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Mendeliome v0.5758 SLC35C1 Zornitza Stark reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Marked gene: SLC35C1 as ready
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Gene: slc35c1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Congenital Disorders of Glycosylation v0.353 SLC35C1 Zornitza Stark Publications for gene: SLC35C1 were set to
Congenital Disorders of Glycosylation v0.352 SLC35C1 Zornitza Stark Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.351 SLC35C1 Zornitza Stark reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5758 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II , MIM#224100 to Dyserythropoietic anemia, congenital, type II , MIM#224100; Cowden syndrome 7, MIM# 616858
Mendeliome v0.5757 SEC23B Zornitza Stark Publications for gene: SEC23B were set to 19561605; 19621418
Mendeliome v0.5756 SEC23B Zornitza Stark edited their review of gene: SEC23B: Changed phenotypes: Dyserythropoietic anemia, congenital, type II , MIM#224100, Cowden syndrome 7, MIM# 616858
Mendeliome v0.5756 SEC23B Zornitza Stark edited their review of gene: SEC23B: Changed publications: 19561605, 19621418, 26522472
Mendeliome v0.5756 SEC23B Zornitza Stark changed review comment from: Over 20 families reported.; to: Bi-allelic variants and anaemia: Over 20 families reported.

Mono-allelic variants: three families reported with heterozygous missense variants, however note these are present in gnomad. In the case of one of the variants, >2,000 hets. LIMITED evidence for disease association.
Congenital Disorders of Glycosylation v0.351 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Congenital Disorders of Glycosylation v0.351 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.351 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Congenital Disorders of Glycosylation v0.350 SEC23B Zornitza Stark Publications for gene: SEC23B were set to
Congenital Disorders of Glycosylation v0.349 SEC23B Zornitza Stark Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.348 SEC23B Zornitza Stark reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418; Phenotypes: Dyserythropoietic anemia, congenital, type II 224100, COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Mode of inheritance: None
Mendeliome v0.5756 GNE Zornitza Stark Marked gene: GNE as ready
Mendeliome v0.5756 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Mendeliome v0.5756 GNE Zornitza Stark Phenotypes for gene: GNE were changed from to Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Mendeliome v0.5755 GNE Zornitza Stark Publications for gene: GNE were set to
Mendeliome v0.5754 GNE Zornitza Stark Mode of inheritance for gene: GNE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.348 GNE Zornitza Stark Marked gene: GNE as ready
Congenital Disorders of Glycosylation v0.348 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.348 GNE Zornitza Stark Phenotypes for gene: GNE were changed from to Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Mendeliome v0.5753 GNE Zornitza Stark reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12177386, 12473753, 32053088, 29923088, 10356312, 11326336, 11486897, 27142465; Phenotypes: Nonaka myopathy 605820, Sialuria MIM#269921, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.347 GNE Zornitza Stark Publications for gene: GNE were set to
Congenital Disorders of Glycosylation v0.347 GNE Zornitza Stark Mode of inheritance for gene: GNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.346 GNE Zornitza Stark reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12177386, 12473753, 32053088, 29923088, 10356312, 11326336, 11486897, 27142465; Phenotypes: Nonaka myopathy 605820, Sialuria MIM#269921, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.346 GALNT3 Zornitza Stark Marked gene: GALNT3 as ready
Congenital Disorders of Glycosylation v0.346 GALNT3 Zornitza Stark Gene: galnt3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.346 GALNT3 Zornitza Stark Phenotypes for gene: GALNT3 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Congenital Disorders of Glycosylation v0.345 GALNT3 Zornitza Stark Publications for gene: GALNT3 were set to
Congenital Disorders of Glycosylation v0.344 GALNT3 Zornitza Stark Mode of inheritance for gene: GALNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.343 GALNT3 Zornitza Stark reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15133511, 20358599, 32125652; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.343 FKRP Zornitza Stark Marked gene: FKRP as ready
Congenital Disorders of Glycosylation v0.343 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.343 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Congenital Disorders of Glycosylation v0.342 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.341 FKRP Zornitza Stark reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.341 FKTN Zornitza Stark Marked gene: FKTN as ready
Congenital Disorders of Glycosylation v0.341 FKTN Zornitza Stark Gene: fktn has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.341 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
Congenital Disorders of Glycosylation v0.340 FKTN Zornitza Stark Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.339 FKTN Zornitza Stark reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.339 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Congenital Disorders of Glycosylation v0.339 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.339 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from to Seizures, scoliosis, and macrocephaly syndrome 616682; Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Congenital Disorders of Glycosylation v0.338 EXT2 Zornitza Stark Publications for gene: EXT2 were set to
Congenital Disorders of Glycosylation v0.337 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.336 EXT2 Zornitza Stark reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30288735, 30075207, 26246518; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome 616682, Exostoses, multiple, type 2 133701, Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3329 EXT2 Zornitza Stark Publications for gene: EXT2 were set to
Intellectual disability syndromic and non-syndromic v0.3328 EXT2 Zornitza Stark edited their review of gene: EXT2: Changed publications: 30288735, 30075207, 26246518
Mendeliome v0.5753 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Mendeliome v0.5753 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Mendeliome v0.5753 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5752 EXT2 Zornitza Stark edited their review of gene: EXT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.336 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Congenital Disorders of Glycosylation v0.336 EXT1 Zornitza Stark Gene: ext1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.336 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from to Exostoses, multiple, type 1 133700; Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Congenital Disorders of Glycosylation v0.335 EXT1 Zornitza Stark Publications for gene: EXT1 were set to
Congenital Disorders of Glycosylation v0.334 EXT1 Zornitza Stark Mode of inheritance for gene: EXT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Disorders of Glycosylation v0.333 EXT1 Zornitza Stark reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550340, 9521425; Phenotypes: Exostoses, multiple, type 1 133700, Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Marked gene: TBL1X as ready
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Classified gene: TBL1X as Green List (high evidence)
Pituitary hormone deficiency v0.9 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.8 TBL1X Zornitza Stark reviewed gene: TBL1X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.5752 TBL1X Zornitza Stark Marked gene: TBL1X as ready
Mendeliome v0.5752 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Mendeliome v0.5752 TBL1X Zornitza Stark Classified gene: TBL1X as Green List (high evidence)
Mendeliome v0.5752 TBL1X Zornitza Stark Gene: tbl1x has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Classified gene: CHSY1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.40 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.39 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHSY1 were set to 21129728; 21129727; 24269551
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Review for gene: CHSY1 was set to GREEN
Added comment: Skeletal anomalies, dysmorphic features and deafness. More than 5 unrelated families reported.
Sources: Expert Review
Callosome v0.236 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Callosome v0.235 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Callosome v0.235 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Red List (Low Evidence).
Callosome v0.235 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Callosome v0.234 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Callosome v0.233 CHSY1 Zornitza Stark Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.232 CHSY1 Zornitza Stark Classified gene: CHSY1 as Red List (low evidence)
Callosome v0.232 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Red List (Low Evidence).
Callosome v0.231 CHSY1 Zornitza Stark reviewed gene: CHSY1: Rating: RED; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5751 CHSY1 Zornitza Stark edited their review of gene: CHSY1: Changed phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Mendeliome v0.5751 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Mendeliome v0.5751 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Mendeliome v0.5751 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Mendeliome v0.5750 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Mendeliome v0.5749 CHSY1 Zornitza Stark Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5748 CHSY1 Zornitza Stark reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: VTemtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.333 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Congenital Disorders of Glycosylation v0.333 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.333 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Congenital Disorders of Glycosylation v0.332 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Congenital Disorders of Glycosylation v0.331 CHSY1 Zornitza Stark Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.330 CHSY1 Zornitza Stark reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5748 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Mendeliome v0.5748 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Mendeliome v0.5748 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from to Developmental delay and seizures with or without movement abnormalities, MIM#617836; Congenital disorder of glycosylation, type 1bb, MIM# 613861
Mendeliome v0.5747 DHDDS Zornitza Stark Publications for gene: DHDDS were set to
Mendeliome v0.5746 DHDDS Zornitza Stark Mode of inheritance for gene: DHDDS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5745 DHDDS Zornitza Stark Tag founder tag was added to gene: DHDDS.
Mendeliome v0.5745 DHDDS Zornitza Stark edited their review of gene: DHDDS: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5745 DHDDS Zornitza Stark reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27343064, 29100083, 21295283; Phenotypes: Developmental delay and seizures with or without movement abnormalities, MIM#617836, Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5745 FBLN1 Zornitza Stark Publications for gene: FBLN1 were set to 11836357
Mendeliome v0.5744 FBLN1 Zornitza Stark Mode of inheritance for gene: FBLN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5743 FBLN1 Zornitza Stark reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: 24084572; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark edited their review of gene: FBLN1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark changed review comment from: Single association to disease published in literature - reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family. The breakpoint was located in the intron between the last 2 exons of the FBLN1-D splice variant isoform (exons 19-20). Additional pathogenic missense in ClinVar, but a research finding and inherited; to: Single association of mono-allelic variants to disease published in literature - reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family. The breakpoint was located in the intron between the last 2 exons of the FBLN1-D splice variant isoform (exons 19-20). Additional pathogenic missense in ClinVar, but a research finding and inherited.

Single report of homozygous missense in a family with syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy.
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark edited their review of gene: FBLN1: Changed publications: 11836357, 24084572
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Marked gene: FBLN1 as ready
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Classified gene: FBLN1 as Red List (low evidence)
Skeletal dysplasia v0.70 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.69 FBLN1 Zornitza Stark reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: 11836357; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5743 FBLN1 Zornitza Stark Marked gene: FBLN1 as ready
Mendeliome v0.5743 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Mendeliome v0.5743 FBLN1 Zornitza Stark Phenotypes for gene: FBLN1 were changed from to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180
Mendeliome v0.5742 FBLN1 Zornitza Stark Publications for gene: FBLN1 were set to
Mendeliome v0.5741 FBLN1 Zornitza Stark Mode of inheritance for gene: FBLN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5740 FBLN1 Zornitza Stark Classified gene: FBLN1 as Red List (low evidence)
Mendeliome v0.5740 FBLN1 Zornitza Stark Gene: fbln1 has been classified as Red List (Low Evidence).
Regression v0.222 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Pituitary hormone deficiency v0.8 TBL1X Elena Savva gene: TBL1X was added
gene: TBL1X was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: TBL1X 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: TBL1X were set to PMID: 27603907
Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Review for gene: TBL1X was set to GREEN
Added comment: PMID: 27603907 - mostly males but also a female diagnosed with central hypothyroidism. 6 families reported (5/6 missense, 1/6 splice). Supported by functional studies ->LOF

All mutations were located in the highly conserved WD40-repeat domains.
Sources: Literature
Mendeliome v0.5739 TBL1X Elena Savva gene: TBL1X was added
gene: TBL1X was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TBL1X 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: TBL1X were set to PMID: 27603907
Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 MIM#301033
Review for gene: TBL1X was set to GREEN
Added comment: PMID: 27603907 - mostly males but also a female diagnosed with central hypothyroidism. 6 families reported (5/6 missense, 1/6 splice). Supported by functional studies ->LOF

All mutations were located in the highly conserved WD40-repeat domains.
Sources: Literature
Regression v0.222 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Regression v0.222 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Regression v0.222 ST3GAL5 Zornitza Stark Classified gene: ST3GAL5 as Green List (high evidence)
Regression v0.222 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Regression v0.221 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST3GAL5 were set to 23436467; 22990144; 15502825; 27232954; 30691927; 30688114; 30576498
Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Review for gene: ST3GAL5 was set to GREEN
Added comment: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3328 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from Salt and pepper developmental regression syndrome; OMIM #609056 to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Intellectual disability syndromic and non-syndromic v0.3327 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to PubMed: 15502825; 22990144; 24026681; 27232954; 30185102; 24026681
Intellectual disability syndromic and non-syndromic v0.3326 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Intellectual disability syndromic and non-syndromic v0.3326 ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Genetic Epilepsy v0.982 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Genetic Epilepsy v0.982 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Genetic Epilepsy v0.982 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.982 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Genetic Epilepsy v0.981 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Genetic Epilepsy v0.980 ST3GAL5 Zornitza Stark Mode of inheritance for gene: ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.979 ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Mendeliome v0.5739 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Mendeliome v0.5738 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Mendeliome v0.5737 ST3GAL5 Zornitza Stark Mode of inheritance for gene: ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5736 ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Congenital Disorders of Glycosylation v0.329 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Congenital Disorders of Glycosylation v0.328 ST3GAL5 Zornitza Stark Mode of inheritance for gene: ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.327 ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5736 FBLN1 Elena Savva reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 11836357; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.3326 DPYD Ain Roesley reviewed gene: DPYD: Rating: AMBER; Mode of pathogenicity: None; Publications: 10071185, 25565930, 30349988, 28275972, 17065071, 21114665, 22003227, 28123791; Phenotypes: Dihydropyrimidine dehydrogenase deficiency (MIM#274270); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.75 C1QBP Shannon LeBlanc gene: C1QBP was added
gene: C1QBP was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to PMID: 28942965
Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM# 617713
Review for gene: C1QBP was set to GREEN
Added comment: Highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. PEO onset has been reported in childhood.
Sources: Literature
Congenital ophthalmoplegia v0.75 SLC18A3 Shannon LeBlanc gene: SLC18A3 was added
gene: SLC18A3 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to PMID: 27590285; 20123977; 28188302; 31059209
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic OMIM 617239
Review for gene: SLC18A3 was set to GREEN
Added comment: congenital myasthenic syndrome - ptosis and ophthalmoplegia are common features.

Three families with bi-allelic variants and a mouse model support gene-disease association. Fetal akinesia reported in association with LOF variants.
Sources: Literature
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Classified gene: SUCLA2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.38 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.37 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to 15877282; 17287286; 17301081; 23759946; 33231368; 33230181; 28243576; 27913098; 27651038
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Review for gene: SUCLA2 was set to GREEN
Added comment: Bi-allelic variants in this gene are associated with a disorder characterised by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction. More than 10 unrelated families reported.
