gene: FAM58A was changed from Unknown to Other
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.40 FAM58A Zornitza Stark reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28225384, 18297069; Phenotypes: STAR syndrome, MIM# 300707; Mode of inheritance: Other
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.40 DHCR7 Chirag Patel reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 3812577, 10069707, 23059950, 9678700; Phenotypes: Smith-Lemli-Opitz syndrome, OMIM #270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.40 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.40 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.40 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.40 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.40 DACT1 Zornitza Stark Classified gene: DACT1 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.40 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.40 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.40 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.39 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.39 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.39 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.39 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.38 COQ7 Chirag Patel changed review comment from: only one patient with mito disease and happened to have hypoplastic kidneys.; to: only 2 patients reported
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.38 COQ7 Chirag Patel Classified gene: COQ7 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.38 COQ7 Chirag Patel Gene: coq7 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.37 COQ7 Chirag Patel reviewed gene: COQ7: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 26084283; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8, OMIM #616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.37 BMP4 Chirag Patel reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30568244, 24131739, 23641053, 19685083; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.16 TBCD Tiong Tan gene: TBCD was added
gene: TBCD was added to Arthrogryposis. Sources: Literature
umccr tags were added to gene: TBCD.
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCD were set to 27666370; 27666374
Phenotypes for gene: TBCD were set to ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
Penetrance for gene: TBCD were set to Complete
Review for gene: TBCD was set to GREEN
Added comment: Sources: Literature
Arthrogryposis v0.16 TBCD Tiong Tan gene: TBCD was added
gene: TBCD was added to Arthrogryposis. Sources: Literature
umccr tags were added to gene: TBCD.
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCD were set to 27666370; 27666374
Phenotypes for gene: TBCD were set to ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
Penetrance for gene: TBCD were set to Complete
Review for gene: TBCD was set to GREEN
Added comment: Sources: Literature
Complement Deficiencies v0.7 Zornitza Stark Panel name changed from Complement deficiencies to Complement Deficiencies
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Combined Immunodeficiency v0.38 Zornitza Stark Panel name changed from Combined immunodeficiency to Combined Immunodeficiency
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Cobblestone Malformations v0.2 Zornitza Stark Panel name changed from Cobblestone malformations to Cobblestone Malformations
Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Ciliopathies v0.62 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Ciliary Dyskinesia v0.8 Zornitza Stark Panel name changed from Ciliary dyskinesia to Ciliary Dyskinesia
Ciliary Dyskinesia v0.7 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Chromosome Breakage Disorders v0.8 Zornitza Stark Panel name changed from Chromosome breakage disorders to Chromosome Breakage Disorders
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.798 TET3 Zornitza Stark Marked gene: TET3 as ready
Mendeliome v0.798 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Mendeliome v0.798 TET3 Zornitza Stark Classified gene: TET3 as Green List (high evidence)
Mendeliome v0.798 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Mendeliome v0.797 TET3 Zornitza Stark gene: TET3 was added
gene: TET3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to 31928709
Phenotypes for gene: TET3 were set to Intellectual disability; dysmorphic features; abnormal growth; movement disorders
Review for gene: TET3 was set to GREEN
Added comment: Eleven individuals from 8 families described. Mono-allelic frameshift and nonsense variants occur throughout the coding region. Mono-allelic and bi-allelic missense variants localize to conserved residues; all but one such variant occur within the catalytic domain, and most display hypomorphic function in an assay of catalytic activity.
Sources: Literature
Mendeliome v0.796 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Marked gene: TET3 as ready
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Classified gene: TET3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1598 TET3 Zornitza Stark gene: TET3 was added
gene: TET3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to 31928709
Phenotypes for gene: TET3 were set to Intellectual disability; dysmorphic features; abnormal growth; movement disorders
Review for gene: TET3 was set to GREEN
Added comment: Eleven individuals from 8 families described. Mono-allelic frameshift and nonsense variants occur throughout the coding region. Mono-allelic and bi-allelic missense variants localize to conserved residues; all but one such variant occur within the catalytic domain, and most display hypomorphic function in an assay of catalytic activity.
Sources: Literature
Cholestasis v0.3 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Brain Channelopathies v0.5 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cerebral Palsy v0.10 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cerebellar and Pontocerebellar Hypoplasia v0.9 Zornitza Stark Panel name changed from Cerebellar and Pontocerebellar hypoplasia to Cerebellar and Pontocerebellar Hypoplasia
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Central Hypoventilation v0.4 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Catecholaminergic Polymorphic Ventricular Tachycardia v0.3 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cardiomyopathy_Adult_SuperPanel v0.19 Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Rare Disease
Lissencephaly and Band Heterotopia v0.10 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Lissencephaly and Band Heterotopia v0.9 Zornitza Stark Panel name changed from Lissencephaly and band heterotopia to Lissencephaly and Band Heterotopia
Renal Tubulointerstitial Disease v0.9 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Renal Macrocystic Disease v0.19 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Renal Ciliopathies and Nephronophthisis v0.94 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Cancer Predisposition_Paediatric v0.10 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Callosome v0.57 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Brugada syndrome v0.4 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Brain Calcification v0.14 Zornitza Stark Panel name changed from Brain calcification to Brain Calcification
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Bone Marrow Failure v0.23 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Blepharophimosis v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Bleeding and Platelet Disorders v0.4 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Bardet Biedl syndrome v0.19 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Autism v0.38 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Atypical Haemolytic Uraemic Syndrome_MPGN v0.28 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease
Atrial Fibrillation v0.2 Zornitza Stark Panel name changed from Atrial fibrillation to Atrial Fibrillation
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Arthrogryposis v0.15 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Arrhythmogenic Cardiomyopathy v0.3 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Arrhythmia_SuperPanel v0.13 Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Rare Disease
Aortopathy_Connective Tissue Disorders v0.11 Zornitza Stark Panel name changed from Aortopathy_Connective tissue disorders to Aortopathy_Connective Tissue Disorders
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Anophthalmia_Microphthalmia_Coloboma v0.40 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Angelman Rett like syndromes v0.5 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Alternating Hemiplegia and Hemiplegic Migraine v0.7 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Alagille syndrome v0.3 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Severe Combined Immunodeficiency v0.6 Sebastian Lunke Panel name changed from Severe Combined Immunodeficiency (absent T, present B cells) to Severe Combined Immunodeficiency (absent T present B cells)
Intellectual disability syndromic and non-syndromic v0.1596 Sebastian Lunke Panel name changed from Intellectual disability, syndromic and non-syndromic to Intellectual disability syndromic and non-syndromic
Alternating Hemiplegia and Hemiplegic Migraine v0.6 Zornitza Stark Panel name changed from Alternating hemiplegia including hemiplegic migraine to Alternating Hemiplegia and Hemiplegic Migraine
Lysosomal Storage Disorder v0.1 Zornitza Stark Panel name changed from Storage Disorder_VCGS to Storage Disorder
Panel types changed to Victorian Clinical Genetics Services
Skeletal Dysplasia_Fetal v0.12 Zornitza Stark Panel name changed from Skeletal dysplasia Fetal_MelbourneGenomics_VCGS to Skeletal Dysplasia_Fetal
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Skeletal dysplasia v0.6 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services
Skeletal Ciliopathies v0.10 Zornitza Stark Panel name changed from Short Rib Polydactyly, Jeune Asphyxiating Thoracic Dystrophy_VCGS to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy
Panel types changed to Victorian Clinical Genetics Services
Short QT syndrome v0.1 Zornitza Stark Panel name changed from Short QT syndrome_VCGS to Short QT syndrome
Panel types changed to Victorian Clinical Genetics Services
Severe Combined Immunodeficiency v0.5 Zornitza Stark Panel name changed from Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS to Severe Combined Immunodeficiency (absent T, present B cells)
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Renal Tubulointerstitial Disease v0.8 Zornitza Stark Panel name changed from Renal tubulointerstitial disease_KidGen_VCGS to Renal Tubulointerstitial Disease
Panel types changed to Victorian Clinical Genetics Services; KidGen
Renal Macrocystic Disease v0.18 Zornitza Stark Panel name changed from Renal macrocystic disease_KidGen_VCGS to Renal Macrocystic Disease
Panel types changed to Victorian Clinical Genetics Services; KidGen
Hypertension and Aldosterone disorders v0.2 Zornitza Stark Panel name changed from Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS to Renal Hypertension and Disorders of Aldosterone Metabolism
Panel types changed to Victorian Clinical Genetics Services; KidGen
Renal Glomerular Disease_SuperPanel v0.149 Zornitza Stark Panel name changed from Renal glomerular disease_SuperPanel_VCGS_KidGen to Renal Glomerular Disease_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen
Renal Cystic Disease_SuperPanel v0.104 Zornitza Stark Panel name changed from Renal cystic disease_SuperPanel_KidGen_VCGS to Renal Cystic Disease_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen
Renal Ciliopathies and Nephronophthisis v0.93 Zornitza Stark Panel name changed from Renal ciliopathies and nephronophthisis_KidGen_VCGS to Renal Ciliopathies and Nephronophthisis
Panel types changed to Victorian Clinical Genetics Services; KidGen
Amyloidosis v0.20 Zornitza Stark Panel name changed from Renal amyloidosis_KidGen_VCGS to Renal Amyloidosis
Panel types changed to Victorian Clinical Genetics Services; KidGen
Regression v0.60 Zornitza Stark Panel name changed from Regression_VCGS to Regression
Panel types changed to Victorian Clinical Genetics Services
Rasopathy v0.1 Zornitza Stark Panel name changed from Rasopathy_VCGS to Rasopathy
Panel types changed to Victorian Clinical Genetics Services
Radial Ray Abnormalities v0.4 Zornitza Stark Panel name changed from Radial Ray Abnormalities_VCGS to Radial Ray Abnormalities
Panel types changed to Victorian Clinical Genetics Services
Pulmonary Fibrosis_Interstitial Lung Disease v0.4 Zornitza Stark Panel name changed from Pulmonary Fibrosis_VCGS to Pulmonary Fibrosis_Interstitial Lung Disease
Panel types changed to Victorian Clinical Genetics Services
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.1 Zornitza Stark Panel name changed from Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS to Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Panel types changed to Victorian Clinical Genetics Services
Proteinuria v0.100 Zornitza Stark Panel name changed from Proteinuria_VCGS_KidGen to Proteinuria
Panel types changed to Victorian Clinical Genetics Services; KidGen
Predominantly Antibody Deficiency v0.10 Zornitza Stark Panel name changed from Predominantly antibody deficiency_MelbourneGenomics_VCGS to Predominantly Antibody Deficiency
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Polymicrogyria and Schizencephaly v0.11 Zornitza Stark Panel name changed from Polymicrogyria and schizencephaly_AustralianGenomics_VCGS to Polymicrogyria and Schizencephaly
Panel types changed to Victorian Clinical Genetics Services
Polydactyly v0.19 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Polydactyly v0.19 ALMS1 Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence).
Polydactyly v0.19 ALMS1 Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.18 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM#203800
Polydactyly v0.17 ALMS1 Zornitza Stark Classified gene: ALMS1 as Red List (low evidence)
Polydactyly v0.17 ALMS1 Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence).
Polydactyly v0.16 ALMS1 Zornitza Stark reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM#203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.16 Zornitza Stark Panel name changed from Polydactyly_VCGS to Polydactyly
Panel types changed to Victorian Clinical Genetics Services
Pierre Robin Sequence v0.1 Zornitza Stark Panel name changed from Pierre Robin sequence _VCGS to Pierre Robin Sequence
Panel types changed to Victorian Clinical Genetics Services
Photosensitivity Syndromes v0.1 Zornitza Stark Panel name changed from Photosensitivity syndromes_VCGS to Photosensitivity Syndromes
Panel types changed to Victorian Clinical Genetics Services
Phagocyte Defects v0.5 Zornitza Stark Panel name changed from Phagocyte defects_MelbourneGenomics_VCGS to Phagocyte Defects
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Peroxisomal Disorders v0.1 Zornitza Stark Panel name changed from Peroxisomal Disorders_VCGS to Peroxisomal Disorders
Panel types changed to Victorian Clinical Genetics Services
Periventricular Grey Matter Heterotopia v0.4 Zornitza Stark Panel name changed from Periventricular grey matter heterotopia_AustralianGenomics_VCGS to Periventricular Grey Matter Heterotopia
Panel types changed to Victorian Clinical Genetics Services
Paroxysmal Dyskinesia v0.6 Zornitza Stark Panel name changed from Paroxysmal dyskinesia_VCGS to Paroxysmal Dyskinesia
Panel types changed to Victorian Clinical Genetics Services
Pancreatitis v0.1 Zornitza Stark Panel name changed from Pancreatitis_VCGS to Pancreatitis
Panel types changed to Victorian Clinical Genetics Services
Palmoplantar Keratoderma and Erythrokeratoderma v0.1 Zornitza Stark Panel name changed from Palmoplantar keratoderma and erythrokeratoderma_VCGS to Palmoplantar Keratoderma and Erythrokeratoderma
Panel types changed to Victorian Clinical Genetics Services
Overgrowth v0.8 Zornitza Stark Panel name changed from Overgrowth_VCGS to Overgrowth
Panel types changed to Victorian Clinical Genetics Services
Osteopetrosis v0.1 Zornitza Stark Panel name changed from Osteopetrosis_VCGS to Osteopetrosis
Panel types changed to Victorian Clinical Genetics Services
Osteogenesis Imperfecta and Osteoporosis v0.3 Zornitza Stark Panel name changed from Osteogenesis imperfecta_VCGS to Osteogenesis Imperfecta
Panel types changed to Victorian Clinical Genetics Services
Optic Atrophy v0.5 Zornitza Stark Panel name changed from Optic Atrophy_VCGS to Optic Atrophy
Panel types changed to Victorian Clinical Genetics Services
Oligodontia v0.1 Zornitza Stark Panel name changed from Oligodontia_VCGS to Oligodontia
Panel types changed to Victorian Clinical Genetics Services
Ocular and Oculocutaneous Albinism v0.2 Zornitza Stark Panel name changed from Ocular and oculocutaneous albinism_VCGS to Ocular and Oculocutaneous Albinism
Panel types changed to Victorian Clinical Genetics Services
Neurotransmitter Defects v0.1 Zornitza Stark Panel name changed from Neurotransmitter Defect_VCGS to Neurotransmitter Defects
Panel types changed to Victorian Clinical Genetics Services
Motor Neurone Disease v0.2 Zornitza Stark Panel name changed from Motor neuron disease_MND to Motor Neuron Disease
Arrhythmogenic Cardiomyopathy v0.2 Zornitza Stark Panel name changed from Arrhythmogenic right ventricular cardiomyopathy_ARVC to Arrhythmogenic Right Ventricular Cardiomyopathy
Catecholaminergic Polymorphic Ventricular Tachycardia v0.2 Zornitza Stark Panel name changed from Catecholaminergic polymorphic ventricular tachycardia_CPVT to Catecholaminergic Polymorphic Ventricular Tachycardia
Dilated Cardiomyopathy v0.7 Zornitza Stark Panel name changed from Dilated cardiomyopathy_DCM to Dilated Cardiomyopathy
Brugada syndrome v0.2 Zornitza Stark Panel name changed from Brugada syndrome_VCGS to Brugada syndrome
Muscular dystrophy and myopathy_Paediatric v0.6 Zornitza Stark Panel name changed from Muscular dystrophy_VCGS to Muscular dystrophy
Panel types changed to Victorian Clinical Genetics Services
Multiple pterygium syndrome_Fetal akinesia sequence v0.1 Zornitza Stark Panel name changed from Multiple pterygium syndromeVCGS to Multiple pterygium syndrome
Panel types changed to Victorian Clinical Genetics Services
Motor Neurone Disease v0.1 Zornitza Stark Panel name changed from Motor neuron disease MND_MelbourneGenomics_VCGS to Motor neuron disease_MND
Panel types changed to Victorian Clinical Genetics Services
Mitochondrial disease v0.39 Zornitza Stark Panel name changed from Mitochondrial_AustralianGenomics_VCGS to Mitochondrial disease
Panel types changed to Victorian Clinical Genetics Services; Australian Genomics
Microcephaly v0.70 Zornitza Stark Panel name changed from Microcephaly_VCGS to Microcephaly
Panel types changed to Victorian Clinical Genetics Services
Mendeliome v0.795 Zornitza Stark Panel name changed from Mendeliome_VCGS to Mendeliome
Mandibulofacial Acrofacial dysostosis v0.1 Zornitza Stark Panel name changed from Mandibulofacial Acrofacial dysostosis_VCGS to Mandibulofacial Acrofacial dysostosis
Panel types changed to Victorian Clinical Genetics Services
Macrocephaly_Megalencephaly v0.12 Zornitza Stark Panel name changed from Macrocephaly/Megalencephaly_VCGS to Macrocephaly_Megalencephaly
Panel types changed to Victorian Clinical Genetics Services
Long QT Syndrome v0.1 Zornitza Stark Panel name changed from Long QT syndrome_VCGS to Long QT Syndrome
Panel types changed to Victorian Clinical Genetics Services
Lissencephaly and Band Heterotopia v0.8 Zornitza Stark Panel name changed from Lissencephaly and band heterotopia_AustralianGenomics_VCGS to Lissencephaly and band heterotopia
Panel types changed to Victorian Clinical Genetics Services; Australian Genomics
Lipodystrophy_Lipoatrophy v0.1 Zornitza Stark Panel name changed from Lipodystrophy / Lipoatrophy_VCGS to Lipodystrophy_Lipoatrophy
Panel types changed to Victorian Clinical Genetics Services
Kidneyome_SuperPanel v0.241 Zornitza Stark Panel name changed from Kidneyome_SuperPanel_KidGen_VCGS to Kidneyome_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen
Kabuki syndrome v0.1 Zornitza Stark Panel name changed from Kabuki syndrome_VCGS to Kabuki syndrome
Panel types changed to Victorian Clinical Genetics Services
Joubert syndrome and other neurological ciliopathies v0.10 Zornitza Stark Panel name changed from Joubert syndrome and other cerebellar malformations_VCGS to Joubert syndrome and other cerebellar malformations
Panel types changed to Victorian Clinical Genetics Services
Intellectual disability syndromic and non-syndromic v0.1595 Zornitza Stark Panel name changed from Intellectual disability, syndromic and non-syndromic_GHQ_VCGS to Intellectual disability, syndromic and non-syndromic
Panel types changed to Genetic Health Queensland; Victorian Clinical Genetics Services
Inflammatory bowel disease v0.3 Zornitza Stark Panel name changed from Inflammatory bowel disease_VCGS to Inflammatory bowel disease
Panel types changed to Victorian Clinical Genetics Services
Incidentalome v0.7 Zornitza Stark Panel name changed from Incidentalome_VCGS to Incidentalome
Panel types changed to Victorian Clinical Genetics Services
Immunological disorders_SuperPanel v0.112 Zornitza Stark Panel name changed from Immunological disorders_SuperPanel_VCGS to Immunological disorders_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services
Ichthyosis and Porokeratosis v0.6 Zornitza Stark Panel name changed from Ichthyosis_VCGS to Ichthyosis
Panel types changed to Victorian Clinical Genetics Services
Hypophosphataemia or rickets v0.1 Zornitza Stark Panel name changed from Hypophosphataemic Rickets_VCGS to Hypophosphataemic Rickets
Panel types changed to Victorian Clinical Genetics Services
Hypertrophic cardiomyopathy v0.5 Zornitza Stark Panel name changed from Hypertrophic cardiomyopathy_VCGS to Hypertrophic cardiomyopathy_HCM
Panel types changed to Victorian Clinical Genetics Services
Hypertrichosis syndromes v0.4 Zornitza Stark Panel name changed from Hypertrichosis syndromes_VCGS to Hypertrichosis syndromes
Panel types changed to Victorian Clinical Genetics Services
Hyperinsulinism v0.1 Zornitza Stark Panel name changed from Hyperinsulinism_VCGS to Hyperinsulinism
Panel types changed to Victorian Clinical Genetics Services
Hypercalcaemia v0.1 Zornitza Stark Panel name changed from Hypercalcaemia_VCGS to Hypercalcaemia
Panel types changed to Victorian Clinical Genetics Services
Hydrops fetalis v0.105 Zornitza Stark Panel name changed from Hydrops fetalis_VCGS to Hydrops fetalis
Panel types changed to Victorian Clinical Genetics Services
Hydrocephalus_Ventriculomegaly v0.11 Zornitza Stark Panel name changed from Hydrocephalus/Ventriculomegaly_VCGS to Hydrocephalus_Ventriculomegaly
Panel types changed to Victorian Clinical Genetics Services
Holoprosencephaly and septo-optic dysplasia v0.6 Zornitza Stark Panel name changed from Holoprosencephaly and septo-optic dysplasia_VCGS to Holoprosencephaly and septo-optic dysplasia
Panel types changed to Victorian Clinical Genetics Services
Hirschsprung disease v0.1 Zornitza Stark Panel name changed from Hirschsprung disease_VCGS to Hirschsprung disease