Sources: Expert Review
Mendeliome v0.5736 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Mendeliome v0.5736 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Mendeliome v0.5736 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Mendeliome v0.5735 SUCLA2 Zornitza Stark Publications for gene: SUCLA2 were set to
Mendeliome v0.5734 SUCLA2 Zornitza Stark Mode of inheritance for gene: SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5733 SUCLA2 Zornitza Stark edited their review of gene: SUCLA2: Changed phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Mendeliome v0.5733 SUCLA2 Zornitza Stark reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877282, 17287286, 17301081, 23759946, 33231368, 33230181, 28243576, 27913098, 27651038; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.75 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Congenital ophthalmoplegia v0.75 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.75 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM 612073
Congenital ophthalmoplegia v0.74 SUCLA2 Zornitza Stark Classified gene: SUCLA2 as Green List (high evidence)
Congenital ophthalmoplegia v0.74 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Classified gene: RFT1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.36 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.35 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFT1 were set to 18313027; 19701946; 19856127; 23111317; 30071302; 29923091; 27927990; 26892341
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Review for gene: RFT1 was set to GREEN
Added comment: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3326 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Intellectual disability syndromic and non-syndromic v0.3326 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3326 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Intellectual disability syndromic and non-syndromic v0.3325 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Intellectual disability syndromic and non-syndromic v0.3324 RFT1 Zornitza Stark Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3323 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.979 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Genetic Epilepsy v0.979 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.979 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Genetic Epilepsy v0.978 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Genetic Epilepsy v0.977 RFT1 Zornitza Stark Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.976 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5733 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Mendeliome v0.5733 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Mendeliome v0.5733 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Mendeliome v0.5732 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Mendeliome v0.5731 RFT1 Zornitza Stark Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5730 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.327 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Congenital Disorders of Glycosylation v0.327 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.327 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Congenital Disorders of Glycosylation v0.326 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Congenital Disorders of Glycosylation v0.325 RFT1 Zornitza Stark Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.324 RFT1 Zornitza Stark edited their review of gene: RFT1: Changed phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783
Congenital ophthalmoplegia v0.73 BIN1 Shannon LeBlanc gene: BIN1 was added
gene: BIN1 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIN1 were set to PMID 29950440
Phenotypes for gene: BIN1 were set to Centronuclear myopathy 2, MIM 255200
Review for gene: BIN1 was set to GREEN
Added comment: Wide range at onset from neonatal to adulthood with usually mild, slowly progressive proximal limb weakness and ophthalmoparesis
Sources: Literature
Congenital Disorders of Glycosylation v0.324 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.73 SUCLA2 Shannon LeBlanc reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301762; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.73 SUCLA2 Shannon LeBlanc Deleted their review
Congenital Disorders of Glycosylation v0.324 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Congenital Disorders of Glycosylation v0.324 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.324 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
Congenital Disorders of Glycosylation v0.323 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.322 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.322 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Congenital Disorders of Glycosylation v0.322 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.322 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
Congenital Disorders of Glycosylation v0.321 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.320 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.73 SUCLA2 Shannon LeBlanc gene: SUCLA2 was added
gene: SUCLA2 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to PMID: 20301762
Review for gene: SUCLA2 was set to GREEN
Added comment: Infantile onset. External ophthalmoplegia is feature in up to 25% of patients.
Sources: Literature
Congenital ophthalmoplegia v0.73 SURF1 Shannon LeBlanc gene: SURF1 was added
gene: SURF1 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SURF1 were set to PMID: 10746561; 29933018; 33134083
Phenotypes for gene: SURF1 were set to Mitochondrial complex IV deficiency, nuclear type 1 OMIM 220110
Review for gene: SURF1 was set to GREEN
Added comment: Oculomotor abnormalities such as slow saccades, ophthalmoparesis or complex irregular eye movements are a feature.
Sources: Literature
Mendeliome v0.5730 CHST6 Zornitza Stark Marked gene: CHST6 as ready
Mendeliome v0.5730 CHST6 Zornitza Stark Gene: chst6 has been classified as Green List (High Evidence).
Mendeliome v0.5730 CHST6 Zornitza Stark Phenotypes for gene: CHST6 were changed from to Macular corneal dystrophy, MIM# 217800, MONDO:0009020
Mendeliome v0.5729 CHST6 Zornitza Stark Publications for gene: CHST6 were set to
Mendeliome v0.5728 CHST6 Zornitza Stark Mode of inheritance for gene: CHST6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5727 CHST6 Zornitza Stark reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11818380, 16207214, 26604660; Phenotypes: Macular corneal dystrophy, MIM# 217800, MONDO:0009020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.35 CHST6 Zornitza Stark Marked gene: CHST6 as ready
Corneal Dystrophy v0.35 CHST6 Zornitza Stark Gene: chst6 has been classified as Green List (High Evidence).
Corneal Dystrophy v0.35 CHST6 Zornitza Stark Phenotypes for gene: CHST6 were changed from to Macular corneal dystrophy, MIM# 217800, MONDO:0009020
Corneal Dystrophy v0.34 CHST6 Zornitza Stark Publications for gene: CHST6 were set to
Corneal Dystrophy v0.33 CHST6 Zornitza Stark Mode of inheritance for gene: CHST6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Corneal Dystrophy v0.32 CHST6 Zornitza Stark reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11818380, 16207214, 26604660; Phenotypes: Macular corneal dystrophy, MIM# 217800, MONDO:0009020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.320 CHST6 Zornitza Stark Marked gene: CHST6 as ready
Congenital Disorders of Glycosylation v0.320 CHST6 Zornitza Stark Gene: chst6 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.320 CHST6 Zornitza Stark Phenotypes for gene: CHST6 were changed from to Macular corneal dystrophy, MIM# 217800, MONDO:0009020
Congenital Disorders of Glycosylation v0.319 CHST6 Zornitza Stark Publications for gene: CHST6 were set to
Congenital Disorders of Glycosylation v0.318 CHST6 Zornitza Stark Mode of inheritance for gene: CHST6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.317 CHST6 Zornitza Stark reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11818380, 16207214, 26604660; Phenotypes: Macular corneal dystrophy, MIM# 217800, MONDO:0009020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.317 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Congenital Disorders of Glycosylation v0.317 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.317 GMPPB Zornitza Stark Phenotypes for gene: GMPPB were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Congenital Disorders of Glycosylation v0.316 GMPPB Zornitza Stark Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.315 GMPPB Zornitza Stark reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.187 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Additional findings_Paediatric v0.187 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.187 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from CDG syndrome type IIa to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Additional findings_Paediatric v0.186 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Additional findings_Paediatric v0.185 MGAT2 Zornitza Stark Classified gene: MGAT2 as Green List (high evidence)
Additional findings_Paediatric v0.185 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.184 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3323 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Intellectual disability syndromic and non-syndromic v0.3323 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3323 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Intellectual disability syndromic and non-syndromic v0.3322 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Intellectual disability syndromic and non-syndromic v0.3321 MGAT2 Zornitza Stark Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3320 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5727 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Mendeliome v0.5727 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Mendeliome v0.5727 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Mendeliome v0.5726 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Mendeliome v0.5725 MGAT2 Zornitza Stark Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5724 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.314 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to 8808595; 11228641; 22105986
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark edited their review of gene: MGAT2: Changed publications: 8808595, 11228641, 22105986, 33044030, 31420886
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark changed review comment from: Bi-allelic variants in this gene cause a disorder characterised by intellectual disability, seizures, dysmorphic features, growth retardation, skeletal anomalies.; to: Bi-allelic variants in this gene cause a disorder characterised by intellectual disability, seizures, dysmorphic features, growth retardation, skeletal anomalies. One individual reported with immune dysfunction, and one with hydrops.
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark edited their review of gene: MGAT2: Changed publications: 8808595, 11228641, 22105986, 33044030
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Congenital Disorders of Glycosylation v0.312 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Congenital Disorders of Glycosylation v0.311 MGAT2 Zornitza Stark Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.310 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Marked gene: MPI as ready
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Classified gene: MPI as Green List (high evidence)
Bleeding and Platelet Disorders v0.208 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.207 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Bleeding and Platelet Disorders. Sources: Expert Review
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 12414827; 9585601; 10980531; 33098580; 33204592; 32905087; 32266963; 30242110
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Review for gene: MPI was set to GREEN
Added comment: CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhoea with failure to thrive and protein-losing enteropathy with coagulopathy. Both bleeding and thrombosis reported. Some individuals develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated.

Well established gene-disease association, numerous families reported.
Sources: Expert Review
Congenital Diarrhoea v0.12 MPI Zornitza Stark Marked gene: MPI as ready
Congenital Diarrhoea v0.12 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.12 MPI Zornitza Stark Classified gene: MPI as Green List (high evidence)
Congenital Diarrhoea v0.12 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.11 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Congenital Diarrhoea. Sources: Expert Review
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 12414827; 9585601; 10980531; 33098580; 33204592; 32905087; 32266963; 30242110
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Review for gene: MPI was set to GREEN
Added comment: CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhoea with failure to thrive and protein-losing enteropathy with coagulopathy. Some individuals develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated.

Well established gene-disease association, numerous families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3320 MPI Zornitza Stark Marked gene: MPI as ready
Intellectual disability syndromic and non-syndromic v0.3320 MPI Zornitza Stark Gene: mpi has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3320 MPI Zornitza Stark Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Intellectual disability syndromic and non-syndromic v0.3319 MPI Zornitza Stark Publications for gene: MPI were set to
Intellectual disability syndromic and non-syndromic v0.3318 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3317 MPI Zornitza Stark Classified gene: MPI as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.3317 MPI Zornitza Stark Gene: mpi has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3316 MPI Zornitza Stark reviewed gene: MPI: Rating: RED; Mode of pathogenicity: None; Publications: 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579, MPI-CDG MONDO:0011257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5724 MPI Zornitza Stark Marked gene: MPI as ready
Mendeliome v0.5724 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Mendeliome v0.5724 MPI Zornitza Stark Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Mendeliome v0.5723 MPI Zornitza Stark Publications for gene: MPI were set to
Mendeliome v0.5722 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5721 MPI Zornitza Stark reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579, MPI-CDG MONDO:0011257; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark edited their review of gene: MPI: Changed phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579, MPI-CDG MONDO:0011257
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark Marked gene: MPI as ready
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Congenital Disorders of Glycosylation v0.309 MPI Zornitza Stark Publications for gene: MPI were set to
Congenital Disorders of Glycosylation v0.308 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.308 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.307 MPI Zornitza Stark reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.307 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Congenital Disorders of Glycosylation v0.307 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.307 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
Congenital Disorders of Glycosylation v0.306 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.305 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.305 ISPD Zornitza Stark Marked gene: ISPD as ready
Congenital Disorders of Glycosylation v0.305 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.305 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052
Congenital Disorders of Glycosylation v0.304 ISPD Zornitza Stark Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.303 ISPD Zornitza Stark reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135
Congenital Disorders of Glycosylation v0.302 POMGNT2 Zornitza Stark Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.301 POMGNT2 Zornitza Stark reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.301 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Congenital Disorders of Glycosylation v0.301 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.301 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
Congenital Disorders of Glycosylation v0.300 POMGNT1 Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.299 POMGNT1 Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3316 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Intellectual disability syndromic and non-syndromic v0.3316 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3316 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Intellectual disability syndromic and non-syndromic v0.3315 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Intellectual disability syndromic and non-syndromic v0.3314 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3313 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.171 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Combined Immunodeficiency v0.171 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.171 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Combined Immunodeficiency v0.170 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Combined Immunodeficiency v0.169 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.168 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5721 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Mendeliome v0.5721 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Mendeliome v0.5721 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Mendeliome v0.5720 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Mendeliome v0.5719 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5718 PGM3 Zornitza Stark changed review comment from: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity. More than 10 unrelated families reported.; to: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation.

Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity.

More than 10 unrelated families reported.
Mendeliome v0.5718 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.299 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from Immunodeficiency 23, MIM# 615816 to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark edited their review of gene: PGM3: Changed phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816
Congenital Disorders of Glycosylation v0.297 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Congenital Disorders of Glycosylation v0.296 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.295 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3313 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Intellectual disability syndromic and non-syndromic v0.3313 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3313 PGAP3 Zornitza Stark Phenotypes for gene: PGAP3 were changed from to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Intellectual disability syndromic and non-syndromic v0.3312 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to 24439110; 29620724; 30345601; 30217754
Intellectual disability syndromic and non-syndromic v0.3311 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Genetic Epilepsy v0.976 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Genetic Epilepsy v0.976 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.976 PGAP3 Zornitza Stark Classified gene: PGAP3 as Green List (high evidence)
Genetic Epilepsy v0.976 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3310 PGAP3 Zornitza Stark Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.975 PGAP3 Zornitza Stark gene: PGAP3 was added
gene: PGAP3 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP3 were set to 24439110; 29620724; 30345601; 30217754
Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Review for gene: PGAP3 was set to GREEN
Added comment: Bi-allelic variants in this gene are associated with severe DD/ID, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase. More than 15 unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3309 PGAP3 Zornitza Stark reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5718 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Mendeliome v0.5718 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Mendeliome v0.5718 PGAP3 Zornitza Stark Phenotypes for gene: PGAP3 were changed from to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Mendeliome v0.5717 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Mendeliome v0.5716 PGAP3 Zornitza Stark Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5715 PGAP3 Zornitza Stark reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.295 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Congenital Disorders of Glycosylation v0.295 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.295 PGAP3 Zornitza Stark Phenotypes for gene: PGAP3 were changed from to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Congenital Disorders of Glycosylation v0.294 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Congenital Disorders of Glycosylation v0.293 PGAP3 Zornitza Stark Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark edited their review of gene: PGAP3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark edited their review of gene: PGAP3: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark edited their review of gene: PGAP3: Changed rating: GREEN
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark reviewed gene: PGAP3: Rating: ; Mode of pathogenicity: None; Publications: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716; Mode of inheritance: None
Genetic Epilepsy v0.974 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Genetic Epilepsy v0.974 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.974 PGAP2 Zornitza Stark Classified gene: PGAP2 as Amber List (moderate evidence)
Genetic Epilepsy v0.974 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.973 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP2 were set to 23561846; 23561847; 31805394; 29119105; 27871432
Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Review for gene: PGAP2 was set to AMBER
Added comment: Bi-allelic variants in this gene are typically associated with severe DD/ID, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase, although presentations with milder ID have also been reported. More than 10 unrelated families reported.