Panel types changed to Victorian Clinical Genetics Services
Heterotaxy v0.4 Zornitza Stark Panel name changed from Heterotaxy_VCGS to Heterotaxy
Panel types changed to Victorian Clinical Genetics Services
Hereditary angioedema v0.3 Zornitza Stark Panel name changed from Hereditary angioedema_MelbourneGenomics_VCGS to Hereditary angioedema
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Hereditary Neuropathy v0.3 EXOSC8 Bryony Thompson Marked gene: EXOSC8 as ready
Hereditary Neuropathy v0.3 EXOSC8 Bryony Thompson Gene: exosc8 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.3 EXOSC8 Bryony Thompson Classified gene: EXOSC8 as Red List (low evidence)
Hereditary Neuropathy v0.3 EXOSC8 Bryony Thompson Gene: exosc8 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.2 EXOSC8 Bryony Thompson reviewed gene: EXOSC8: Rating: RED; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haematuria_Alport v0.25 Zornitza Stark Panel name changed from Haematuria_VCGS_KidGen to Haematuria
Panel types changed to Victorian Clinical Genetics Services; KidGen
Glycogen Storage Diseases v0.1 Zornitza Stark Panel name changed from Glycogen Storage Diseases_VCGS to Glycogen Storage Diseases
Panel types changed to Victorian Clinical Genetics Services
Glaucoma congenital v0.1 Zornitza Stark Panel name changed from Glaucoma congenital_VCGS to Glaucoma congenital
Panel types changed to Victorian Clinical Genetics Services
Genetic Epilepsy v0.184 Zornitza Stark Panel name changed from Genetic Epilepsy_AustralianGenomics_VCGS to Genetic Epilepsy
Panel types changed to Victorian Clinical Genetics Services
Frontonasal dysplasia v0.1 Zornitza Stark Panel name changed from Frontonasal dysplasia_VCGS to Frontonasal dysplasia
Panel types changed to Victorian Clinical Genetics Services
Fatty Acid Oxidation Defects v0.1 Zornitza Stark Panel name changed from Fatty Oxidation Defects_VCGS to Fatty Oxidation Defects
Panel types changed to Victorian Clinical Genetics Services
Familial hypercholesterolaemia v0.6 Zornitza Stark Panel name changed from Familial hypercholesterolaemia_VCGS to Familial hypercholesterolaemia
Panel types changed to Victorian Clinical Genetics Services
Eye Anterior Segment Abnormalities v0.5 Zornitza Stark Panel name changed from Eye Anterior Segment Abnormalities_VCGS to Eye Anterior Segment Abnormalities
Panel types changed to Victorian Clinical Genetics Services
Epidermolysis bullosa v0.4 Zornitza Stark Panel name changed from Epidermolysis bullosa_VCGS to Epidermolysis bullosa
Panel types changed to Victorian Clinical Genetics Services
Early-onset Parkinson disease v0.7 Zornitza Stark Panel name changed from Early onset Parkinson disease_MelbourneGenomics_VCGS to Early onset Parkinson disease
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Early-onset Dementia v0.1 Zornitza Stark Panel name changed from Early-onset Dementia_MGHA_VCGS to Early-onset Dementia
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Differences of Sex Development v0.6 Zornitza Stark Panel name changed from Disorders of Sex Differentiation_VCGS to Disorders of Sex Differentiation
Panel types changed to Victorian Clinical Genetics Services
Disorders of immune dysregulation v0.21 Zornitza Stark Panel name changed from Disorders of immune dysregulation_MelbourneGenomics_VCGS to Disorders of immune dysregulation
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Dilated Cardiomyopathy v0.5 Zornitza Stark Panel name changed from Dilated cardiomyopathy_VCGS to Dilated cardiomyopathy_DCM
Panel types changed to Victorian Clinical Genetics Services
Diamond Blackfan anaemia v0.1 Zornitza Stark Panel name changed from Diamond Blackfan anaemia_VCGS to Diamond Blackfan anaemia
Panel types changed to Victorian Clinical Genetics Services
Desmosomal disorders v0.1 Zornitza Stark Panel name changed from Desmosomal disorders_VCGS to Desmosomal disorders
Panel types changed to Victorian Clinical Genetics Services
Defects of intrinsic and innate immunity v0.5 Zornitza Stark Panel name changed from Defects of innate immunity_MelbourneGenomics_VCGS to Defects of innate immunity
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Deafness_IsolatedAndComplex v0.230 Zornitza Stark Panel name changed from Deafness_MelbourneGenomics_VCGS to Deafness
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Craniosynostosis v0.1 Zornitza Stark Panel name changed from Craniosynostosis_VCGS to Craniosynostosis
Panel types changed to Victorian Clinical Genetics Services
Corneal Dystrophy v0.1 Zornitza Stark Panel name changed from Corneal Dystrophy_VCGS to Corneal Dystrophy
Panel types changed to Victorian Clinical Genetics Services
Congenital Heart Defect v0.5 Zornitza Stark Panel name changed from Congenital Heart Defect_VCGS to Congenital Heart Defect
Panel types changed to Victorian Clinical Genetics Services
Congenital Disorders of Glycosylation v0.8 Zornitza Stark Panel name changed from Congenital Disorders of Glycosylation_VCGS to Congenital Disorders of Glycosylation
Panel types changed to Victorian Clinical Genetics Services
Congenital Diarrhoea v0.1 Zornitza Stark Panel name changed from Congenital Diarrhoea_VCGS to Congenital Diarrhoea
Panel types changed to Victorian Clinical Genetics Services
Congenital diaphragmatic hernia v0.1 Zornitza Stark Panel name changed from Congenital diaphragmatic hernia, CDH_VCGS to Congenital diaphragmatic hernia
Panel types changed to Victorian Clinical Genetics Services
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.37 Zornitza Stark Panel name changed from Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Panel types changed to Victorian Clinical Genetics Services
Complement Deficiencies v0.6 Zornitza Stark Panel name changed from Complement deficiencies_MelbourneGenomics_VCGS to Complement deficiencies
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Combined Immunodeficiency v0.37 Zornitza Stark Panel name changed from Combined immunodeficiency_MelbourneGenomics_VCGS to Combined immunodeficiency
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Cobblestone Malformations v0.1 Zornitza Stark Panel name changed from Cobblestone malformations_AustralianGenomics to Cobblestone malformations
Panel types changed to Victorian Clinical Genetics Services; Australian Genomics
Ciliopathies v0.61 Zornitza Stark Panel name changed from Ciliopathies_VCGS to Ciliopathies
Panel types changed to Victorian Clinical Genetics Services
Ciliary Dyskinesia v0.6 Zornitza Stark Panel name changed from Ciliary dyskinesia_VCGS to Ciliary dyskinesia
Panel types changed to Victorian Clinical Genetics Services
Chromosome Breakage Disorders v0.7 Zornitza Stark Panel name changed from Chromosome breakage disorders_VCGS to Chromosome breakage disorders
Panel types changed to Victorian Clinical Genetics Services
Cholestasis v0.2 Zornitza Stark Panel name changed from Cholestasis_VCGS to Cholestasis
Panel types changed to Victorian Clinical Genetics Services
Brain Channelopathies v0.4 Zornitza Stark Panel name changed from Channelopathy_VCGS to Channelopathy
Panel types changed to Victorian Clinical Genetics Services
Cerebral Palsy v0.9 Zornitza Stark Panel name changed from Cerebral Palsy_VCGS to Cerebral Palsy
Panel types changed to Victorian Clinical Genetics Services
Cerebellar and Pontocerebellar Hypoplasia v0.8 Zornitza Stark Panel name changed from Cerebellar and Pontocerebellar hypoplasia_VCGS to Cerebellar and Pontocerebellar hypoplasia
Panel types changed to Victorian Clinical Genetics Services
Central Hypoventilation v0.3 Zornitza Stark Panel name changed from Central Hypoventilation_VCGS to Central Hypoventilation
Panel types changed to Victorian Clinical Genetics Services
Catecholaminergic Polymorphic Ventricular Tachycardia v0.1 Zornitza Stark Panel name changed from Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS to Catecholaminergic polymorphic ventricular tachycardia_CPVT
Panel types changed to Victorian Clinical Genetics Services
Cataract v0.9 Zornitza Stark Panel name changed from Cataract_VCGS to Cataract
Panel types changed to Victorian Clinical Genetics Services
Cardiomyopathy_Adult_SuperPanel v0.10 Zornitza Stark Panel name changed from Cardiomyopathy_SuperPanel_VCGS to Cardiomyopathy_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services
Cancer Predisposition_Paediatric v0.9 Zornitza Stark Panel name changed from Cancer Predisposition_Paediatric_VCGS to Cancer Predisposition_Paediatric
Panel types changed to Victorian Clinical Genetics Services
Callosome v0.56 Zornitza Stark Panel name changed from Callosome_VCGS to Callosome
Panel types changed to Victorian Clinical Genetics Services
Brugada syndrome v0.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services
Hereditary Neuropathy v0.2 ASCC1 Bryony Thompson Marked gene: ASCC1 as ready
Hereditary Neuropathy v0.2 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.2 ASCC1 Bryony Thompson Publications for gene: ASCC1 were set to
Hereditary Neuropathy v0.1 ASCC1 Bryony Thompson Classified gene: ASCC1 as Red List (low evidence)
Hereditary Neuropathy v0.1 ASCC1 Bryony Thompson Added comment: Comment on list classification: Not relevant for testing in an adult hospital. Onset of disease is prenatal and death occurs in the first days or months of life.
Hereditary Neuropathy v0.1 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Red List (Low Evidence).
Brain Calcification v0.13 Zornitza Stark Panel name changed from Brain calcification_VCGS to Brain calcification
Panel types changed to Victorian Clinical Genetics Services
Bone Marrow Failure v0.22 Zornitza Stark Panel name changed from Bone Marrow Failure_VCGS to Bone Marrow Failure
Panel types changed to Victorian Clinical Genetics Services
Blepharophimosis v0.1 Zornitza Stark Panel name changed from Blepharophimosis_VCGS to Blepharophimosis
Panel types changed to Victorian Clinical Genetics Services
Bleeding and Platelet Disorders v0.3 Zornitza Stark Panel name changed from Bleeding Disorders_VCGS to Bleeding Disorders
Panel types changed to Victorian Clinical Genetics Services
Bardet Biedl syndrome v0.18 Zornitza Stark Panel name changed from Bardet Biedl syndrome_VCGS to Bardet Biedl syndrome
Panel types changed to Victorian Clinical Genetics Services
Autism v0.37 Zornitza Stark Panel name changed from Autism_VCGS to Autism
Panel types changed to Victorian Clinical Genetics Services
Atypical Haemolytic Uraemic Syndrome_MPGN v0.27 Zornitza Stark Panel name changed from Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH to Atypical Haemolytic Uraemic Syndrome_MPGN
Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital
Atrial Fibrillation v0.1 Zornitza Stark Panel name changed from Atrial fibrilation_VCGS to Atrial fibrillation
Panel types changed to Victorian Clinical Genetics Services
Arthrogryposis v0.14 Zornitza Stark Panel name changed from Arthrogryposis_VCGS to Arthrogryposis
Arthrogryposis v0.14 Zornitza Stark Panel name changed from Arthrogryposis_VCGS to Arthrogryposis
Panel types changed to Victorian Clinical Genetics Services
Susceptibility to Viral Infections v0.7 Sebastian Lunke Panel name changed from Susceptibility to viral infections_MelbourneGenomics_VCGS to Susceptibility to Viral Infections
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services
Arrhythmogenic Cardiomyopathy v0.1 Zornitza Stark Panel name changed from Arrhythmogenic right ventricular cardiomyopathy_VCGS to Arrhythmogenic right ventricular cardiomyopathy_ARVC
Panel types changed to Victorian Clinical Genetics Services
Arrhythmia_SuperPanel v0.2 Zornitza Stark Panel name changed from Arrhythmia_SuperPanel_VCGS to Arrhythmia_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services
Aortopathy_Connective Tissue Disorders v0.10 Zornitza Stark Panel name changed from Aortopathy, Connective tissue disorder_VCGS to Aortopathy_Connective tissue disorders
Panel types changed to Victorian Clinical Genetics Services
Anophthalmia_Microphthalmia_Coloboma v0.39 Zornitza Stark Panel name changed from Anophthalmia, microphthalmia, coloboma_VCGS to Anophthalmia_Microphthalmia_Coloboma
Panel types changed to Victorian Clinical Genetics Services
Angelman Rett like syndromes v0.4 Zornitza Stark Panel name changed from Angelman Rett like syndromes_VCGS to Angelman Rett like syndromes
Panel types changed to Victorian Clinical Genetics Services
Alternating Hemiplegia and Hemiplegic Migraine v0.5 Zornitza Stark Panel name changed from Alternating hemiplegia including hemiplegic migraine_VCGS to Alternating hemiplegia including hemiplegic migraine
Panel types changed to Victorian Clinical Genetics Services
Autoinflammatory Disorders v0.10 Sebastian Lunke Panel name changed from Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS to Systemic Autoinflammatory Disease_Periodic Fever
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.1 Sebastian Lunke Panel name changed from Tuberous sclerosis, cortical dysplasia and hemimegalencephaly_AustralianGenomics_VCGS to Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly
Panel types changed to Australian Genomics; Victorian Clinical Genetics Services
Tubulinopathies v0.1 Sebastian Lunke Panel name changed from Tubulinopathies_AustralianGenomics_VCGS to Tubulinopathies
Panel types changed to Australian Genomics; Victorian Clinical Genetics Services
Alagille syndrome v0.1 Zornitza Stark Panel name changed from Alagille syndrome_VCGS to Alagille syndrome
Panel types changed to Victorian Clinical Genetics Services
Additional findings_Adult v0.2 Zornitza Stark Panel name changed from Additional findings_Adult_MelbGenomics to Additional findings_Adult
Panel types changed to Melbourne Genomics
Intellectual disability syndromic and non-syndromic v0.1594 Zornitza Stark removed gene:TEMN3-AS1 from the panel
Intellectual disability syndromic and non-syndromic v0.1593 HK1 Natasha Brown Classified gene: HK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1593 HK1 Natasha Brown Gene: hk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown Marked gene: HK1 as ready
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown Gene: hk1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown gene: HK1 was added
gene: HK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HK1 were set to PMID: 30778173
Mode of pathogenicity for gene: HK1 was set to Other
Review for gene: HK1 was set to GREEN
Added comment: 7 patients from 6 unrelated families with denovo missense variants in the N-terminal half of HK1
Sources: Literature
Bone Marrow Failure v0.21 STN1 Zornitza Stark Marked gene: STN1 as ready
Bone Marrow Failure v0.21 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.21 STN1 Zornitza Stark Classified gene: STN1 as Amber List (moderate evidence)
Bone Marrow Failure v0.21 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.20 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Review for gene: STN1 was set to AMBER
Added comment: Two unrelated individuals reported with a multisystem disorder characterised by premature ageing, pancytopaenia, hypocellular bone marrow, osteopaenia, liver fibrosis, vascular telangiectasia, intracranial calcifications and leukodystrophy.
Sources: Expert list
Mendeliome v0.794 STN1 Zornitza Stark Marked gene: STN1 as ready
Mendeliome v0.794 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.794 STN1 Zornitza Stark Classified gene: STN1 as Amber List (moderate evidence)
Mendeliome v0.794 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.793 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Review for gene: STN1 was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert list
Brain Calcification v0.12 STN1 Zornitza Stark Marked gene: STN1 as ready
Brain Calcification v0.12 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Brain Calcification v0.12 STN1 Zornitza Stark Classified gene: STN1 as Amber List (moderate evidence)
Brain Calcification v0.12 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Brain Calcification v0.11 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Brain calcification_VCGS. Sources: Expert list
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341
Review for gene: STN1 was set to AMBER
Added comment: Two individuals from unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1591 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Intellectual disability syndromic and non-syndromic v0.1591 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1591 SNORD118 Zornitza Stark Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Intellectual disability syndromic and non-syndromic v0.1590 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Intellectual disability syndromic and non-syndromic v0.1589 SNORD118 Zornitza Stark Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.183 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Genetic Epilepsy v0.183 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.183 SNORD118 Zornitza Stark Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Genetic Epilepsy v0.182 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Genetic Epilepsy v0.181 SNORD118 Zornitza Stark Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.10 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Brain Calcification v0.10 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Brain Calcification v0.10 SNORD118 Zornitza Stark Classified gene: SNORD118 as Green List (high evidence)
Brain Calcification v0.10 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Brain Calcification v0.9 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Brain calcification_VCGS. Sources: Expert list
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNORD118 were set to 27571260
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Review for gene: SNORD118 was set to GREEN
Added comment: Over 30 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Marked gene: FARSB as ready
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Classified gene: FARSB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1587 FARSB Zornitza Stark gene: FARSB was added
gene: FARSB was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSB were set to 29573043; 19161147; 29979980; 30014610
Phenotypes for gene: FARSB were set to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability
Review for gene: FARSB was set to GREEN
Added comment: 7 unrelated families reported.
Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.3 FARSB Zornitza Stark Marked gene: FARSB as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.3 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.3 FARSB Zornitza Stark Phenotypes for gene: FARSB were changed from to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability
Pulmonary Fibrosis_Interstitial Lung Disease v0.2 FARSB Zornitza Stark Publications for gene: FARSB were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.1 FARSB Zornitza Stark Mode of inheritance for gene: FARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.8 FARSB Zornitza Stark Marked gene: FARSB as ready
Brain Calcification v0.8 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Brain Calcification v0.8 FARSB Zornitza Stark Classified gene: FARSB as Green List (high evidence)
Brain Calcification v0.8 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Brain Calcification v0.7 FARSB Zornitza Stark gene: FARSB was added
gene: FARSB was added to Brain calcification_VCGS. Sources: Expert list
Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSB were set to 29573043; 19161147; 29979980; 30014610
Phenotypes for gene: FARSB were set to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability
Review for gene: FARSB was set to GREEN
Added comment: 7 unrelated families reported.
Sources: Expert list
Brain Calcification v0.6 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Brain Calcification v0.6 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence).
Brain Calcification v0.6 AP1S2 Zornitza Stark Classified gene: AP1S2 as Green List (high evidence)
Brain Calcification v0.6 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence).
Brain Calcification v0.5 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Brain calcification_VCGS. Sources: Expert list
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, MIM#304340
Review for gene: AP1S2 was set to GREEN
Added comment: Iron and calcium deposition in the brain is a feature of this condition.