Although HPMRS disorders are frequently associated with seizures, this seems a less frequently reported feature associated with variants in this gene.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3309 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Intellectual disability syndromic and non-syndromic v0.3309 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3309 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Intellectual disability syndromic and non-syndromic v0.3308 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Intellectual disability syndromic and non-syndromic v0.3307 PGAP2 Zornitza Stark Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3306 PGAP2 Zornitza Stark reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5715 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Mendeliome v0.5715 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Mendeliome v0.5715 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Mendeliome v0.5714 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Mendeliome v0.5713 PGAP2 Zornitza Stark Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5712 PGAP2 Zornitza Stark reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.292 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207 to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark edited their review of gene: PGAP2: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207
Congenital Disorders of Glycosylation v0.290 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Congenital Disorders of Glycosylation v0.289 PGAP2 Zornitza Stark Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.288 PGAP2 Zornitza Stark reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.972 PIGV Zornitza Stark Marked gene: PIGV as ready
Genetic Epilepsy v0.972 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Genetic Epilepsy v0.972 PIGV Zornitza Stark Classified gene: PIGV as Green List (high evidence)
Genetic Epilepsy v0.972 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Genetic Epilepsy v0.971 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGV were set to 20802478; 22315194; 28817240; 24129430
Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Review for gene: PIGV was set to GREEN
Added comment: Bi-allelic variants in this gene are associated with intellectual disability, seizures, hypotonia, and hyperphosphatasia. Other features include facial dysmorphism, variable degrees of brachytelephalangy and congenital anomalies.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3306 PIGV Zornitza Stark Marked gene: PIGV as ready
Intellectual disability syndromic and non-syndromic v0.3306 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3306 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Intellectual disability syndromic and non-syndromic v0.3305 PIGV Zornitza Stark Publications for gene: PIGV were set to
Intellectual disability syndromic and non-syndromic v0.3304 PIGV Zornitza Stark Mode of inheritance for gene: PIGV was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3303 PIGV Zornitza Stark reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 20802478, 22315194, 28817240, 24129430; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5712 PIGV Zornitza Stark Marked gene: PIGV as ready
Mendeliome v0.5712 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Mendeliome v0.5712 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Mendeliome v0.5711 PIGV Zornitza Stark Publications for gene: PIGV were set to
Mendeliome v0.5710 PIGV Zornitza Stark Mode of inheritance for gene: PIGV was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5709 PIGV Zornitza Stark reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 20802478, 22315194, 28817240, 24129430; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark edited their review of gene: PIGV: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark Marked gene: PIGV as ready
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300 to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Congenital Disorders of Glycosylation v0.287 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300
Congenital Disorders of Glycosylation v0.286 PIGV Zornitza Stark Publications for gene: PIGV were set to
Congenital Disorders of Glycosylation v0.285 PIGV Zornitza Stark Mode of inheritance for gene: PIGV was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.284 PIGV Zornitza Stark reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 20802478, 22315194, 28817240, 24129430; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3303 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Intellectual disability syndromic and non-syndromic v0.3302 PIGT Zornitza Stark edited their review of gene: PIGT: Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Genetic Epilepsy v0.970 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Genetic Epilepsy v0.969 PIGT Zornitza Stark edited their review of gene: PIGT: Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Mendeliome v0.5709 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Mendeliome v0.5708 PIGT Zornitza Stark edited their review of gene: PIGT: Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Congenital Disorders of Glycosylation v0.284 PIGT Zornitza Stark Marked gene: PIGT as ready
Congenital Disorders of Glycosylation v0.284 PIGT Zornitza Stark Gene: pigt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.284 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Genetic Epilepsy v0.969 PIGO Zornitza Stark Marked gene: PIGO as ready
Genetic Epilepsy v0.969 PIGO Zornitza Stark Gene: pigo has been classified as Green List (High Evidence).
Genetic Epilepsy v0.969 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Genetic Epilepsy v0.968 PIGO Zornitza Stark Publications for gene: PIGO were set to
Genetic Epilepsy v0.967 PIGO Zornitza Stark Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.966 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3302 PIGO Zornitza Stark Marked gene: PIGO as ready
Intellectual disability syndromic and non-syndromic v0.3302 PIGO Zornitza Stark Gene: pigo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3302 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Intellectual disability syndromic and non-syndromic v0.3301 PIGO Zornitza Stark Publications for gene: PIGO were set to
Intellectual disability syndromic and non-syndromic v0.3300 PIGO Zornitza Stark Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3299 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5708 PIGO Zornitza Stark Marked gene: PIGO as ready
Mendeliome v0.5708 PIGO Zornitza Stark Gene: pigo has been classified as Green List (High Evidence).
Mendeliome v0.5708 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Mendeliome v0.5707 PIGO Zornitza Stark Publications for gene: PIGO were set to
Mendeliome v0.5706 PIGO Zornitza Stark Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5705 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.283 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749 to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark edited their review of gene: PIGO: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark Marked gene: PIGO as ready
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark Gene: pigo has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749
Congenital Disorders of Glycosylation v0.281 PIGO Zornitza Stark Publications for gene: PIGO were set to
Congenital Disorders of Glycosylation v0.280 PIGO Zornitza Stark Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.279 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3299 PIGN Zornitza Stark Marked gene: PIGN as ready
Intellectual disability syndromic and non-syndromic v0.3299 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3299 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563
Intellectual disability syndromic and non-syndromic v0.3298 PIGN Zornitza Stark Publications for gene: PIGN were set to
Intellectual disability syndromic and non-syndromic v0.3297 PIGN Zornitza Stark Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3296 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5705 PIGN Zornitza Stark Tag SV/CNV tag was added to gene: PIGN.
Tag founder tag was added to gene: PIGN.
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like. Intragenic deletion is a common founder variant in La Reunion island.
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark Tag SV/CNV tag was added to gene: PIGN.
Tag founder tag was added to gene: PIGN.
Genetic Epilepsy v0.966 PIGN Zornitza Stark Marked gene: PIGN as ready
Genetic Epilepsy v0.966 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Genetic Epilepsy v0.966 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563
Genetic Epilepsy v0.965 PIGN Zornitza Stark Publications for gene: PIGN were set to
Genetic Epilepsy v0.964 PIGN Zornitza Stark Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.963 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.279 PIGN Zornitza Stark Marked gene: PIGN as ready
Congenital Disorders of Glycosylation v0.279 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Mendeliome v0.5705 PIGN Zornitza Stark Marked gene: PIGN as ready
Mendeliome v0.5705 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Mendeliome v0.5705 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563
Mendeliome v0.5704 PIGN Zornitza Stark Publications for gene: PIGN were set to
Mendeliome v0.5703 PIGN Zornitza Stark Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.279 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563
Mendeliome v0.5702 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.278 PIGN Zornitza Stark Publications for gene: PIGN were set to
Congenital diaphragmatic hernia v0.32 PIGN Zornitza Stark changed review comment from: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia.; to: Three unrelated families reported with LOF variants and syndromic congenital diaphragmatic hernia, Fryns-like.
Congenital Disorders of Glycosylation v0.277 PIGN Zornitza Stark Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.276 PIGN Zornitza Stark Tag SV/CNV tag was added to gene: PIGN.
Tag founder tag was added to gene: PIGN.
Congenital Disorders of Glycosylation v0.276 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.276 PIGA Zornitza Stark Marked gene: PIGA as ready
Congenital Disorders of Glycosylation v0.276 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Callosome v0.231 PIGA Zornitza Stark Marked gene: PIGA as ready
Callosome v0.231 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Callosome v0.231 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Callosome v0.230 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.229 PIGA Zornitza Stark Classified gene: PIGA as Red List (low evidence)
Callosome v0.229 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Callosome v0.228 PIGA Zornitza Stark reviewed gene: PIGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.184 PIGA Zornitza Stark edited their review of gene: PIGA: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Additional findings_Paediatric v0.184 PIGA Zornitza Stark Marked gene: PIGA as ready
Additional findings_Paediatric v0.184 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.184 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from Epileptic encephalopathy, early-onset to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Additional findings_Paediatric v0.183 PIGA Zornitza Stark Publications for gene: PIGA were set to
Additional findings_Paediatric v0.182 PIGA Zornitza Stark Classified gene: PIGA as Green List (high evidence)
Additional findings_Paediatric v0.182 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.181 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5702 PIGA Zornitza Stark Marked gene: PIGA as ready
Mendeliome v0.5702 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Mendeliome v0.5702 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Mendeliome v0.5701 PIGA Zornitza Stark Publications for gene: PIGA were set to
Mendeliome v0.5700 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.276 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Mendeliome v0.5699 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.275 PIGA Zornitza Stark Publications for gene: PIGA were set to
Congenital Disorders of Glycosylation v0.274 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.273 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Marked gene: PIGL as ready
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Classified gene: PIGL as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.77 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.76 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review
SV/CNV, founder tags were added to gene: PIGL.
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 22444671; 31535386; 30023290; 29473937; 28371479; 25706356
Phenotypes for gene: PIGL were set to CHIME syndrome, MIM# 280000, MONDO:0010221
Review for gene: PIGL was set to GREEN
Added comment: Bi-allelic variants in PIGL have been associated with a multisystem disorder clinically characterised by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Some individuals have hyperphosphatasia. p.Leu167Pro is a common founder variant. Also note large deletion reported more than once. More than 10 unrelated families reported.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3296 PIGL Zornitza Stark Marked gene: PIGL as ready
Intellectual disability syndromic and non-syndromic v0.3296 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3296 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIM# 280000, MONDO:0010221
Intellectual disability syndromic and non-syndromic v0.3295 PIGL Zornitza Stark Publications for gene: PIGL were set to
Intellectual disability syndromic and non-syndromic v0.3294 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Intellectual disability syndromic and non-syndromic v0.3294 PIGL Zornitza Stark Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3293 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5699 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Mendeliome v0.5699 PIGL Zornitza Stark Marked gene: PIGL as ready
Mendeliome v0.5699 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Mendeliome v0.5699 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIM# 280000, MONDO:0010221
Mendeliome v0.5698 PIGL Zornitza Stark Publications for gene: PIGL were set to
Mendeliome v0.5697 PIGL Zornitza Stark Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5696 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.102 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from CHIME syndrome (MIM#280000) to CHIME syndrome, MIM# 280000, MONDO:0010221
Ichthyosis and Porokeratosis v0.101 PIGL Zornitza Stark Publications for gene: PIGL were set to 22444671; 31535386
Ichthyosis and Porokeratosis v0.100 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Ichthyosis and Porokeratosis v0.100 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark edited their review of gene: PIGL: Changed phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Marked gene: PIGL as ready
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIM# 280000, MONDO:0010221
Congenital Disorders of Glycosylation v0.272 PIGL Zornitza Stark Publications for gene: PIGL were set to
Congenital Disorders of Glycosylation v0.271 PIGL Zornitza Stark Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.270 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.54 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Osteogenesis Imperfecta and Osteoporosis v0.54 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.54 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Osteogenesis Imperfecta and Osteoporosis v0.53 B3GALT6 Zornitza Stark Publications for gene: B3GALT6 were set to
Osteogenesis Imperfecta and Osteoporosis v0.52 B3GALT6 Zornitza Stark edited their review of gene: B3GALT6: Changed phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Osteogenesis Imperfecta and Osteoporosis v0.52 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.51 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664117, 23664118; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5696 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Mendeliome v0.5696 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Mendeliome v0.5696 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Mendeliome v0.5695 B3GALT6 Zornitza Stark Publications for gene: B3GALT6 were set to
Mendeliome v0.5694 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5693 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25149931, 29443383, 23664117, 29931299, 23664117, 23664118, 31614862; Phenotypes: Al-Gazali syndrome, MIM# 609465, Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.270 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Congenital Disorders of Glycosylation v0.270 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.270 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Congenital Disorders of Glycosylation v0.269 B3GALT6 Zornitza Stark Publications for gene: B3GALT6 were set to
Congenital Disorders of Glycosylation v0.268 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.267 B3GALT6 Zornitza Stark changed review comment from: B3GALNT6 forms a galactose (Gal)-beta-1,3-Gal linkage via the transfer of Gal from UDP-Gal to a terminal beta-linked Gal residue and functions in the synthesis of heparan sulfate and chondroitin sulfate.

Variants in B3GALT6 have been associated with type 2 spondylodysplastic Ehlers-Danlos syndrome (EDSSPD2; MIM# 615349), type 1 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1; MIM#271640), and Al-Gazali syndrome MIM#609465, all of which have overlapping features.; to: B3GALNT6 forms a galactose (Gal)-beta-1,3-Gal linkage via the transfer of Gal from UDP-Gal to a terminal beta-linked Gal residue and functions in the synthesis of heparan sulfate and chondroitin sulfate.

Variants in B3GALT6 have been associated with type 2 spondylodysplastic Ehlers-Danlos syndrome (EDSSPD2; MIM# 615349), type 1 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1; MIM#271640), and Al-Gazali syndrome MIM#609465, all of which have overlapping features. Multiple families reported.