Sources: Expert list
Mendeliome v0.792 Anthony Marty Panel types changed to Victorian Clinical Genetics Services
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Marked gene: GLIS2 as ready
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from to Nephronophthisis 7, OMIM#611498
Renal Ciliopathies and Nephronophthisis v0.91 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to
Renal Ciliopathies and Nephronophthisis v0.91 GLIS2 Zornitza Stark Mode of inheritance for gene: GLIS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.90 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Renal Ciliopathies and Nephronophthisis v0.90 B9D1 Zornitza Stark Gene: b9d1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.90 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120 to Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120
Renal Ciliopathies and Nephronophthisis v0.89 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120
Renal Ciliopathies and Nephronophthisis v0.89 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.88 EVC Zornitza Stark Marked gene: EVC as ready
Renal Ciliopathies and Nephronophthisis v0.88 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.88 EVC Zornitza Stark Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome, MIM#225500 to Ellis-van Creveld syndrome, MIM#225500
Renal Ciliopathies and Nephronophthisis v0.87 EVC Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM#225500
Renal Ciliopathies and Nephronophthisis v0.86 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.85 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Renal Ciliopathies and Nephronophthisis v0.85 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.85 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from to Axenfeld-Rieger syndrome, type 3, MIM#602482
Renal Ciliopathies and Nephronophthisis v0.84 IFT57 Zornitza Stark Marked gene: IFT57 as ready
Renal Ciliopathies and Nephronophthisis v0.84 IFT57 Zornitza Stark Gene: ift57 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.84 IFT57 Zornitza Stark Phenotypes for gene: IFT57 were changed from Orofaciodigital syndrome XVIII, MIM#617927 to Orofaciodigital syndrome XVIII, MIM#617927
Renal Ciliopathies and Nephronophthisis v0.83 IFT57 Zornitza Stark Phenotypes for gene: IFT57 were changed from to Orofaciodigital syndrome XVIII, MIM#617927
Renal Ciliopathies and Nephronophthisis v0.82 KIF14 Zornitza Stark Marked gene: KIF14 as ready
Renal Ciliopathies and Nephronophthisis v0.82 KIF14 Zornitza Stark Gene: kif14 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.82 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from Joubert syndrome 22, OMIM #615665 to Joubert syndrome 22, OMIM #615665
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Renal Ciliopathies and Nephronophthisis v0.80 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Marked gene: POC1B as ready
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Gene: poc1b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.78 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.78 POC1B Zornitza Stark Phenotypes for gene: POC1B were changed from to Cone-rod dystrophy 20, MIM#615973
Renal Ciliopathies and Nephronophthisis v0.77 SLC41A1 Zornitza Stark Marked gene: SLC41A1 as ready
Renal Ciliopathies and Nephronophthisis v0.77 SLC41A1 Zornitza Stark Gene: slc41a1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.77 SLC41A1 Zornitza Stark Phenotypes for gene: SLC41A1 were changed from to Nephronophthisis; no OMIM number
Renal Ciliopathies and Nephronophthisis v0.76 SLC41A1 Zornitza Stark Publications for gene: SLC41A1 were set to
Renal Ciliopathies and Nephronophthisis v0.76 SLC41A1 Zornitza Stark Mode of inheritance for gene: SLC41A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.75 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Renal Ciliopathies and Nephronophthisis v0.75 WDR34 Zornitza Stark Gene: wdr34 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.75 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633 to Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633
Renal Ciliopathies and Nephronophthisis v0.74 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633
Renal Ciliopathies and Nephronophthisis v0.74 WDR34 Zornitza Stark Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.73 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from Nephronophthisis-like nephropathy 1, OMIM #613159 to Nephronophthisis-like nephropathy 1, OMIM #613159
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Renal Ciliopathies and Nephronophthisis v0.71 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.70 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Renal Ciliopathies and Nephronophthisis v0.70 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.70 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, MIM# 615948 to Orofaciodigital syndrome XIV, MIM# 615948
Renal Ciliopathies and Nephronophthisis v0.69 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948
Renal Ciliopathies and Nephronophthisis v0.68 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Haematuria_Alport v0.24 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Haematuria_Alport v0.24 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Haematuria_Alport v0.24 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773
Haematuria_Alport v0.23 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.22 CUBN Zornitza Stark Marked gene: CUBN as ready
Haematuria_Alport v0.22 CUBN Zornitza Stark Gene: cubn has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 FN1 Zornitza Stark Marked gene: FN1 as ready
Haematuria_Alport v0.22 FN1 Zornitza Stark Gene: fn1 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Haematuria_Alport v0.22 LMX1B Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 NPHS2 Zornitza Stark Marked gene: NPHS2 as ready
Haematuria_Alport v0.22 NPHS2 Zornitza Stark Gene: nphs2 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 OCRL Zornitza Stark Marked gene: OCRL as ready
Haematuria_Alport v0.22 OCRL Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 CFHR5 Zornitza Stark Marked gene: CFHR5 as ready
Haematuria_Alport v0.22 CFHR5 Zornitza Stark Gene: cfhr5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 CFHR5 Zornitza Stark Phenotypes for gene: CFHR5 were changed from Nephropathy due to CFHR5 deficiency, MIM#614809 to Nephropathy due to CFHR5 deficiency, MIM#614809
Haematuria_Alport v0.21 CFHR5 Zornitza Stark Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM#614809
Atypical Haemolytic Uraemic Syndrome_MPGN v0.26 ADAMTS13 Zornitza Stark Marked gene: ADAMTS13 as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.26 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Amber List (Moderate Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.26 ADAMTS13 Zornitza Stark Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, OMIM #274150 to Thrombotic thrombocytopenic purpura, familial, OMIM #274150
Atypical Haemolytic Uraemic Syndrome_MPGN v0.25 ADAMTS13 Zornitza Stark Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, familial, OMIM #274150
Atypical Haemolytic Uraemic Syndrome_MPGN v0.24 ADAMTS13 Zornitza Stark Mode of inheritance for gene: ADAMTS13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 THBD Zornitza Stark Marked gene: THBD as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 THBD Zornitza Stark Phenotypes for gene: THBD were changed from {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926 to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926
Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 THBD Zornitza Stark Phenotypes for gene: THBD were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926
Atypical Haemolytic Uraemic Syndrome_MPGN v0.22 THBD Zornitza Stark Publications for gene: THBD were set to
Atypical Haemolytic Uraemic Syndrome_MPGN v0.22 THBD Zornitza Stark Mode of inheritance for gene: THBD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.21 THBD Zornitza Stark Mode of inheritance for gene: THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.791 JAM2 Zornitza Stark Marked gene: JAM2 as ready
Mendeliome v0.791 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Mendeliome v0.791 JAM2 Zornitza Stark Classified gene: JAM2 as Green List (high evidence)
Mendeliome v0.791 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Mendeliome v0.790 JAM2 Zornitza Stark gene: JAM2 was added
gene: JAM2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM2 were set to 31851307
Phenotypes for gene: JAM2 were set to Primary brain calcification
Review for gene: JAM2 was set to GREEN
Added comment: Three unrelated families with bi-allelic variants reported. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and probable asymptomatic (1/4), with diverse onset ages.
Sources: Literature
Brain Calcification v0.4 JAM2 Zornitza Stark Marked gene: JAM2 as ready
Brain Calcification v0.4 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Brain Calcification v0.4 JAM2 Zornitza Stark Classified gene: JAM2 as Green List (high evidence)
Brain Calcification v0.4 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Brain Calcification v0.3 JAM2 Zornitza Stark gene: JAM2 was added
gene: JAM2 was added to Brain calcification_VCGS. Sources: Literature
Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM2 were set to 31851307
Phenotypes for gene: JAM2 were set to Primary brain calcification
Added comment: Three unrelated families with bi-allelic variants reported. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and probable asymptomatic (1/4), with diverse onset ages.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1586 FAM160B1 Zornitza Stark Marked gene: FAM160B1 as ready
Intellectual disability syndromic and non-syndromic v0.1586 FAM160B1 Zornitza Stark Gene: fam160b1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090 to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1585 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1584 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Intellectual disability syndromic and non-syndromic v0.1584 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKA Zornitza Stark Marked gene: CLCNKA as ready
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKA Zornitza Stark Gene: clcnka has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKB Zornitza Stark Publications for gene: CLCNKB were set to
Intellectual disability syndromic and non-syndromic v0.1583 CLCNKB Zornitza Stark Mode of inheritance for gene: CLCNKB was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1582 CLCNKA Zornitza Stark Phenotypes for gene: CLCNKA were changed from to Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1582 COASY Zornitza Stark Marked gene: COASY as ready
Intellectual disability syndromic and non-syndromic v0.1582 COASY Zornitza Stark Gene: coasy has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1582 CLCNKA Zornitza Stark Publications for gene: CLCNKA were set to
Intellectual disability syndromic and non-syndromic v0.1581 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Other to Other
Intellectual disability syndromic and non-syndromic v0.1581 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1580 COASY Zornitza Stark Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266 to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Intellectual disability syndromic and non-syndromic v0.1580 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from Congenital disorder of glycosylation, type Iil, MIM#614576 to Congenital disorder of glycosylation, type Iil, MIM#614576
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Marked gene: COG6 as ready
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1579 COASY Zornitza Stark Phenotypes for gene: COASY were changed from to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Intellectual disability syndromic and non-syndromic v0.1579 COASY Zornitza Stark Publications for gene: COASY were set to 24360804; 30089828
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type Iil, MIM#614576
Intellectual disability syndromic and non-syndromic v0.1578 COASY Zornitza Stark Publications for gene: COASY were set to
Intellectual disability syndromic and non-syndromic v0.1578 COASY Zornitza Stark Mode of inheritance for gene: COASY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1577 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654
Intellectual disability syndromic and non-syndromic v0.1575 COQ9 Zornitza Stark Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1574 ETFA Zornitza Stark Marked gene: ETFA as ready
Intellectual disability syndromic and non-syndromic v0.1574 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Intellectual disability syndromic and non-syndromic v0.1574 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1574 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 KLF7 Zornitza Stark Marked gene: KLF7 as ready
Intellectual disability syndromic and non-syndromic v0.1574 KLF7 Zornitza Stark Gene: klf7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Intellectual disability syndromic and non-syndromic v0.1573 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Intellectual disability syndromic and non-syndromic v0.1572 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Marked gene: MED17 as ready
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Intellectual disability syndromic and non-syndromic v0.1570 MED17 Zornitza Stark Publications for gene: MED17 were set to
Intellectual disability syndromic and non-syndromic v0.1569 MED17 Zornitza Stark Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1568 METTL5 Zornitza Stark Marked gene: METTL5 as ready
Intellectual disability syndromic and non-syndromic v0.1568 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Intellectual disability syndromic and non-syndromic v0.1568 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Intellectual disability syndromic and non-syndromic v0.1568 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13, MIM#618235
Intellectual disability syndromic and non-syndromic v0.1567 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Intellectual disability syndromic and non-syndromic v0.1567 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1567 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to 18513682; 28857146
Intellectual disability syndromic and non-syndromic v0.1567 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1566 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11, MIM#618234
Intellectual disability syndromic and non-syndromic v0.1565 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Intellectual disability syndromic and non-syndromic v0.1564 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Marked gene: PIGG as ready
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, MIM#616917 to Mental retardation, autosomal recessive 53, MIM#616917
Intellectual disability syndromic and non-syndromic v0.1562 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917
Intellectual disability syndromic and non-syndromic v0.1561 PIGG Zornitza Stark Publications for gene: PIGG were set to 26996948
Intellectual disability syndromic and non-syndromic v0.1560 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1559 PIGG Zornitza Stark Publications for gene: PIGG were set to
Intellectual disability syndromic and non-syndromic v0.1559 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1558 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Intellectual disability syndromic and non-syndromic v0.1558 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Intellectual disability syndromic and non-syndromic v0.1558 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Intellectual disability syndromic and non-syndromic v0.1558 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Intellectual disability syndromic and non-syndromic v0.1558 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Gene: scn9a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Phenotypes for gene: SCN9A were changed from to Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863; HSAN2D, autosomal recessive, MIM#243000
Intellectual disability syndromic and non-syndromic v0.1557 SCN9A Zornitza Stark Mode of inheritance for gene: SCN9A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1556 SCN9A Zornitza Stark Classified gene: SCN9A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1556 SCN9A Zornitza Stark Gene: scn9a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Gene: sema3e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from CHARGE syndrome, MIM#214800 to CHARGE syndrome, MIM#214800
Intellectual disability syndromic and non-syndromic v0.1554 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM#214800
Intellectual disability syndromic and non-syndromic v0.1554 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to 15235037; 31691538; 31464029
Intellectual disability syndromic and non-syndromic v0.1553 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
Intellectual disability syndromic and non-syndromic v0.1553 SEMA3E Zornitza Stark Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from Severe neurodevelopmental delay, microcephaly, arthrogryposis to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Intellectual disability syndromic and non-syndromic v0.1551 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Intellectual disability syndromic and non-syndromic v0.1550 SMPD4 Zornitza Stark Publications for gene: SMPD4 were set to
Intellectual disability syndromic and non-syndromic v0.1549 SMPD4 Zornitza Stark Mode of inheritance for gene: SMPD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1548 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SNAP25 Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SOX4 Zornitza Stark Marked gene: SOX4 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SPART Zornitza Stark Marked gene: SPART as ready
Intellectual disability syndromic and non-syndromic v0.1548 SPART Zornitza Stark Gene: spart has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Intellectual disability syndromic and non-syndromic v0.1548 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUZ12 Zornitza Stark Marked gene: SUZ12 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUZ12 Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SVBP Zornitza Stark Marked gene: SVBP as ready
Intellectual disability syndromic and non-syndromic v0.1548 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SYT1 Zornitza Stark Marked gene: SYT1 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SYT1 Zornitza Stark Gene: syt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Intellectual disability syndromic and non-syndromic v0.1548 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Marked gene: TBCD as ready
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Intellectual disability syndromic and non-syndromic v0.1547 TBCD Zornitza Stark Publications for gene: TBCD were set to
Intellectual disability syndromic and non-syndromic v0.1546 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.789 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Mendeliome v0.789 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Mendeliome v0.789 TDP2 Zornitza Stark Classified gene: TDP2 as Green List (high evidence)
Mendeliome v0.789 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Mendeliome v0.788 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 31410782; 30109272; 24658003
Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949
Review for gene: TDP2 was set to GREEN
Added comment: ID is part of the phenotype: 4 families with 6 affected patients, with functional evidence.