Congenital Disorders of Glycosylation v0.267 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25149931, 29443383, 23664117, 29931299, 23664117, 23664118, 31614862; Phenotypes: Al-Gazali syndrome, MIM# 609465, Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.87 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Muscular dystrophy and myopathy_Paediatric v0.87 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.87 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Muscular dystrophy and myopathy_Paediatric v0.86 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Muscular dystrophy and myopathy_Paediatric v0.85 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.84 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.74 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Hydrocephalus_Ventriculomegaly v0.74 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.74 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Hydrocephalus_Ventriculomegaly v0.73 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Hydrocephalus_Ventriculomegaly v0.72 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.71 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3293 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Intellectual disability syndromic and non-syndromic v0.3293 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3293 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Intellectual disability syndromic and non-syndromic v0.3292 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Intellectual disability syndromic and non-syndromic v0.3291 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3290 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5693 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Mendeliome v0.5693 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Mendeliome v0.5693 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Mendeliome v0.5692 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Mendeliome v0.5691 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5690 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark edited their review of gene: B3GALNT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Congenital Disorders of Glycosylation v0.266 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Congenital Disorders of Glycosylation v0.265 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.264 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Classified gene: MPDU1 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.84 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.83 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to Muscular dystrophy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919
Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Review for gene: MPDU1 was set to GREEN
Added comment: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK.
Sources: Expert Review
Additional findings_Paediatric v0.181 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Additional findings_Paediatric v0.181 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.181 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Additional findings_Paediatric v0.180 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Additional findings_Paediatric v0.179 MPDU1 Zornitza Stark Classified gene: MPDU1 as Green List (high evidence)
Additional findings_Paediatric v0.179 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.178 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.264 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Congenital Disorders of Glycosylation v0.264 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3290 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Intellectual disability syndromic and non-syndromic v0.3290 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3290 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Intellectual disability syndromic and non-syndromic v0.3289 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Intellectual disability syndromic and non-syndromic v0.3288 MPDU1 Zornitza Stark Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3287 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.963 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Genetic Epilepsy v0.963 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.963 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Genetic Epilepsy v0.962 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Genetic Epilepsy v0.961 MPDU1 Zornitza Stark Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.960 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5690 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Mendeliome v0.5690 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Mendeliome v0.5690 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Mendeliome v0.5689 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Mendeliome v0.5688 MPDU1 Zornitza Stark Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.264 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Mendeliome v0.5687 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.263 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Congenital Disorders of Glycosylation v0.262 MPDU1 Zornitza Stark Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.261 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.245 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Cataract v0.245 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Cataract v0.245 DPAGT1 Zornitza Stark Classified gene: DPAGT1 as Green List (high evidence)
Cataract v0.245 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Cataract v0.244 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Cataract. Sources: Expert Review
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111
Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Review for gene: DPAGT1 was set to GREEN
Added comment: Cataracts reported in more than 3 unrelated families with this Type I CDG. Other common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. Overall, more than 20 unrelated families reported.
Sources: Expert Review
Mackenzie's Mission_Reproductive Carrier Screening v0.50 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DP, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750AGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3287 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Intellectual disability syndromic and non-syndromic v0.3287 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3287 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Intellectual disability syndromic and non-syndromic v0.3286 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Intellectual disability syndromic and non-syndromic v0.3285 DPAGT1 Zornitza Stark Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3284 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.960 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Genetic Epilepsy v0.960 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.960 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Genetic Epilepsy v0.959 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Genetic Epilepsy v0.958 DPAGT1 Zornitza Stark Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.957 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5687 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Mendeliome v0.5687 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Mendeliome v0.5687 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Mendeliome v0.5686 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Mendeliome v0.5685 DPAGT1 Zornitza Stark Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5684 DPAGT1 Zornitza Stark changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder. More than 5 unrelated families reported with this presentation.
Mendeliome v0.5684 DPAGT1 Zornitza Stark edited their review of gene: DPAGT1: Changed publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111, 22742743, 29356258, 28712839, 28662078
Mendeliome v0.5684 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.261 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Congenital Disorders of Glycosylation v0.261 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.261 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Congenital Disorders of Glycosylation v0.260 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Congenital Disorders of Glycosylation v0.259 DPAGT1 Zornitza Stark changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder
Congenital Disorders of Glycosylation v0.259 DPAGT1 Zornitza Stark Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.258 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.44 DOLK Zornitza Stark Publications for gene: DOLK were set to 17273964; 22242004; 23890587
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark Marked gene: DOLK as ready
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.43 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im 610768; syndromic DCM; Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Muscular dystrophy and myopathy_Paediatric v0.82 DOLK Zornitza Stark Marked gene: DOLK as ready
Muscular dystrophy and myopathy_Paediatric v0.82 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.82 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Muscular dystrophy and myopathy_Paediatric v0.81 DOLK Zornitza Stark Publications for gene: DOLK were set to
Muscular dystrophy and myopathy_Paediatric v0.80 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.79 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.178 DOLK Zornitza Stark Marked gene: DOLK as ready
Additional findings_Paediatric v0.178 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.178 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Additional findings_Paediatric v0.177 DOLK Zornitza Stark Publications for gene: DOLK were set to
Additional findings_Paediatric v0.176 DOLK Zornitza Stark Classified gene: DOLK as Green List (high evidence)
Additional findings_Paediatric v0.176 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.175 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3284 DOLK Zornitza Stark Marked gene: DOLK as ready
Intellectual disability syndromic and non-syndromic v0.3284 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3284 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Intellectual disability syndromic and non-syndromic v0.3283 DOLK Zornitza Stark Publications for gene: DOLK were set to
Intellectual disability syndromic and non-syndromic v0.3282 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3281 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5684 DOLK Zornitza Stark Marked gene: DOLK as ready
Mendeliome v0.5684 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Mendeliome v0.5684 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Mendeliome v0.5683 DOLK Zornitza Stark Publications for gene: DOLK were set to
Congenital Disorders of Glycosylation v0.258 DOLK Zornitza Stark Marked gene: DOLK as ready
Congenital Disorders of Glycosylation v0.258 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.258 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Mendeliome v0.5682 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5681 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.257 DOLK Zornitza Stark Publications for gene: DOLK were set to
Congenital Disorders of Glycosylation v0.256 DOLK Zornitza Stark edited their review of gene: DOLK: Changed phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768
Congenital Disorders of Glycosylation v0.256 DOLK Zornitza Stark edited their review of gene: DOLK: Changed phenotypes: DK1-CDG, MONDO:0012556
Congenital Disorders of Glycosylation v0.256 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.255 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.255 COG7 Zornitza Stark Marked gene: COG7 as ready
Congenital Disorders of Glycosylation v0.255 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.255 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779
Congenital Disorders of Glycosylation v0.254 COG7 Zornitza Stark Publications for gene: COG7 were set to
Congenital Disorders of Glycosylation v0.253 COG7 Zornitza Stark Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.252 COG7 Zornitza Stark reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15107842, 17356545, 28883096; Phenotypes: Congenital disorder of glycosylation, type IIe , MIM#608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.252 COG1 Zornitza Stark Marked gene: COG1 as ready
Congenital Disorders of Glycosylation v0.252 COG1 Zornitza Stark Gene: cog1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.252 COG1 Zornitza Stark Phenotypes for gene: COG1 were changed from to Congenital disorder of glycosylation, type IIg, MIM# 611209
Congenital Disorders of Glycosylation v0.251 COG1 Zornitza Stark Publications for gene: COG1 were set to
Congenital Disorders of Glycosylation v0.250 COG1 Zornitza Stark Mode of inheritance for gene: COG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.249 COG1 Zornitza Stark reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16537452, 19008299, 17904886, 11980916; Phenotypes: Congenital disorder of glycosylation, type IIg, MIM# 611209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.249 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Congenital Disorders of Glycosylation v0.249 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.249 CHST3 Zornitza Stark Phenotypes for gene: CHST3 were changed from to Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095
Congenital Disorders of Glycosylation v0.248 CHST3 Zornitza Stark Publications for gene: CHST3 were set to
Congenital Disorders of Glycosylation v0.247 CHST3 Zornitza Stark Mode of inheritance for gene: CHST3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.246 CHST3 Zornitza Stark reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513679; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.246 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Congenital Disorders of Glycosylation v0.246 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.246 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Congenital Disorders of Glycosylation v0.245 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Congenital Disorders of Glycosylation v0.244 CHST14 Zornitza Stark Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.243 CHST14 Zornitza Stark reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5681 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Mendeliome v0.5681 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Mendeliome v0.5681 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777; Dystonia 9, MIM#601042; Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885; GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847
Mendeliome v0.5680 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Mendeliome v0.5679 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Craniosynostosis v1.13 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Craniosynostosis v1.13 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Craniosynostosis v1.13 TRAF7 Zornitza Stark Classified gene: TRAF7 as Green List (high evidence)
Craniosynostosis v1.13 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Craniosynostosis v1.12 TRAF7 Zornitza Stark gene: TRAF7 was added
gene: TRAF7 was added to Craniosynostosis. Sources: Expert Review
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRAF7 were set to 32459067; 32376980; 29961569
Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
Review for gene: TRAF7 was set to GREEN
Added comment: Over 50 affected individuals reported. Craniofacial abnormalities are common, including craniosynostosis in more than 3.
Sources: Expert Review
Skeletal dysplasia v0.69 MTX2 Zornitza Stark Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Skeletal dysplasia v0.68 MTX2 Zornitza Stark edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Mendeliome v0.5678 MTX2 Zornitza Stark Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Mendeliome v0.5677 MTX2 Zornitza Stark edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Lipodystrophy_Lipoatrophy v0.15 MTX2 Zornitza Stark Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Lipodystrophy_Lipoatrophy v0.14 MTX2 Zornitza Stark edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Mandibulofacial Acrofacial dysostosis v0.17 MTX2 Zornitza Stark Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Mandibulofacial Acrofacial dysostosis v0.16 MTX2 Zornitza Stark edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Mendeliome v0.5677 SLC2A1 Elena Savva reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18451999, 20129935, 10980529, 20221955, 31196579; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126, {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Congenital ophthalmoplegia v0.73 Zornitza Stark Panel types changed to Rare Disease
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Marked gene: CDON as ready
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Gene: cdon has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Classified gene: CDON as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v0.75 CDON Zornitza Stark Gene: cdon has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.8 CDON Zornitza Stark Marked gene: CDON as ready
Pituitary hormone deficiency v0.8 CDON Zornitza Stark Gene: cdon has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.8 CDON Zornitza Stark Publications for gene: CDON were set to 21802063; 26529631
Pituitary hormone deficiency v0.7 CDON Zornitza Stark reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.7 CDON Elena Savva changed review comment from: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients; to: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients
Pituitary hormone deficiency v0.7 CDON Elena Savva changed review comment from: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: has anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients; to: PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients
Pituitary hormone deficiency v0.7 CDON Elena Savva reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21802063, 29749693, 32729136, 33270637, 26529631, 27974186; Phenotypes: Holoprosencephaly 11 MIM#614226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Anophthalmia_Microphthalmia_Coloboma v0.74 CDON Elena Savva gene: CDON was added
gene: CDON was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: CDON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDON were set to PMID: 32729136
Phenotypes for gene: CDON were set to Holoprosencephaly 11 MIM#614226
Review for gene: CDON was set to AMBER
Added comment: Isolated example of chet (both splice) siblings with isolated coloboma. Parents were normal.
Supported by mouse model.
Reviews a hom patient (PTC) in another case also with retinal coloboma, dev delay, dysmorphic features and an additional hom MAPRE2 variant (gene has not be associated to coloboma)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3281 DPYD Elena Savva Deleted their review
Mendeliome v0.5677 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Mendeliome v0.5677 ERCC1 Zornitza Stark Gene: ercc1 has been classified as Green List (High Evidence).
Mendeliome v0.5677 ERCC1 Zornitza Stark Phenotypes for gene: ERCC1 were changed from to Cerebrooculofacioskeletal syndrome 4, MIM# 610758
Mendeliome v0.5676 ERCC1 Zornitza Stark Publications for gene: ERCC1 were set to
Mendeliome v0.5675 ERCC1 Zornitza Stark Mode of inheritance for gene: ERCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5674 ERCC1 Zornitza Stark reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273966, 23623389, 33315086; Phenotypes: Cerebrooculofacioskeletal syndrome 4, MIM# 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.248 POR Zornitza Stark Marked gene: POR as ready
Arthrogryposis v0.248 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Arthrogryposis v0.248 POR Zornitza Stark Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750
Arthrogryposis v0.247 POR Zornitza Stark Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.246 POR Zornitza Stark reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.183 POR Zornitza Stark Marked gene: POR as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.183 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.183 POR Zornitza Stark Phenotypes for gene: POR were changed from to Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.182 POR Zornitza Stark Publications for gene: POR were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.181 POR Zornitza Stark Mode of inheritance for gene: POR was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 POR Zornitza Stark reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 32242900; Phenotypes: Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.185 POR Zornitza Stark Marked gene: POR as ready
Differences of Sex Development v0.185 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Differences of Sex Development v0.185 POR Zornitza Stark Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Differences of Sex Development v0.184 POR Zornitza Stark Publications for gene: POR were set to
Differences of Sex Development v0.183 POR Zornitza Stark Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.182 POR Zornitza Stark reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27068427; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5674 POR Zornitza Stark Marked gene: POR as ready
Mendeliome v0.5674 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Mendeliome v0.5674 POR Zornitza Stark Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Mendeliome v0.5673 POR Zornitza Stark Publications for gene: POR were set to
Mendeliome v0.5672 POR Zornitza Stark Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5671 MYH6 Zornitza Stark Marked gene: MYH6 as ready
Mendeliome v0.5671 MYH6 Zornitza Stark Gene: myh6 has been classified as Green List (High Evidence).