1 family with 3 affected sibs with homozygous splice site mutation in the TDP2 gene. Patient cell extracts showed absence of the full-length TDP2 protein and absence of 5-prime TDP activity, consistent with a loss of function, although 3-prime TDP activity, conferred by TDP1, was normal. In addition, patient lymphoblastoid cells were hypersensitive to the TOP2 poison etoposide. The findings indicated impaired capacity for double-strand break repair.

1 unrelated Egyptian patient with a similar disorder was homozygous for a truncating mutation in the TDP2 gene

1 unrelated Caucasian patient with same homozygous splice site mutation in the TDP2 gene. Western blot analysis did not detect TDP2 protein in patient primary skin fibroblasts. Patient fibroblasts showed an inability to rapidly repair topoisomerase-induced DNA double-strand breaks in the nucleus and also showed a profound hypersensitivity to this type of DNA damage. Complementation of patient cells with recombinant human TDP2 restored normal rates of nuclear DSB repair.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1545 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TERT Zornitza Stark Marked gene: TERT as ready
Intellectual disability syndromic and non-syndromic v0.1545 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TKT Zornitza Stark Marked gene: TKT as ready
Intellectual disability syndromic and non-syndromic v0.1545 TKT Zornitza Stark Gene: tkt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Mendeliome v0.787 TRMT1 Zornitza Stark Marked gene: TRMT1 as ready
Mendeliome v0.787 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Mendeliome v0.787 TRMT1 Zornitza Stark Classified gene: TRMT1 as Green List (high evidence)
Mendeliome v0.787 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Mendeliome v0.786 TRMT1 Zornitza Stark gene: TRMT1 was added
gene: TRMT1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1 were set to 30289604; 26308914; 21937992
Phenotypes for gene: TRMT1 were set to Mental retardation, autosomal recessive 68; OMIM #618302
Review for gene: TRMT1 was set to GREEN
Added comment: 4 families reported:
-1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development.
-1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development
-2 unrelated Pakistani families with 4 patients with impaired intellectual development.
All with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1545 TRMT1 Zornitza Stark Marked gene: TRMT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1545 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Intellectual disability syndromic and non-syndromic v0.1545 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Intellectual disability syndromic and non-syndromic v0.1545 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VPS37A Zornitza Stark Marked gene: VPS37A as ready
Intellectual disability syndromic and non-syndromic v0.1545 VPS37A Zornitza Stark Gene: vps37a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Intellectual disability syndromic and non-syndromic v0.1545 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WNT1 Zornitza Stark Marked gene: WNT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 WNT1 Zornitza Stark Gene: wnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WNT5A Zornitza Stark Marked gene: WNT5A as ready
Intellectual disability syndromic and non-syndromic v0.1545 WNT5A Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 XPA Zornitza Stark Marked gene: XPA as ready
Intellectual disability syndromic and non-syndromic v0.1545 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 ZNF335 Zornitza Stark Marked gene: ZNF335 as ready
Intellectual disability syndromic and non-syndromic v0.1545 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Autism v0.36 ZSWIM6 Zornitza Stark Mode of pathogenicity for gene: ZSWIM6 was changed from Other to None
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Mode of pathogenicity for gene: ZSWIM6 was changed from to None
Intellectual disability syndromic and non-syndromic v0.1544 ZSWIM6 Zornitza Stark Publications for gene: ZSWIM6 were set to
Intellectual disability syndromic and non-syndromic v0.1543 ZSWIM6 Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865
Intellectual disability syndromic and non-syndromic v0.1542 ZSWIM6 Zornitza Stark Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1541 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Intellectual disability syndromic and non-syndromic v0.1541 MAGT1 Zornitza Stark Gene: magt1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 MRPL3 Zornitza Stark Marked gene: MRPL3 as ready
Intellectual disability syndromic and non-syndromic v0.1541 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Marked gene: NDUFB9 as ready
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Mode of inheritance for gene: NDUFB9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.785 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Mendeliome v0.785 SLC35A3 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 sibs, with segregation but no functional studies.

1 family with 8 affected people. The mutations segregated with the disorder in the family. Patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlCNAc compared to controls.
Mendeliome v0.785 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.785 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from to Arthrogryposis, mental retardation, and seizures; OMIM #615553
Mendeliome v0.784 SLC35A3 Zornitza Stark Mode of inheritance for gene: SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 sibs, with segregation but no functional studies.

1 family with 8 affected people. The mutations segregated with the disorder in the family. Patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlCNAc compared to controls.
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.783 SLC35A3 Zornitza Stark Publications for gene: SLC35A3 were set to
Mendeliome v0.782 SLC35A3 Zornitza Stark Classified gene: SLC35A3 as Amber List (moderate evidence)
Mendeliome v0.782 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Mode of inheritance for gene: SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.6 SLC35A3 Zornitza Stark Publications for gene: SLC35A3 were set to
Congenital Disorders of Glycosylation v0.5 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from to Arthrogryposis, mental retardation, and seizures; OMIM #615553
Congenital Disorders of Glycosylation v0.4 SLC35A3 Zornitza Stark Classified gene: SLC35A3 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.4 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Intellectual disability syndromic and non-syndromic v0.1540 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.781 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
Mendeliome v0.781 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.781 SLC9A7 Zornitza Stark Classified gene: SLC9A7 as Amber List (moderate evidence)
Mendeliome v0.781 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.780 SLC9A7 Zornitza Stark gene: SLC9A7 was added
gene: SLC9A7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A7 were set to 30335141
Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108; OMIM #301024
Review for gene: SLC9A7 was set to AMBER
Added comment: 6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1540 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
Intellectual disability syndromic and non-syndromic v0.1540 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Marked gene: SNRPN as ready
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Gene: snrpn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Tag SV/CNV tag was added to gene: SNRPN.
Intellectual disability syndromic and non-syndromic v0.1540 TACO1 Zornitza Stark Marked gene: TACO1 as ready
Intellectual disability syndromic and non-syndromic v0.1540 TACO1 Zornitza Stark Gene: taco1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Classified gene: TCTN3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Mendeliome v0.779 KIAA1161 Zornitza Stark Marked gene: KIAA1161 as ready
Mendeliome v0.779 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Mendeliome v0.779 KIAA1161 Zornitza Stark Classified gene: KIAA1161 as Green List (high evidence)
Mendeliome v0.779 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Mendeliome v0.778 KIAA1161 Zornitza Stark gene: KIAA1161 was added
gene: KIAA1161 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000
Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317
Review for gene: KIAA1161 was set to GREEN
Added comment: Total 9 families, but no functional evidence:

12 patients from 6 unrelated Chinese families reported by Yao et al. (2018) and homozygous or compound heterozygous mutations in the MYORG gene. Functional studies of the variants and studies of patient cells were not performed, but the presence of nonsense mutations suggested a loss of function.

1 Chinese woman identified with homozygous nonsense mutation in the MYORG gene, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.

2 unrelated Middle Eastern families with homozygous mutations in the MYORG gene, which segregated with the disorder in the families. Functional studies of the variants were not performed.

4 sibs from one Turkish family with homozygous missense mutation in the MYORG gene, which segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.