Mendeliome v0.5671 MYH6 Zornitza Stark Phenotypes for gene: MYH6 were changed from to Atrial septal defect 3 MIM#614089; Congenital heart disease; Cardiomyopathy, dilated, 1EE MIM#613252; Cardiomyopathy, hypertrophic, 14 MIM#613251; {Sick sinus syndrome 3} MIM#614090
Mendeliome v0.5670 MYH6 Zornitza Stark Publications for gene: MYH6 were set to
Mendeliome v0.5669 MYH6 Zornitza Stark Mode of inheritance for gene: MYH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5668 MYH6 Zornitza Stark reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32656206, 31638415, 29969989, 29536580, 29332214, 30681346; Phenotypes: Atrial septal defect 3 MIM#614089, Congenital heart disease, Cardiomyopathy, dilated, 1EE MIM#613252, Cardiomyopathy, hypertrophic, 14 MIM#613251, {Sick sinus syndrome 3} MIM#614090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.57 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Macrocephaly_Megalencephaly v0.57 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.57 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590
Macrocephaly_Megalencephaly v0.56 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Macrocephaly_Megalencephaly v0.55 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.54 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29244146, 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.60 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Overgrowth v0.60 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Overgrowth v0.60 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590
Overgrowth v0.59 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Overgrowth v0.58 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Overgrowth v0.57 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29244146, 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3281 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Intellectual disability syndromic and non-syndromic v0.3281 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3281 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590
Intellectual disability syndromic and non-syndromic v0.3280 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Intellectual disability syndromic and non-syndromic v0.3279 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3278 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29244146, 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5668 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Mendeliome v0.5668 EZH2 Zornitza Stark Gene: ezh2 has been classified as Green List (High Evidence).
Mendeliome v0.5668 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590
Mendeliome v0.5667 EZH2 Zornitza Stark Publications for gene: EZH2 were set to
Mendeliome v0.5666 EZH2 Zornitza Stark Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5665 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23865096; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5665 POR Elena Savva reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27068427; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.5665 MYH6 Elena Savva reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 3 MIM#614089, Cardiomyopathy, dilated, 1EE MIM#613252, Cardiomyopathy, hypertrophic, 14 MIM#613251, {Sick sinus syndrome 3} MIM#614090; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5665 EZH2 Elena Savva reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29244146; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.3278 DPYD Elena Savva reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29152729; Phenotypes: 5-fluorouracil toxicity MIM#274270, Dihydropyrimidine dehydrogenase deficiency MIM#274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.50 COG5 Zornitza Stark gene: COG5 was added
gene: COG5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 23228021; 31572517; 32174980
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi, MIM# 613612
Review for gene: COG5 was set to GREEN
Added comment: More than 5 unrelated families reported. Intellectual disability is part of the phenotype.
Sources: Expert Review
Mendeliome v0.5665 COG6 Zornitza Stark Marked gene: COG6 as ready
Mendeliome v0.5665 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Mendeliome v0.5665 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type IIl, MIM# 614576
Mendeliome v0.5664 COG6 Zornitza Stark Publications for gene: COG6 were set to
Mendeliome v0.5663 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5662 COG6 Zornitza Stark reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20605848, 23430903, 26260076, 32905044, 32683677, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIl, MIM# 614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.243 COG6 Zornitza Stark Marked gene: COG6 as ready
Congenital Disorders of Glycosylation v0.243 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.243 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type IIl, MIM# 614576
Congenital Disorders of Glycosylation v0.242 COG6 Zornitza Stark Publications for gene: COG6 were set to
Congenital Disorders of Glycosylation v0.241 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.240 COG6 Zornitza Stark reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20605848, 23430903, 26260076, 32905044, 32683677, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIl, MIM# 614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.175 COG5 Zornitza Stark Marked gene: COG5 as ready
Additional findings_Paediatric v0.175 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.175 COG5 Zornitza Stark Publications for gene: COG5 were set to
Additional findings_Paediatric v0.174 COG5 Zornitza Stark Classified gene: COG5 as Green List (high evidence)
Additional findings_Paediatric v0.174 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.173 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3278 COG5 Zornitza Stark Marked gene: COG5 as ready
Intellectual disability syndromic and non-syndromic v0.3278 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3278 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612
Intellectual disability syndromic and non-syndromic v0.3277 COG5 Zornitza Stark Publications for gene: COG5 were set to
Intellectual disability syndromic and non-syndromic v0.3276 COG5 Zornitza Stark Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3275 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5662 COG5 Zornitza Stark Marked gene: COG5 as ready
Mendeliome v0.5662 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Mendeliome v0.5662 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612
Mendeliome v0.5661 COG5 Zornitza Stark Publications for gene: COG5 were set to
Mendeliome v0.5660 COG5 Zornitza Stark Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5659 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.240 COG5 Zornitza Stark Marked gene: COG5 as ready
Congenital Disorders of Glycosylation v0.240 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.240 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612
Congenital Disorders of Glycosylation v0.239 COG5 Zornitza Stark Publications for gene: COG5 were set to
Congenital Disorders of Glycosylation v0.238 COG5 Zornitza Stark Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.237 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5659 FIGLA Zornitza Stark Marked gene: FIGLA as ready
Mendeliome v0.5659 FIGLA Zornitza Stark Gene: figla has been classified as Green List (High Evidence).
Mendeliome v0.5659 FIGLA Zornitza Stark Phenotypes for gene: FIGLA were changed from to Premature ovarian failure 6, MIM# 612310
Mendeliome v0.5658 FIGLA Zornitza Stark Publications for gene: FIGLA were set to
Mendeliome v0.5657 FIGLA Zornitza Stark Mode of inheritance for gene: FIGLA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5656 FIGLA Zornitza Stark reviewed gene: FIGLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499083, 25314148, 29914564; Phenotypes: Premature ovarian failure 6, MIM# 612310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 FIGLA Zornitza Stark Marked gene: FIGLA as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 FIGLA Zornitza Stark Gene: figla has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.180 FIGLA Zornitza Stark Phenotypes for gene: FIGLA were changed from Premature ovarian failure,612310 to Premature ovarian failure, MIM#612310
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.179 FIGLA Zornitza Stark Publications for gene: FIGLA were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.178 FIGLA Zornitza Stark Mode of inheritance for gene: FIGLA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 FIGLA Zornitza Stark reviewed gene: FIGLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499083, 25314148, 29914564; Phenotypes: Premature ovarian failure 6, MIM# 612310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5656 ESR1 Zornitza Stark Marked gene: ESR1 as ready
Mendeliome v0.5656 ESR1 Zornitza Stark Gene: esr1 has been classified as Green List (High Evidence).
Mendeliome v0.5656 ESR1 Zornitza Stark Phenotypes for gene: ESR1 were changed from to Estrogen resistance, MIM# 615363
Mendeliome v0.5655 ESR1 Zornitza Stark Publications for gene: ESR1 were set to
Mendeliome v0.5654 ESR1 Zornitza Stark Mode of inheritance for gene: ESR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5653 ESR1 Zornitza Stark reviewed gene: ESR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27754803, 23841731, 24152274; Phenotypes: Estrogen resistance, MIM# 615363; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 ESR1 Zornitza Stark Marked gene: ESR1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 ESR1 Zornitza Stark Gene: esr1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.177 ESR1 Zornitza Stark Phenotypes for gene: ESR1 were changed from to Estrogen resistance, MIM# 615363
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.176 ESR1 Zornitza Stark Publications for gene: ESR1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.175 ESR1 Zornitza Stark Mode of inheritance for gene: ESR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 ESR1 Zornitza Stark reviewed gene: ESR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27754803, 23841731, 24152274; Phenotypes: Estrogen resistance, MIM# 615363; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B5 Zornitza Stark reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B4 Zornitza Stark Marked gene: EIF2B4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B4 Zornitza Stark Gene: eif2b4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B4 Zornitza Stark reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 EIF2B2 Zornitza Stark reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 CYP19A1 Zornitza Stark Marked gene: CYP19A1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 CYP19A1 Zornitza Stark Gene: cyp19a1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.174 CYP19A1 Zornitza Stark Publications for gene: CYP19A1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP19A1 Zornitza Stark reviewed gene: CYP19A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164303; Phenotypes: Aromatase deficiency, MIM# 613546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 BTG4 Zornitza Stark Classified gene: BTG4 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.173 BTG4 Zornitza Stark Gene: btg4 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 BTG4 Zornitza Stark edited their review of gene: BTG4: Added comment: Normal ovarian function, presents with infertility.; Changed rating: RED
Cardiomyopathy_Paediatric v0.42 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Cardiomyopathy_Paediatric v0.41 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Hereditary Spastic Paraplegia v0.157 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Hereditary Spastic Paraplegia v0.156 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Intellectual disability syndromic and non-syndromic v0.3275 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Intellectual disability syndromic and non-syndromic v0.3274 SHMT2 Zornitza Stark reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactylyCongenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.228 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Callosome v0.227 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Mitochondrial disease v0.560 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Mitochondrial disease v0.559 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Microcephaly v0.513 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Microcephaly v0.512 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Mendeliome v0.5653 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Mendeliome v0.5652 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Polymicrogyria and Schizencephaly v0.156 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Polymicrogyria and Schizencephaly v0.155 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.172 CHD7 Zornitza Stark Publications for gene: CHD7 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.171 CHD7 Zornitza Stark Classified gene: CHD7 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.171 CHD7 Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: None; Publications: 18834967; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 ANOS1 Zornitza Stark Marked gene: ANOS1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 ANOS1 Zornitza Stark Gene: anos1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 ANOS1 Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5652 BMP15 Zornitza Stark commented on gene: BMP15: Only affects females, variants inherited from asymptomatic fathers. Over 50 individuals reported.
Differences of Sex Development v0.182 BMP15 Zornitza Stark Marked gene: BMP15 as ready
Differences of Sex Development v0.182 BMP15 Zornitza Stark Gene: bmp15 has been classified as Green List (High Evidence).
Differences of Sex Development v0.182 BMP15 Zornitza Stark Phenotypes for gene: BMP15 were changed from to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510
Differences of Sex Development v0.181 BMP15 Zornitza Stark Publications for gene: BMP15 were set to
Differences of Sex Development v0.180 BMP15 Zornitza Stark Mode of inheritance for gene: BMP15 was changed from Unknown to Other
Differences of Sex Development v0.179 BMP15 Zornitza Stark reviewed gene: BMP15: Rating: GREEN; Mode of pathogenicity: None; Publications: 15136966, 16508750, 16464940; Phenotypes: Ovarian dysgenesis 2, MIM# 300510, Premature ovarian failure 4, MIM# 300510; Mode of inheritance: Other
Mendeliome v0.5652 BMP15 Zornitza Stark Marked gene: BMP15 as ready
Mendeliome v0.5652 BMP15 Zornitza Stark Gene: bmp15 has been classified as Green List (High Evidence).
Mendeliome v0.5652 BMP15 Zornitza Stark Phenotypes for gene: BMP15 were changed from to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510
Mendeliome v0.5651 BMP15 Zornitza Stark Publications for gene: BMP15 were set to
Mendeliome v0.5650 BMP15 Zornitza Stark Mode of inheritance for gene: BMP15 was changed from Unknown to Other
Mendeliome v0.5649 BMP15 Zornitza Stark reviewed gene: BMP15: Rating: GREEN; Mode of pathogenicity: None; Publications: 15136966, 16508750, 16464940; Phenotypes: Ovarian dysgenesis 2, MIM# 300510, Premature ovarian failure 4, MIM# 300510; Mode of inheritance: Other
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 BMP15 Zornitza Stark Marked gene: BMP15 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 BMP15 Zornitza Stark Gene: bmp15 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.170 BMP15 Zornitza Stark Phenotypes for gene: BMP15 were changed from Ovarian dysgenesis 2,300510; Premature ovarian failure 4300510 to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.169 BMP15 Zornitza Stark Publications for gene: BMP15 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.168 BMP15 Zornitza Stark Mode of inheritance for gene: BMP15 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.167 BMP15 Zornitza Stark reviewed gene: BMP15: Rating: GREEN; Mode of pathogenicity: None; Publications: 15136966, 16508750, 16464940; Phenotypes: Ovarian dysgenesis 2, MIM# 300510, Premature ovarian failure 4, MIM# 300510; Mode of inheritance: Other
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.167 AMHR2 Zornitza Stark Marked gene: AMHR2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.167 AMHR2 Zornitza Stark Gene: amhr2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.167 AMHR2 Zornitza Stark Phenotypes for gene: AMHR2 were changed from to Primary ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.166 AMHR2 Zornitza Stark Publications for gene: AMHR2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.165 AMHR2 Zornitza Stark Mode of inheritance for gene: AMHR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.164 AMHR2 Zornitza Stark Classified gene: AMHR2 as Red List (low evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.164 AMHR2 Zornitza Stark Gene: amhr2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMHR2 Zornitza Stark reviewed gene: AMHR2: Rating: RED; Mode of pathogenicity: None; Publications: 24912417, 24146295; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMH Zornitza Stark Marked gene: AMH as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMH Zornitza Stark Gene: amh has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.163 AMH Zornitza Stark Phenotypes for gene: AMH were changed from to Primary ovarian insuffiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.162 AMH Zornitza Stark Publications for gene: AMH were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.161 AMH Zornitza Stark Mode of inheritance for gene: AMH was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.160 AMH Zornitza Stark Classified gene: AMH as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.160 AMH Zornitza Stark Gene: amh has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AMH Zornitza Stark reviewed gene: AMH: Rating: AMBER; Mode of pathogenicity: None; Publications: 25750103; Phenotypes: Primary ovarian insuffiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AIRE Zornitza Stark Marked gene: AIRE as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.159 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.158 AIRE Zornitza Stark Mode of pathogenicity for gene: AIRE was changed from to Other
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.157 AIRE Zornitza Stark Mode of inheritance for gene: AIRE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 AIRE Zornitza Stark changed review comment from: Hypogonadism is a feature.; to: Hypogonadism is a feature. Multiple families with bi-allelic variants reported.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 AIRE Zornitza Stark edited their review of gene: AIRE: Changed publications: 16965330, 19758376, 19807739
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 AIRE Zornitza Stark reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 NOG Bryony Thompson Marked gene: NOG as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 NOG Bryony Thompson Gene: nog has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.156 NOG Bryony Thompson Phenotypes for gene: NOG were changed from to Symphalangism, proximal, 1A MIM#185800
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.155 NOG Bryony Thompson Publications for gene: NOG were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.154 NOG Bryony Thompson Mode of inheritance for gene: NOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 NOG Bryony Thompson reviewed gene: NOG: Rating: RED; Mode of pathogenicity: None; Publications: 15066478, 22088931, 17381491; Phenotypes: Symphalangism, proximal, 1A MIM#185800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5649 PANX1 Zornitza Stark Marked gene: PANX1 as ready
Mendeliome v0.5649 PANX1 Zornitza Stark Gene: panx1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5649 PANX1 Zornitza Stark Classified gene: PANX1 as Amber List (moderate evidence)
Mendeliome v0.5649 PANX1 Zornitza Stark Gene: panx1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5648 PANX1 Zornitza Stark gene: PANX1 was added
gene: PANX1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PANX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PANX1 were set to 30918116; 32838805
Phenotypes for gene: PANX1 were set to Oocyte maturation defect 7, MIM# 618550
Review for gene: PANX1 was set to AMBER
Added comment: Two unrelated families, some functional data. Clinical presentation is with infertility.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 PANX1 Zornitza Stark Marked gene: PANX1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 PANX1 Zornitza Stark Gene: panx1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.153 PANX1 Zornitza Stark Phenotypes for gene: PANX1 were changed from to Oocyte maturation defect 7, MIM# 618550
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.152 PANX1 Zornitza Stark Publications for gene: PANX1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.151 PANX1 Zornitza Stark Mode of inheritance for gene: PANX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.150 PANX1 Zornitza Stark reviewed gene: PANX1: Rating: RED; Mode of pathogenicity: None; Publications: 30918116, 32838805; Phenotypes: Oocyte maturation defect 7, MIM# 618550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.150 FXPOI Bryony Thompson Classified STR: FXPOI as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.150 FXPOI Bryony Thompson Str: fxpoi has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.149 FXPOI Bryony Thompson STR: FXPOI was added
STR: FXPOI was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list
5'UTR tags were added to STR: FXPOI.
Mode of inheritance for STR: FXPOI 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 STR: FXPOI were set to 20301558
Phenotypes for STR: FXPOI were set to Premature ovarian failure 1 MIM#311360
Review for STR: FXPOI was set to GREEN
STR: FXPOI was marked as clinically relevant
STR: FXPOI was marked as current diagnostic
Added comment: HGVS nomenclature - NM_002024.5:c.-129_-127CGG[X]
RNA-mediated toxicity may result in the POI phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype.
Intermediate (gray zone, inconclusive, borderline): ~45 to ~54 repeats
Premutation - risk of FXPOI: ~55 to ~200 repeats
Full mutation - fragile X syndrome (FXS): >200 repeats
It is estimated that 21% of women who carry a premutation develop FXPOI. The association between repeat size of the premutation allele and FXPOI is nonlinear; women with 80-99 repeats are at greatest risk for FXPOI.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Marked gene: FMR1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Gene: fmr1 has been removed from the panel.
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Classified gene: FMR1 as No list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Added comment: Comment on list classification: Premature ovarian failure caused by an STR in this gene, which has been added under STRs
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.148 FMR1 Bryony Thompson Gene: fmr1 has been removed from the panel.
Mendeliome v0.5647 NANOS3 Bryony Thompson Marked gene: NANOS3 as ready
Mendeliome v0.5647 NANOS3 Bryony Thompson Gene: nanos3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5647 NANOS3 Bryony Thompson Classified gene: NANOS3 as Amber List (moderate evidence)
Mendeliome v0.5647 NANOS3 Bryony Thompson Gene: nanos3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.147 NANOS3 Bryony Thompson Mode of inheritance for gene: NANOS3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.146 NANOS3 Bryony Thompson Publications for gene: NANOS3 were set to
Mendeliome v0.5646 NANOS3 Bryony Thompson gene: NANOS3 was added
gene: NANOS3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NANOS3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NANOS3 were set to 25054146; 24091668
Phenotypes for gene: NANOS3 were set to Primary ovarian insufficiency
Review for gene: NANOS3 was set to AMBER
Added comment: A homozygous missense (p.Glu120Lys) was identified in two Brazillian sisters with primary amenorrhea, and supporting in vitro functional assays. A heterozygous missense (p.Arg153Trp) was identified in a Chinese woman with POI, with supporting in vitro functional assays. Also, supporting null mouse model.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.145 NANOS3 Bryony Thompson Phenotypes for gene: NANOS3 were changed from to Primary ovarian insufficiency
Mendeliome v0.5645 MSH5 Bryony Thompson Marked gene: MSH5 as ready
Mendeliome v0.5645 MSH5 Bryony Thompson Gene: msh5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5645 MSH5 Bryony Thompson Classified gene: MSH5 as Amber List (moderate evidence)
Mendeliome v0.5645 MSH5 Bryony Thompson Gene: msh5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5644 MSH5 Bryony Thompson gene: MSH5 was added
gene: MSH5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MSH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSH5 were set to 28175301; 9916805; 24970489
Phenotypes for gene: MSH5 were set to Premature ovarian failure 13 MIM#617442
Review for gene: MSH5 was set to AMBER
Added comment: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature
Mendeliome v0.5643 PATL2 Zornitza Stark Marked gene: PATL2 as ready
Mendeliome v0.5643 PATL2 Zornitza Stark Gene: patl2 has been classified as Green List (High Evidence).
Mendeliome v0.5643 PATL2 Zornitza Stark Classified gene: PATL2 as Green List (high evidence)
Mendeliome v0.5643 PATL2 Zornitza Stark Gene: patl2 has been classified as Green List (High Evidence).
Mendeliome v0.5642 PATL2 Zornitza Stark gene: PATL2 was added
gene: PATL2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PATL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PATL2 were set to 28965844; 28965849; 32048119; 30765866
Phenotypes for gene: PATL2 were set to Oocyte maturation defect 4, MIM# 617743
Review for gene: PATL2 was set to GREEN
Added comment: More than 5 unrelated families reported, presentation is with infertility.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.144 PATL2 Zornitza Stark Marked gene: PATL2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.144 PATL2 Zornitza Stark Gene: patl2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.144 PATL2 Zornitza Stark Phenotypes for gene: PATL2 were changed from to Oocyte maturation defect 4, MIM# 617743
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.143 PATL2 Zornitza Stark Publications for gene: PATL2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.142 PATL2 Zornitza Stark Mode of inheritance for gene: PATL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.141 PATL2 Zornitza Stark edited their review of gene: PATL2: Changed rating: RED
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.141 PATL2 Zornitza Stark reviewed gene: PATL2: Rating: ; Mode of pathogenicity: None; Publications: 28965844, 28965849, 32048119, 30765866; Phenotypes: Oocyte maturation defect 4, MIM# 617743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5641 FANCM Bryony Thompson Phenotypes for gene: FANCM were changed from Spermatogenic failure 28, MIM# 618086 to Spermatogenic failure 28, MIM# 618086; Premature ovarian failure 15 MIM#618096
Mendeliome v0.5640 FANCM Bryony Thompson Publications for gene: FANCM were set to 30075111; 29895858; 28837162
Mendeliome v0.5639 FANCM Bryony Thompson Classified gene: FANCM as Green List (high evidence)
Mendeliome v0.5639 FANCM Bryony Thompson Added comment: Comment on list classification: Green for POI
Mendeliome v0.5639 FANCM Bryony Thompson Gene: fancm has been classified as Green List (High Evidence).
Mendeliome v0.5638 FANCM Bryony Thompson reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29231814, 28837162, 33036707, 25010009; Phenotypes: Premature ovarian failure 15 MIM#618096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.141 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.5638 EIF4ENIF1 Bryony Thompson Marked gene: EIF4ENIF1 as ready
Mendeliome v0.5638 EIF4ENIF1 Bryony Thompson Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5638 PGRMC1 Zornitza Stark Marked gene: PGRMC1 as ready
Mendeliome v0.5638 PGRMC1 Zornitza Stark Gene: pgrmc1 has been classified as Red List (Low Evidence).
Mendeliome v0.5638 PGRMC1 Zornitza Stark gene: PGRMC1 was added
gene: PGRMC1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PGRMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PGRMC1 were set to 25246111; 18782852
Phenotypes for gene: PGRMC1 were set to Premature ovarian failure
Review for gene: PGRMC1 was set to RED
Added comment: One family with translocation reported and two affected individuals. Another individual identified as part of a cohort with a missense variant (H165R), but the variant is present in >200 hets in gnomad. Subsequent cohort study did not find an association.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.140 PGRMC1 Zornitza Stark Marked gene: PGRMC1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.140 PGRMC1 Zornitza Stark Gene: pgrmc1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.140 PGRMC1 Zornitza Stark Phenotypes for gene: PGRMC1 were changed from to Premature ovarian failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.139 PGRMC1 Zornitza Stark Publications for gene: PGRMC1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.138 PGRMC1 Zornitza Stark Mode of inheritance for gene: PGRMC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 PGRMC1 Zornitza Stark edited their review of gene: PGRMC1: Changed rating: RED
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 PGRMC1 Zornitza Stark reviewed gene: PGRMC1: Rating: ; Mode of pathogenicity: None; Publications: 25246111, 18782852; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5637 EIF4ENIF1 Bryony Thompson Classified gene: EIF4ENIF1 as Amber List (moderate evidence)
Mendeliome v0.5637 EIF4ENIF1 Bryony Thompson Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5636 EIF4ENIF1 Bryony Thompson gene: EIF4ENIF1 was added
gene: EIF4ENIF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF4ENIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF4ENIF1 were set to 31810472; 23902945; 33095795
Phenotypes for gene: EIF4ENIF1 were set to Primary ovarian insufficiency
Review for gene: EIF4ENIF1 was set to AMBER
Added comment: 3 families: A missense (p.Q842P) segregated between a mother and daughter with diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI). A nonsense variant (p.Ser429Ter) segregated in 7 affected women over 3 consecutive generations with early menopause at approximately age 30 years. A missense (p.Lys669Arg) was identified in a Brazilian case with POI.
Sources: Literature
Mendeliome v0.5635 POF1B Zornitza Stark Marked gene: POF1B as ready
Mendeliome v0.5635 POF1B Zornitza Stark Gene: pof1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5635 POF1B Zornitza Stark Phenotypes for gene: POF1B were changed from to Premature ovarian failure 2B, MIM# 300604
Mendeliome v0.5634 POF1B Zornitza Stark Publications for gene: POF1B were set to
Mendeliome v0.5633 POF1B Zornitza Stark Mode of inheritance for gene: POF1B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5632 POF1B Zornitza Stark Classified gene: POF1B as Amber List (moderate evidence)
Mendeliome v0.5632 POF1B Zornitza Stark Gene: pof1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5631 DIAPH2 Bryony Thompson Marked gene: DIAPH2 as ready
Mendeliome v0.5631 DIAPH2 Bryony Thompson Gene: diaph2 has been classified as Red List (Low Evidence).
Mendeliome v0.5631 POF1B Zornitza Stark reviewed gene: POF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 16773570, 25676666; Phenotypes: Premature ovarian failure 2B, MIM# 300604; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 POF1B Zornitza Stark Marked gene: POF1B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 POF1B Zornitza Stark Gene: pof1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.137 POF1B Zornitza Stark Phenotypes for gene: POF1B were changed from to Premature ovarian failure 2B, MIM# 300604
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.136 POF1B Zornitza Stark Publications for gene: POF1B were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.135 POF1B Zornitza Stark Mode of inheritance for gene: POF1B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5631 DIAPH2 Bryony Thompson Classified gene: DIAPH2 as Red List (low evidence)
Mendeliome v0.5631 DIAPH2 Bryony Thompson Gene: diaph2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.134 POF1B Zornitza Stark Classified gene: POF1B as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.134 POF1B Zornitza Stark Gene: pof1b has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POF1B Zornitza Stark reviewed gene: POF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 16773570, 25676666; Phenotypes: Premature ovarian failure 2B, MIM# 300604; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5630 DIAPH2 Bryony Thompson reviewed gene: DIAPH2: Rating: RED; Mode of pathogenicity: None; Publications: 9497258, 30689869, 26175800, 11129329; Phenotypes: ?Premature ovarian failure 2A MIM#300511; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5630 CCDC141 Bryony Thompson Marked gene: CCDC141 as ready
Mendeliome v0.5630 CCDC141 Bryony Thompson Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5630 POU5F1 Zornitza Stark gene: POU5F1 was added
gene: POU5F1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: POU5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU5F1 were set to 21273125
Phenotypes for gene: POU5F1 were set to Premature ovarian failure
Review for gene: POU5F1 was set to RED
Added comment: Single individual reported in 2011 and a missense variant.
Sources: Expert list
Mendeliome v0.5629 CCDC141 Bryony Thompson Classified gene: CCDC141 as Amber List (moderate evidence)
Mendeliome v0.5629 CCDC141 Bryony Thompson Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5628 CCDC141 Bryony Thompson gene: CCDC141 was added
gene: CCDC141 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC141 was set to Unknown
Publications for gene: CCDC141 were set to 27014940; 28324054; 25192046
Phenotypes for gene: CCDC141 were set to Anosmic hypogonadotropic hypogonadism
Review for gene: CCDC141 was set to AMBER
Added comment: A consanguineous family had a homozygous nonsense variant, but also had a homozygous missense in FEZF1. 3 other families reported with heterozygous variants, but other variants in other genes present. In an olfactory mouse model, Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POU5F1 Zornitza Stark Marked gene: POU5F1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POU5F1 Zornitza Stark Gene: pou5f1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.133 POU5F1 Zornitza Stark Phenotypes for gene: POU5F1 were changed from to Premature ovarian failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.132 POU5F1 Zornitza Stark Publications for gene: POU5F1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.131 POU5F1 Zornitza Stark Mode of inheritance for gene: POU5F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 POU5F1 Zornitza Stark reviewed gene: POU5F1: Rating: RED; Mode of pathogenicity: None; Publications: 21273125; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5627 SGO2 Zornitza Stark Marked gene: SGO2 as ready
Mendeliome v0.5627 SGO2 Zornitza Stark Gene: sgo2 has been classified as Red List (Low Evidence).