Sources: Literature
Brain Calcification v0.2 KIAA1161 Zornitza Stark Marked gene: KIAA1161 as ready
Brain Calcification v0.2 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.38 Zornitza Stark removed gene:TEMN3-AS1 from the panel
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Marked gene: TEMN3-AS1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Gene: temn3-as1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Classified gene: TEMN3-AS1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Gene: temn3-as1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.36 TEMN3-AS1 Zornitza Stark gene: TEMN3-AS1 was added
gene: TEMN3-AS1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: TEMN3-AS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEMN3-AS1 were set to 27103084; 30513139; 30513139; 22766609
Phenotypes for gene: TEMN3-AS1 were set to Microphthalmia, isolated, with coloboma 9, OMIM #615145; Microphthalmia, syndromic 15, OMIM #615145
Review for gene: TEMN3-AS1 was set to GREEN
Added comment: Three families with syndromic microphthalmia and one family with non-syndromic microphthalmia reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1539 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Intellectual disability syndromic and non-syndromic v0.1539 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 TUFM Zornitza Stark Marked gene: TUFM as ready
Intellectual disability syndromic and non-syndromic v0.1539 TUFM Zornitza Stark Gene: tufm has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Intellectual disability syndromic and non-syndromic v0.1539 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.777 ZC3H14 Zornitza Stark Marked gene: ZC3H14 as ready
Mendeliome v0.777 ZC3H14 Zornitza Stark Added comment: Comment when marking as ready: Two families reported.
Mendeliome v0.777 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.777 ZC3H14 Zornitza Stark Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125
Mendeliome v0.776 ZC3H14 Zornitza Stark Publications for gene: ZC3H14 were set to
Mendeliome v0.775 ZC3H14 Zornitza Stark Classified gene: ZC3H14 as Amber List (moderate evidence)
Mendeliome v0.775 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 ZC3H14 Zornitza Stark Marked gene: ZC3H14 as ready
Intellectual disability syndromic and non-syndromic v0.1539 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Brain Calcification v0.2 KIAA1161 Chirag Patel Classified gene: KIAA1161 as Green List (high evidence)
Brain Calcification v0.2 KIAA1161 Chirag Patel Gene: kiaa1161 has been classified as Green List (High Evidence).
Brain Calcification v0.1 KIAA1161 Chirag Patel gene: KIAA1161 was added
gene: KIAA1161 was added to Brain calcification_VCGS. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to PubMed: 30656188, 30649222, 30460687, 29910000
Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317
Review for gene: KIAA1161 was set to GREEN
Added comment: Total 9 families, but no functional evidence:

12 patients from 6 unrelated Chinese families reported by Yao et al. (2018) and homozygous or compound heterozygous mutations in the MYORG gene. Functional studies of the variants and studies of patient cells were not performed, but the presence of nonsense mutations suggested a loss of function.

1 Chinese woman identified with homozygous nonsense mutation in the MYORG gene, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.

2 unrelated Middle Eastern families with homozygous mutations in the MYORG gene, which segregated with the disorder in the families. Functional studies of the variants were not performed.

4 sibs from one Turkish family with homozygous missense mutation in the MYORG gene, which segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.
Sources: Literature
Mendeliome v0.774 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Mendeliome v0.774 ZFHX3 Zornitza Stark Added comment: Comment when marking as ready: Emerging evidence.
Mendeliome v0.774 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.774 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Amber List (moderate evidence)
Mendeliome v0.774 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.773 ZFHX3 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Intellectual disability syndromic and non-syndromic v0.1538 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 IGF2 Zornitza Stark Gene: igf2 has been classified as Red List (Low Evidence).
Mendeliome v0.773 KLLN Zornitza Stark Marked gene: KLLN as ready
Mendeliome v0.773 KLLN Zornitza Stark Added comment: Comment when marking as ready: Epigenetic modification of the promoter linked to Cowden syndrome.
Mendeliome v0.773 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Mendeliome v0.773 KLLN Zornitza Stark Publications for gene: KLLN were set to
Mendeliome v0.772 KLLN Zornitza Stark Classified gene: KLLN as Red List (low evidence)
Mendeliome v0.772 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 KLLN Zornitza Stark Marked gene: KLLN as ready
Intellectual disability syndromic and non-syndromic v0.1538 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 LSM1 Zornitza Stark Marked gene: LSM1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 LSM1 Zornitza Stark Gene: lsm1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MACROD2 Zornitza Stark Marked gene: MACROD2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MACROD2 Zornitza Stark Gene: macrod2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MCM4 Zornitza Stark Marked gene: MCM4 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MCM4 Zornitza Stark Gene: mcm4 has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.0 KREMEN1 Bryony Thompson gene: KREMEN1 was added
gene: KREMEN1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type, 617392
Ectodermal Dysplasia v0.0 TSPEAR Bryony Thompson gene: TSPEAR was added
gene: TSPEAR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Ectodermal Dysplasia v0.0 KRT74 Bryony Thompson gene: KRT74 was added
gene: KRT74 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KRT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KRT74 were set to 24714551
Phenotypes for gene: KRT74 were set to ?Ectodermal dysplasia 7, hair/nail type, 614929
Ectodermal Dysplasia v0.0 KRT85 Bryony Thompson gene: KRT85 was added
gene: KRT85 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032
Ectodermal Dysplasia v0.0 CST6 Bryony Thompson gene: CST6 was added
gene: CST6 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CST6 were set to 30425301
Phenotypes for gene: CST6 were set to ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535
Ectodermal Dysplasia v0.0 MSX1 Bryony Thompson gene: MSX1 was added
gene: MSX1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSX1 were set to Ectodermal dysplasia 3, Witkop type, 189500
Ectodermal Dysplasia v0.0 KDF1 Bryony Thompson gene: KDF1 was added
gene: KDF1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDF1 were set to 30977908; 27838789; 24075906
Phenotypes for gene: KDF1 were set to ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Ectodermal Dysplasia v0.0 WNT10A Bryony Thompson gene: WNT10A was added
gene: WNT10A was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia, Tooth agenesis, selective, Schopf-Schulz-Passarge syndrome
Ectodermal Dysplasia v0.0 WDR35 Bryony Thompson gene: WDR35 was added
gene: WDR35 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
Ectodermal Dysplasia v0.0 TP63 Bryony Thompson gene: TP63 was added
gene: TP63 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome
Ectodermal Dysplasia v0.0 RMRP Bryony Thompson gene: RMRP was added
gene: RMRP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia
Ectodermal Dysplasia v0.0 NECTIN4 Bryony Thompson gene: NECTIN4 was added
gene: NECTIN4 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN4 were set to Ectodermal dysplasia-syndactyly syndrome 1
Ectodermal Dysplasia v0.0 PRKD1 Bryony Thompson gene: PRKD1 was added
gene: PRKD1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKD1 were set to Congenital heart defects and ectodermal dysplasia
Ectodermal Dysplasia v0.0 PORCN Bryony Thompson gene: PORCN was added
gene: PORCN was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia
Ectodermal Dysplasia v0.0 PAX9 Bryony Thompson gene: PAX9 was added
gene: PAX9 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX9 were set to Tooth agenesis, selective, 3
Ectodermal Dysplasia v0.0 MPLKIP Bryony Thompson gene: MPLKIP was added
gene: MPLKIP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive
Ectodermal Dysplasia v0.0 LRP6 Bryony Thompson gene: LRP6 was added
gene: LRP6 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LRP6 were set to Tooth agenesis, selective, 7
Ectodermal Dysplasia v0.0 JUP Bryony Thompson gene: JUP was added
gene: JUP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia, Naxos disease
Ectodermal Dysplasia v0.0 IFT122 Bryony Thompson gene: IFT122 was added
gene: IFT122 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2
Ectodermal Dysplasia v0.0 HR Bryony Thompson gene: HR was added
gene: HR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HR were set to Hypotrichosis 4, Atrichia with papular lesions, Alopecia universalis congenita
Ectodermal Dysplasia v0.0 HOXC13 Bryony Thompson gene: HOXC13 was added
gene: HOXC13 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9
Ectodermal Dysplasia v0.0 GJB6 Bryony Thompson gene: GJB6 was added
gene: GJB6 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GJB6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB6 were set to Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome)
Ectodermal Dysplasia v0.0 GJB2 Bryony Thompson gene: GJB2 was added
gene: GJB2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome
Ectodermal Dysplasia v0.0 EVC2 Bryony Thompson gene: EVC2 was added
gene: EVC2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, Weyers acrodental dysostosis
Ectodermal Dysplasia v0.0 EVC Bryony Thompson gene: EVC was added
gene: EVC was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EVC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Weyers acrofacial dysostosis, Ellis-van Creveld syndrome
Ectodermal Dysplasia v0.0 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2
Ectodermal Dysplasia v0.0 EDARADD Bryony Thompson gene: EDARADD was added
gene: EDARADD was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessive
Ectodermal Dysplasia v0.0 EDAR Bryony Thompson gene: EDAR was added
gene: EDAR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia, anhidrotic, Hair morphology
Ectodermal Dysplasia v0.0 EDA Bryony Thompson gene: EDA was added
gene: EDA was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective
Ectodermal Dysplasia v0.0 DSP Bryony Thompson gene: DSP was added
gene: DSP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholytic
Ectodermal Dysplasia v0.0 CDH3 Bryony Thompson gene: CDH3 was added
gene: CDH3 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia v0.0 BCS1L Bryony Thompson gene: BCS1L was added
gene: BCS1L was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1
Ectodermal Dysplasia v0.0 Bryony Thompson Added panel Ectodermal Dysplasia_RMH
Gastrointestinal neuromuscular disease v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy
Gastrointestinal neuromuscular disease v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SOX10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX10 were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 SGO1 Bryony Thompson gene: SGO1 was added
gene: SGO1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201
Gastrointestinal neuromuscular disease v0.0 RET Bryony Thompson gene: RET was added
gene: RET was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RET were set to {Hirschsprung disease, susceptibility to, 1}, 142623
Gastrointestinal neuromuscular disease v0.0 RAD21 Bryony Thompson gene: RAD21 was added
gene: RAD21 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RAD21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD21 were set to Mungan syndrome: Barrett esophagus, megaduodenum, cardiac abnormalities
Gastrointestinal neuromuscular disease v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
Gastrointestinal neuromuscular disease v0.0 MYLK Bryony Thompson gene: MYLK was added
gene: MYLK was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYLK were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210
Gastrointestinal neuromuscular disease v0.0 MYH11 Bryony Thompson gene: MYH11 was added
gene: MYH11 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYH11 were set to 31044419; 31427716; 25407000
Phenotypes for gene: MYH11 were set to Patent ductus arteriosus in 1 individual; Aortic aneurysm, familial thoracic 4, 132900
Gastrointestinal neuromuscular disease v0.0 LMOD1 Bryony Thompson gene: LMOD1 was added
gene: LMOD1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD1 were set to 28292896
Phenotypes for gene: LMOD1 were set to Megacystis microcolon intestinal hypoperistalsis syndrome
Gastrointestinal neuromuscular disease v0.0 FLNA Bryony Thompson gene: FLNA was added
gene: FLNA was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Periventricular heterotopia in males, seizures in females
Gastrointestinal neuromuscular disease v0.0 EDNRB Bryony Thompson gene: EDNRB was added
gene: EDNRB was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDNRB were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 EDN3 Bryony Thompson gene: EDN3 was added
gene: EDN3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDN3 were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 CHRM3 Bryony Thompson gene: CHRM3 was added
gene: CHRM3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRM3 were set to Posterior urethral valves & prune belly syndrome
Gastrointestinal neuromuscular disease v0.0 ACTG2 Bryony Thompson gene: ACTG2 was added
gene: ACTG2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG2 were set to Visceral myopathy, 155310
Gastrointestinal neuromuscular disease v0.0 ACTA2 Bryony Thompson gene: ACTA2 was added
gene: ACTA2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis
Gastrointestinal neuromuscular disease v0.0 Bryony Thompson Added panel Visceral Myopathy_RMH
Intellectual disability syndromic and non-syndromic v0.1538 MET Zornitza Stark Marked gene: MET as ready
Intellectual disability syndromic and non-syndromic v0.1538 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MFN2 Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MGME1 Zornitza Stark Gene: mgme1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MGP Zornitza Stark Marked gene: MGP as ready
Intellectual disability syndromic and non-syndromic v0.1538 MGP Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MID2 Zornitza Stark Marked gene: MID2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MID2 Zornitza Stark Gene: mid2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MLH1 Zornitza Stark Gene: mlh1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MNX1 Zornitza Stark Marked gene: MNX1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MNX1 Zornitza Stark Gene: mnx1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MPZ Zornitza Stark Marked gene: MPZ as ready
Intellectual disability syndromic and non-syndromic v0.1538 MPZ Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MRAP Zornitza Stark Marked gene: MRAP as ready
Intellectual disability syndromic and non-syndromic v0.1538 MRAP Zornitza Stark Gene: mrap has been classified as Red List (Low Evidence).