Mendeliome v0.5627 SGO2 Zornitza Stark gene: SGO2 was added
gene: SGO2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGO2 were set to 27629923
Phenotypes for gene: SGO2 were set to Perrault syndrome
Review for gene: SGO2 was set to RED
Added comment: Single affected individual reported, though deafness was thought to be explained by a CLDN14 variant. Protein is known to be involved in meiosis.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 SGO2 Zornitza Stark Marked gene: SGO2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 SGO2 Zornitza Stark Gene: sgo2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.130 SGO2 Zornitza Stark Phenotypes for gene: SGO2 were changed from to Perrault syndrome
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.129 SGO2 Zornitza Stark Publications for gene: SGO2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.128 SGO2 Zornitza Stark Mode of inheritance for gene: SGO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 SGO2 Zornitza Stark reviewed gene: SGO2: Rating: RED; Mode of pathogenicity: None; Publications: 27629923; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5626 SOHLH2 Zornitza Stark Marked gene: SOHLH2 as ready
Mendeliome v0.5626 SOHLH2 Zornitza Stark Gene: sohlh2 has been classified as Red List (Low Evidence).
Mendeliome v0.5626 SOHLH2 Zornitza Stark gene: SOHLH2 was added
gene: SOHLH2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SOHLH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOHLH2 were set to 24524832; 19014927
Phenotypes for gene: SOHLH2 were set to Premature ovarian failure
Review for gene: SOHLH2 was set to RED
Added comment: Heterozygous variants in this gene found to be enriched in a cohort of women with POF, substantial data including mouse models implicating this gene in infertility but paucity of well characterised cases.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Marked gene: NANOS3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Gene: nanos3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Classified gene: NANOS3 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.127 NANOS3 Bryony Thompson Gene: nanos3 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.126 NANOS3 Bryony Thompson reviewed gene: NANOS3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25054146, 24091668; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.126 SOHLH2 Zornitza Stark Marked gene: SOHLH2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.126 SOHLH2 Zornitza Stark Gene: sohlh2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.126 SOHLH2 Zornitza Stark Phenotypes for gene: SOHLH2 were changed from to Premature ovarian failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.125 SOHLH2 Zornitza Stark Publications for gene: SOHLH2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.124 SOHLH2 Zornitza Stark Mode of inheritance for gene: SOHLH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SOHLH2 Zornitza Stark reviewed gene: SOHLH2: Rating: RED; Mode of pathogenicity: None; Publications: 24524832, 19014927; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5625 SYCE1 Zornitza Stark Marked gene: SYCE1 as ready
Mendeliome v0.5625 SYCE1 Zornitza Stark Gene: syce1 has been classified as Green List (High Evidence).
Mendeliome v0.5625 SYCE1 Zornitza Stark Classified gene: SYCE1 as Green List (high evidence)
Mendeliome v0.5625 SYCE1 Zornitza Stark Gene: syce1 has been classified as Green List (High Evidence).
Mendeliome v0.5624 SYCE1 Zornitza Stark gene: SYCE1 was added
gene: SYCE1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SYCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYCE1 were set to 25062452; 32917591; 32741963; 32402064; 31925770; 31916078
Phenotypes for gene: SYCE1 were set to Premature ovarian failure 12, MIM# 616947; Spermatogenic failure 15 ,MIM#616950
Review for gene: SYCE1 was set to GREEN
Added comment: More than 5 families reported with POF/SF and bi-allelic variants in this gene. Mechanism is thought to be disruption of meiosis, mouse model data also supports gene-disease association.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SYCE1 Zornitza Stark Marked gene: SYCE1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SYCE1 Zornitza Stark Gene: syce1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.123 SYCE1 Zornitza Stark Phenotypes for gene: SYCE1 were changed from to Premature ovarian failure 12, MIM# 616947
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.122 SYCE1 Zornitza Stark Publications for gene: SYCE1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.121 SYCE1 Zornitza Stark Mode of inheritance for gene: SYCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.120 SYCE1 Zornitza Stark Classified gene: SYCE1 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.120 SYCE1 Zornitza Stark Gene: syce1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 SYCE1 Zornitza Stark reviewed gene: SYCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25062452, 32917591, 32741963, 32402064, 31925770, 31916078; Phenotypes: Premature ovarian failure 12, MIM# 616947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 MSH5 Bryony Thompson Marked gene: MSH5 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 MSH5 Bryony Thompson Gene: msh5 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.119 MSH5 Bryony Thompson Phenotypes for gene: MSH5 were changed from to Premature ovarian failure 13 MIM#617442
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.118 MSH5 Bryony Thompson Publications for gene: MSH5 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.117 MSH5 Bryony Thompson Classified gene: MSH5 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.117 MSH5 Bryony Thompson Gene: msh5 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 MSH5 Bryony Thompson reviewed gene: MSH5: Rating: AMBER; Mode of pathogenicity: None; Publications: 28175301, 9916805, 24970489; Phenotypes: Premature ovarian failure 13 MIM#617442; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5623 DACH2 Zornitza Stark Marked gene: DACH2 as ready
Mendeliome v0.5623 DACH2 Zornitza Stark Gene: dach2 has been classified as Red List (Low Evidence).
Mendeliome v0.5623 DACH2 Zornitza Stark gene: DACH2 was added
gene: DACH2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DACH2 were set to 15459172
Phenotypes for gene: DACH2 were set to Primary ovarian insufficiency
Review for gene: DACH2 was set to RED
Added comment: In a small candidate gene study, missense were more common in POI cases than controls (p= 0.0125). 5 missense reported in 7 POI cases, although 2 of the missense are too common in gnomAD for a dominant disorder. No other reports with evidence for an association with POI.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 DACH2 Zornitza Stark Marked gene: DACH2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 DACH2 Zornitza Stark Gene: dach2 has been classified as Red List (Low Evidence).
Mendeliome v0.5622 TUBB8 Zornitza Stark Marked gene: TUBB8 as ready
Mendeliome v0.5622 TUBB8 Zornitza Stark Gene: tubb8 has been classified as Green List (High Evidence).
Mendeliome v0.5622 TUBB8 Zornitza Stark Phenotypes for gene: TUBB8 were changed from to Oocyte maturation defect 2, MIM# 616780
Mendeliome v0.5621 TUBB8 Zornitza Stark Publications for gene: TUBB8 were set to
Mendeliome v0.5620 TUBB8 Zornitza Stark Mode of inheritance for gene: TUBB8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5619 TUBB8 Zornitza Stark reviewed gene: TUBB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789871, 27273344; Phenotypes: Oocyte maturation defect 2, MIM# 616780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5619 WEE2 Zornitza Stark Marked gene: WEE2 as ready
Mendeliome v0.5619 WEE2 Zornitza Stark Gene: wee2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 TUBB8 Zornitza Stark Marked gene: TUBB8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 TUBB8 Zornitza Stark Gene: tubb8 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.116 TUBB8 Zornitza Stark Phenotypes for gene: TUBB8 were changed from to Oocyte maturation defect 2, MIM# 616780
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.115 TUBB8 Zornitza Stark Publications for gene: TUBB8 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.114 TUBB8 Zornitza Stark Mode of inheritance for gene: TUBB8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 TUBB8 Zornitza Stark reviewed gene: TUBB8: Rating: RED; Mode of pathogenicity: None; Publications: 26789871, 27273344; Phenotypes: Oocyte maturation defect 2, MIM# 616780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5619 WEE2 Zornitza Stark Phenotypes for gene: WEE2 were changed from to Oocyte maturation defect 5, MIM# 617996
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Marked gene: MRPS22 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Gene: mrps22 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Classified gene: MRPS22 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.113 MRPS22 Bryony Thompson Gene: mrps22 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 MRPS22 Bryony Thompson reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 29566152, 31042289; Phenotypes: Ovarian dysgenesis 7 MIM#618117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5618 WEE2 Zornitza Stark Publications for gene: WEE2 were set to
Mendeliome v0.5617 WEE2 Zornitza Stark Mode of inheritance for gene: WEE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5616 WEE2 Zornitza Stark reviewed gene: WEE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29606300, 30628060; Phenotypes: Oocyte maturation defect 5, MIM# 617996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 MRPS22 Bryony Thompson Deleted their review
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 WEE2 Zornitza Stark Marked gene: WEE2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 WEE2 Zornitza Stark Gene: wee2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.112 WEE2 Zornitza Stark Phenotypes for gene: WEE2 were changed from to Oocyte maturation defect 5, MIM# 617996
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.111 WEE2 Zornitza Stark Publications for gene: WEE2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.110 WEE2 Zornitza Stark Mode of inheritance for gene: WEE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.109 WEE2 Zornitza Stark reviewed gene: WEE2: Rating: RED; Mode of pathogenicity: None; Publications: 29606300, 30628060; Phenotypes: Oocyte maturation defect 5, MIM# 617996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.109 MRPS22 Bryony Thompson reviewed gene: MRPS22: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 7 618117; Mode of inheritance: None
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.109 EIF4ENIF1 Bryony Thompson Phenotypes for gene: EIF4ENIF1 were changed from to Primary ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.108 EIF4ENIF1 Bryony Thompson Publications for gene: EIF4ENIF1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.107 EIF4ENIF1 Bryony Thompson Mode of inheritance for gene: EIF4ENIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.106 EIF4ENIF1 Bryony Thompson Classified gene: EIF4ENIF1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.106 EIF4ENIF1 Bryony Thompson Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.105 EIF4ENIF1 Bryony Thompson reviewed gene: EIF4ENIF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31810472, 23902945, 33095795; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.105 DACH2 Bryony Thompson Phenotypes for gene: DACH2 were changed from to Primary ovarian insufficiency
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.104 DACH2 Bryony Thompson Publications for gene: DACH2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.103 DACH2 Bryony Thompson Mode of inheritance for gene: DACH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 DACH2 Bryony Thompson reviewed gene: DACH2: Rating: RED; Mode of pathogenicity: None; Publications: 15459172; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 HNF1B Bryony Thompson Marked gene: HNF1B as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 HNF1B Bryony Thompson Gene: hnf1b has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 GDF9 Bryony Thompson Marked gene: GDF9 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 GDF9 Bryony Thompson Gene: gdf9 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.102 GDF9 Bryony Thompson Publications for gene: GDF9 were set to 29044499; 8849725
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.101 GDF9 Bryony Thompson Classified gene: GDF9 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.101 GDF9 Bryony Thompson Gene: gdf9 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 GDF9 Bryony Thompson edited their review of gene: GDF9: Added comment: PMID: 33036707 - Additional compound het case with primary amenorrhea and was diagnosed with non-syndromic POI and supporting functional assays.; Changed rating: GREEN; Changed publications: 29044499, 8849725, 33036707
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 FANCM Bryony Thompson Marked gene: FANCM as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 FANCM Bryony Thompson Gene: fancm has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.100 FANCM Bryony Thompson Phenotypes for gene: FANCM were changed from to Premature ovarian failure 15 MIM#618096
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.99 FANCM Bryony Thompson Publications for gene: FANCM were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.98 FANCM Bryony Thompson Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.97 FANCM Bryony Thompson Classified gene: FANCM as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.97 FANCM Bryony Thompson Gene: fancm has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 FANCM Bryony Thompson reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29231814, 28837162, 33036707, 25010009; Phenotypes: Premature ovarian failure 15 MIM#618096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5616 ZP1 Zornitza Stark Marked gene: ZP1 as ready
Mendeliome v0.5616 ZP1 Zornitza Stark Gene: zp1 has been classified as Green List (High Evidence).
Mendeliome v0.5616 ZP1 Zornitza Stark Classified gene: ZP1 as Green List (high evidence)
Mendeliome v0.5616 ZP1 Zornitza Stark Gene: zp1 has been classified as Green List (High Evidence).
Mendeliome v0.5615 ZP1 Zornitza Stark gene: ZP1 was added
gene: ZP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ZP1 were set to 24670168; 30810869; 32573113; 33272616
Phenotypes for gene: ZP1 were set to Oocyte maturation defect 1, MIM# 615774
Review for gene: ZP1 was set to GREEN
Added comment: Multiple unrelated individuals reported, presents as primary infertility.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 ZP1 Zornitza Stark Marked gene: ZP1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 ZP1 Zornitza Stark Gene: zp1 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.96 ZP1 Zornitza Stark Phenotypes for gene: ZP1 were changed from to Oocyte maturation defect 1, MIM# 615774
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.95 ZP1 Zornitza Stark Publications for gene: ZP1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.94 ZP1 Zornitza Stark Mode of inheritance for gene: ZP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP1 Zornitza Stark reviewed gene: ZP1: Rating: RED; Mode of pathogenicity: None; Publications: 24670168, 30810869, 32573113, 33272616; Phenotypes: Oocyte maturation defect 1, MIM# 615774; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5614 ZP2 Zornitza Stark Phenotypes for gene: ZP2 were changed from Female infertility to Oocyte maturation defect 6, MIM# 618353; Female infertility
Mendeliome v0.5613 ZP2 Zornitza Stark edited their review of gene: ZP2: Changed phenotypes: Oocyte maturation defect 6, MIM# 618353, Female infertility
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP2 Zornitza Stark Marked gene: ZP2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP2 Zornitza Stark Gene: zp2 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.93 ZP2 Zornitza Stark Phenotypes for gene: ZP2 were changed from to Oocyte maturation defect 6, MIM# 618353; Female infertility
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.92 ZP2 Zornitza Stark Publications for gene: ZP2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.91 ZP2 Zornitza Stark Mode of inheritance for gene: ZP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP2 Zornitza Stark changed review comment from: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida.
Sources: Literature; to: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida. Presents with primary infertility rather than POI/POF.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP2 Zornitza Stark edited their review of gene: ZP2: Changed rating: RED
Mendeliome v0.5613 ZP3 Zornitza Stark Marked gene: ZP3 as ready
Mendeliome v0.5613 ZP3 Zornitza Stark Gene: zp3 has been classified as Green List (High Evidence).
Mendeliome v0.5613 ZP3 Zornitza Stark Classified gene: ZP3 as Green List (high evidence)
Mendeliome v0.5613 ZP3 Zornitza Stark Gene: zp3 has been classified as Green List (High Evidence).