Usher Syndrome v0.0 WHRN Bryony Thompson gene: WHRN was added
gene: WHRN was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383
Usher Syndrome v0.0 USH2A Bryony Thompson gene: USH2A was added
gene: USH2A was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901; Retinitis pigmentosa 39, 613809
Usher Syndrome v0.0 USH1G Bryony Thompson gene: USH1G was added
gene: USH1G was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943
Usher Syndrome v0.0 USH1C Bryony Thompson gene: USH1C was added
gene: USH1C was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904
Usher Syndrome v0.0 PEX6 Bryony Thompson gene: PEX6 was added
gene: PEX6 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Heimler syndrome 2, 616617
Usher Syndrome v0.0 PEX1 Bryony Thompson gene: PEX1 was added
gene: PEX1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Heimler syndrome 1, 234580
Usher Syndrome v0.0 PDZD7 Bryony Thompson gene: PDZD7 was added
gene: PDZD7 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDZD7 were set to Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472
Usher Syndrome v0.0 PCDH15 Bryony Thompson gene: PCDH15 was added
gene: PCDH15 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome Type 1F; Usher syndrome, type 1D/F digenic
Usher Syndrome v0.0 MYO7A Bryony Thompson gene: MYO7A was added
gene: MYO7A was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900
Usher Syndrome v0.0 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS were set to Usher syndrome type 3B
Usher Syndrome v0.0 ESPN Bryony Thompson gene: ESPN was added
gene: ESPN was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESPN were set to ?Usher syndrome, type 1M, 618632; Deafness, autosomal recessive 36, 609006
Usher Syndrome v0.0 CLRN1 Bryony Thompson gene: CLRN1 was added
gene: CLRN1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to ?Usher syndrome, type 3A, 276902Retinitis pigmentosa 61, 614180
Usher Syndrome v0.0 CIB2 Bryony Thompson gene: CIB2 was added
gene: CIB2 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB2 were set to Usher syndrome, type IJ, 614869
Usher Syndrome v0.0 CEP78 Bryony Thompson gene: CEP78 was added
gene: CEP78 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-Rod Dystrophy and Hearing Loss, 617236
Usher Syndrome v0.0 CEP250 Bryony Thompson gene: CEP250 was added
gene: CEP250 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP250 were set to Usher-like disease; Cone-rod dystrophy and hearing loss 2, 618358
Usher Syndrome v0.0 CDH23 Bryony Thompson gene: CDH23 was added
gene: CDH23 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Usher syndrome, type 1D 601067; Usher syndrome, type 1D/F digenic 601067
Usher Syndrome v0.0 ARSG Bryony Thompson gene: ARSG was added
gene: ARSG was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSG were set to Usher syndrome, type IV, 618144
Usher Syndrome v0.0 ADGRV1 Bryony Thompson gene: ADGRV1 was added
gene: ADGRV1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C
Usher Syndrome v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857; Usher syndrome type 3
Usher Syndrome v0.0 Bryony Thompson Added panel Usher Syndrome_RMH
Rhabdomyolysis and Metabolic Myopathy v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Rhabdomyolysis and Metabolic Myopathy v0.0 TSFM Bryony Thompson gene: TSFM was added
gene: TSFM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 610505
Rhabdomyolysis and Metabolic Myopathy v0.0 TSEN54 Bryony Thompson gene: TSEN54 was added
gene: TSEN54 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to ?Pontocerebellar hypoplasia type 5 610204; Pontocerebellar hypoplasia type 4 225753; Pontocerebellar hypoplasia type 2A 277470
Rhabdomyolysis and Metabolic Myopathy v0.0 TK2 Bryony Thompson gene: TK2 was added
gene: TK2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Rhabdomyolysis and Metabolic Myopathy v0.0 TANGO2 Bryony Thompson gene: TANGO2 was added
gene: TANGO2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878
Rhabdomyolysis and Metabolic Myopathy v0.0 SUCLA2 Bryony Thompson gene: SUCLA2 was added
gene: SUCLA2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Rhabdomyolysis and Metabolic Myopathy v0.0 SLC22A5 Bryony Thompson gene: SLC22A5 was added
gene: SLC22A5 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary 212140
Rhabdomyolysis and Metabolic Myopathy v0.0 SIL1 Bryony Thompson gene: SIL1 was added
gene: SIL1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome 248800
Rhabdomyolysis and Metabolic Myopathy v0.0 SCN4A Bryony Thompson gene: SCN4A was added
gene: SCN4A was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN4A were set to Paramyotonia congenita, 168300; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Myasthenic syndrome, congenital, 16, 614198; Hyperkalemic periodic paralysis, type 2, 170500
Rhabdomyolysis and Metabolic Myopathy v0.0 RYR1 Bryony Thompson gene: RYR1 was added
gene: RYR1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, 145600; Central core disease, 117000; King-Denborough syndrome, 145600; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Minicore myopathy with external ophthalmoplegia, 255320
Rhabdomyolysis and Metabolic Myopathy v0.0 RRM2B Bryony Thompson gene: RRM2B was added
gene: RRM2B was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Rhabdomyolysis and Metabolic Myopathy v0.0 RBCK1 Bryony Thompson gene: RBCK1 was added
gene: RBCK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Rhabdomyolysis and Metabolic Myopathy v0.0 PYGM Bryony Thompson gene: PYGM was added
gene: PYGM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to Glycogen storage disease V McArdle disease 232600 AR
Rhabdomyolysis and Metabolic Myopathy v0.0 PRKAG2 Bryony Thompson gene: PRKAG2 was added
gene: PRKAG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome 194200; Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740
Rhabdomyolysis and Metabolic Myopathy v0.0 POLG2 Bryony Thompson gene: POLG2 was added
gene: POLG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Rhabdomyolysis and Metabolic Myopathy v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal dominant 1 157640; Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Progressive external ophthalmoplegia, autosomal recessive 1 258450
Rhabdomyolysis and Metabolic Myopathy v0.0 PHKB Bryony Thompson gene: PHKB was added
gene: PHKB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
Rhabdomyolysis and Metabolic Myopathy v0.0 PHKA1 Bryony Thompson gene: PHKA1 was added
gene: PHKA1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHKA1 were set to Muscle glycogenosis 300559
Rhabdomyolysis and Metabolic Myopathy v0.0 PGM1 Bryony Thompson gene: PGM1 was added
gene: PGM1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It 614921
Rhabdomyolysis and Metabolic Myopathy v0.0 PGK1 Bryony Thompson gene: PGK1 was added
gene: PGK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653
Rhabdomyolysis and Metabolic Myopathy v0.0 PGAM2 Bryony Thompson gene: PGAM2 was added
gene: PGAM2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAM2 were set to Glycogen storage disease X 261670
Rhabdomyolysis and Metabolic Myopathy v0.0 PFKM Bryony Thompson gene: PFKM was added
gene: PFKM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII 232800
Rhabdomyolysis and Metabolic Myopathy v0.0 LPIN1 Bryony Thompson gene: LPIN1 was added
gene: LPIN1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive 268200
Rhabdomyolysis and Metabolic Myopathy v0.0 LDHA Bryony Thompson gene: LDHA was added
gene: LDHA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHA were set to Glycogen storage disease XI 612933
Rhabdomyolysis and Metabolic Myopathy v0.0 LAMP2 Bryony Thompson gene: LAMP2 was added
gene: LAMP2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: LAMP2 were set to Danon disease 300257
Rhabdomyolysis and Metabolic Myopathy v0.0 ISCU Bryony Thompson gene: ISCU was added
gene: ISCU was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary 255125
Rhabdomyolysis and Metabolic Myopathy v0.0 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015
Rhabdomyolysis and Metabolic Myopathy v0.0 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015
Rhabdomyolysis and Metabolic Myopathy v0.0 GYS1 Bryony Thompson gene: GYS1 was added
gene: GYS1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle 611556
Rhabdomyolysis and Metabolic Myopathy v0.0 GYG1 Bryony Thompson gene: GYG1 was added
gene: GYG1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199
Rhabdomyolysis and Metabolic Myopathy v0.0 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV 232500
Rhabdomyolysis and Metabolic Myopathy v0.0 GAA Bryony Thompson gene: GAA was added
gene: GAA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II 232300
Rhabdomyolysis and Metabolic Myopathy v0.0 FKTN Bryony Thompson gene: FKTN was added
gene: FKTN was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Fukuyama congenital muscular dystrophy