Mendeliome v0.5612 ZP3 Zornitza Stark gene: ZP3 was added
gene: ZP3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZP3 were set to 28886344; 30810869; 33272616; 32573113
Phenotypes for gene: ZP3 were set to Oocyte maturation defect 3, MIM# 617712
Review for gene: ZP3 was set to GREEN
Added comment: Oocyte maturation defect with normal ovarian reserves and menstrual cycles, presents as infertility.
Sources: Expert list
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP3 Zornitza Stark Marked gene: ZP3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP3 Zornitza Stark Gene: zp3 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.90 ZP3 Zornitza Stark Phenotypes for gene: ZP3 were changed from to Oocyte maturation defect 3, MIM# 617712
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.89 ZP3 Zornitza Stark Publications for gene: ZP3 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.88 ZP3 Zornitza Stark Mode of inheritance for gene: ZP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ZP3 Zornitza Stark reviewed gene: ZP3: Rating: RED; Mode of pathogenicity: None; Publications: 28886344, 30810869; Phenotypes: Oocyte maturation defect 3, MIM# 617712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ERAL1 Bryony Thompson Marked gene: ERAL1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ERAL1 Bryony Thompson Gene: eral1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.87 ERAL1 Bryony Thompson Phenotypes for gene: ERAL1 were changed from to Perrault syndrome 6, MIM# 617565
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.86 ERAL1 Bryony Thompson Publications for gene: ERAL1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.85 ERAL1 Bryony Thompson Mode of inheritance for gene: ERAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.84 ERAL1 Bryony Thompson Classified gene: ERAL1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.84 ERAL1 Bryony Thompson Gene: eral1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.83 BTG4 Bryony Thompson Marked gene: BTG4 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.83 BTG4 Bryony Thompson Gene: btg4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.83 BTG4 Bryony Thompson Publications for gene: BTG4 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.82 BTG4 Bryony Thompson Phenotypes for gene: BTG4 were changed from to Oocyte maturation defect, MIM#619009
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.81 BTG4 Bryony Thompson Mode of inheritance for gene: BTG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.80 BTG4 Bryony Thompson Classified gene: BTG4 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.80 BTG4 Bryony Thompson Gene: btg4 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.79 GDF9 Bryony Thompson Phenotypes for gene: GDF9 were changed from to Premature ovarian failure 14 MIM#618014
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.78 GDF9 Bryony Thompson Publications for gene: GDF9 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.77 GDF9 Bryony Thompson Mode of inheritance for gene: GDF9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 FEZF1 Bryony Thompson Marked gene: FEZF1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 FEZF1 Bryony Thompson Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 PROKR2 Bryony Thompson Marked gene: PROKR2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 PROKR2 Bryony Thompson Gene: prokr2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.76 PROKR2 Bryony Thompson Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.75 PROKR2 Bryony Thompson Mode of inheritance for gene: PROKR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 NUP107 Bryony Thompson Marked gene: NUP107 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 NUP107 Bryony Thompson Gene: nup107 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.74 NUP107 Bryony Thompson Phenotypes for gene: NUP107 were changed from to Ovarian dysgenesis 6 MIM#618078; primary amenorrhea; hypogonadotrophic hypogonadism
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.73 NUP107 Bryony Thompson Publications for gene: NUP107 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.72 NUP107 Bryony Thompson Mode of inheritance for gene: NUP107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NUP107 Bryony Thompson reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: None; Publications: 32684853, 26485283, 29363275; Phenotypes: Ovarian dysgenesis 6 MIM#618078, primary amenorrhea, hypogonadotrophic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NR5A1 Bryony Thompson Marked gene: NR5A1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NR5A1 Bryony Thompson Gene: nr5a1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.71 NR5A1 Bryony Thompson Mode of inheritance for gene: NR5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.70 NR5A1 Bryony Thompson Publications for gene: NR5A1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.69 NOBOX Bryony Thompson Mode of inheritance for gene: NOBOX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.68 LARS2 Bryony Thompson Marked gene: LARS2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.68 LARS2 Bryony Thompson Gene: lars2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.68 LARS2 Bryony Thompson Publications for gene: LARS2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.67 KISS1 Bryony Thompson Marked gene: KISS1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.67 KISS1 Bryony Thompson Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.67 KISS1 Bryony Thompson Phenotypes for gene: KISS1 were changed from to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.66 KISS1 Bryony Thompson Publications for gene: KISS1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.65 KISS1 Bryony Thompson Mode of inheritance for gene: KISS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.64 KISS1 Bryony Thompson Classified gene: KISS1 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.64 KISS1 Bryony Thompson Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.63 HFM1 Bryony Thompson Marked gene: HFM1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.63 HFM1 Bryony Thompson Gene: hfm1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.63 HFM1 Bryony Thompson Publications for gene: HFM1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.62 FOXL2 Bryony Thompson Marked gene: FOXL2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.62 FOXL2 Bryony Thompson Gene: foxl2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.62 FOXL2 Bryony Thompson Publications for gene: FOXL2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.61 FGFR1 Bryony Thompson Marked gene: FGFR1 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.61 FGFR1 Bryony Thompson Gene: fgfr1 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.61 FGFR1 Bryony Thompson Phenotypes for gene: FGFR1 were changed from to Hypogonadotropic hypogonadism 2 with or without anosmia 147950
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.60 FGFR1 Bryony Thompson Publications for gene: FGFR1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.59 FGFR1 Bryony Thompson Mode of inheritance for gene: FGFR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 FGF8 Bryony Thompson Marked gene: FGF8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 FGF8 Bryony Thompson Gene: fgf8 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 CLPP Bryony Thompson Marked gene: CLPP as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 CLPP Bryony Thompson Gene: clpp has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.58 CLPP Bryony Thompson Publications for gene: CLPP were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.57 AARS2 Bryony Thompson Marked gene: AARS2 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.57 AARS2 Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.57 AARS2 Bryony Thompson Publications for gene: AARS2 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.56 AIRE Bryony Thompson Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.55 AIRE Bryony Thompson Mode of inheritance for gene: AIRE was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ZP3 Bryony Thompson gene: ZP3 was added
gene: ZP3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ZP3 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ZP2 Bryony Thompson gene: ZP2 was added
gene: ZP2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ZP2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ZP1 Bryony Thompson gene: ZP1 was added
gene: ZP1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ZP1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 WEE2 Bryony Thompson gene: WEE2 was added
gene: WEE2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: WEE2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 TUBB8 Bryony Thompson gene: TUBB8 was added
gene: TUBB8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: TUBB8 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SYCE1 Bryony Thompson gene: SYCE1 was added
gene: SYCE1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: SYCE1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 STAG3 Bryony Thompson Source Genetic Health QLD was added to STAG3.
Mode of inheritance for gene STAG3 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SOHLH2 Bryony Thompson gene: SOHLH2 was added
gene: SOHLH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: SOHLH2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SOHLH1 Bryony Thompson Source Genetic Health QLD was added to SOHLH1.
Mode of inheritance for gene SOHLH1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 SGO2 Bryony Thompson gene: SGO2 was added
gene: SGO2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: SGO2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 POU5F1 Bryony Thompson gene: POU5F1 was added
gene: POU5F1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: POU5F1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 POF1B Bryony Thompson gene: POF1B was added
gene: POF1B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: POF1B was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 PGRMC1 Bryony Thompson gene: PGRMC1 was added
gene: PGRMC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: PGRMC1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 PATL2 Bryony Thompson gene: PATL2 was added
gene: PATL2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: PATL2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 PANX1 Bryony Thompson gene: PANX1 was added
gene: PANX1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: PANX1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NUP107 Bryony Thompson Source Genetic Health QLD was added to NUP107.
Mode of inheritance for gene NUP107 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NR5A1 Bryony Thompson Source Genetic Health QLD was added to NR5A1.
Mode of inheritance for gene NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NOG Bryony Thompson gene: NOG was added
gene: NOG was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: NOG was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NOBOX Bryony Thompson Source Genetic Health QLD was added to NOBOX.
Mode of inheritance for gene NOBOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 NANOS3 Bryony Thompson gene: NANOS3 was added
gene: NANOS3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: NANOS3 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 MSH5 Bryony Thompson gene: MSH5 was added
gene: MSH5 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: MSH5 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 MRPS22 Bryony Thompson gene: MRPS22 was added
gene: MRPS22 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: MRPS22 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 FANCM Bryony Thompson gene: FANCM was added
gene: FANCM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: FANCM was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 ERAL1 Bryony Thompson gene: ERAL1 was added
gene: ERAL1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: ERAL1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 EIF4ENIF1 Bryony Thompson gene: EIF4ENIF1 was added
gene: EIF4ENIF1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: EIF4ENIF1 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 DACH2 Bryony Thompson gene: DACH2 was added
gene: DACH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: DACH2 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.53 BTG4 Bryony Thompson gene: BTG4 was added
gene: BTG4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD
Mode of inheritance for gene: BTG4 was set to Unknown
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.51 Bryony Thompson Panel name changed from Amenorrhoea_Premature Ovarian Failure to Primary Ovarian Insufficiency_Premature Ovarian Failure
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.50 Bryony Thompson Panel name changed from Amenorrhoea to Amenorrhoea_Premature Ovarian Failure
Panel types changed to Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Mendeliome v0.5611 ECEL1P2 Zornitza Stark Marked gene: ECEL1P2 as ready
Mendeliome v0.5611 ECEL1P2 Zornitza Stark Gene: ecel1p2 has been classified as Red List (Low Evidence).
Mendeliome v0.5611 ECEL1P2 Zornitza Stark Classified gene: ECEL1P2 as Red List (low evidence)
Mendeliome v0.5611 ECEL1P2 Zornitza Stark Gene: ecel1p2 has been classified as Red List (Low Evidence).
Mendeliome v0.5610 ECEL1P2 Zornitza Stark reviewed gene: ECEL1P2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.5610 CCDC32 Zornitza Stark Phenotypes for gene: CCDC32 were changed from craniofacial, cardiac and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Mendeliome v0.5609 CCDC32 Zornitza Stark edited their review of gene: CCDC32: Changed rating: GREEN; Changed phenotypes: Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123, Craniofacial, cardiac, laterality and neurodevelopmental anomalies; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.219 CCDC32 Zornitza Stark Phenotypes for gene: CCDC32 were changed from Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Ciliopathies v0.219 CCDC32 Zornitza Stark Phenotypes for gene: CCDC32 were changed from Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Ciliopathies v0.218 CCDC32 Zornitza Stark edited their review of gene: CCDC32: Changed phenotypes: Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123, Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Mendeliome v0.5609 CDC40 Zornitza Stark Marked gene: CDC40 as ready
Mendeliome v0.5609 CDC40 Zornitza Stark Gene: cdc40 has been classified as Red List (Low Evidence).
Mendeliome v0.5609 CDC40 Zornitza Stark gene: CDC40 was added
gene: CDC40 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC40 were set to 33220177
Phenotypes for gene: CDC40 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: CDC40 was set to RED
Added comment: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association. Gene referred to as PRP17 in paper.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark Marked gene: CDC40 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark Gene: cdc40 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark changed review comment from: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association.
Sources: Literature; to: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association.

Gene referred to as PRP17 in paper.

Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Interaction with PPIL1 and mouse model supports gene-disease association.
Sources: Literature; to: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark changed review comment from: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature; to: Single family reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Interaction with PPIL1 and mouse model supports gene-disease association.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark edited their review of gene: CDC40: Changed rating: RED
Cerebellar and Pontocerebellar Hypoplasia v0.161 CDC40 Zornitza Stark gene: CDC40 was added
gene: CDC40 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC40 were set to 33220177
Phenotypes for gene: CDC40 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: CDC40 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Genetic Epilepsy v0.957 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Genetic Epilepsy v0.957 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.957 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Genetic Epilepsy v0.957 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.956 PPIL1 Zornitza Stark gene: PPIL1 was added
gene: PPIL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3274 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Intellectual disability syndromic and non-syndromic v0.3274 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3274 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3274 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3273 PPIL1 Zornitza Stark gene: PPIL1 was added
gene: PPIL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Microcephaly v0.512 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Microcephaly v0.512 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Microcephaly v0.512 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Microcephaly v0.512 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Microcephaly v0.511 PPIL1 Zornitza Stark gene: PPIL1 was added
gene: PPIL1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Mendeliome v0.5608 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Mendeliome v0.5608 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Mendeliome v0.5608 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Mendeliome v0.5608 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Mendeliome v0.5607 PPIL1 Zornitza Stark gene: PPIL1 was added
gene: PPIL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Marked gene: PPIL1 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Classified gene: PPIL1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.160 PPIL1 Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.159 PPIL1 Zornitza Stark gene: PPIL1 was added
gene: PPIL1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia; microcephaly; seizures
Review for gene: PPIL1 was set to GREEN
Added comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association.
Sources: Literature
Mendeliome v0.5606 FRA12A Bryony Thompson Classified STR: FRA12A as Amber List (moderate evidence)
Mendeliome v0.5606 FRA12A Bryony Thompson Str: fra12a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5605 FRA12A Bryony Thompson STR: FRA12A was added
STR: FRA12A was added to Mendeliome. Sources: Other
5'UTR tags were added to STR: FRA12A.
Mode of inheritance for STR: FRA12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FRA12A were set to 17236128
Phenotypes for STR: FRA12A were set to Mental retardation, FRA12A type MIM#136630
Review for STR: FRA12A was set to AMBER
Added comment: NM_173602.2:c.-137CGG[X]
All individuals expressing FRA12A had CGG-repeat expansion. The length of the expanded allele in 3 unaffected FRA12A carriers was 650–850 bp. In the two affected patients from 2 families with FRA12A, the length of the expanded allele was ∼1,050-1,150 bp.
70 controls used to determine the "normal" repeat range.
Sources: Other
Mendeliome v0.5604 DIP2B Bryony Thompson Classified gene: DIP2B as No list
Mendeliome v0.5604 DIP2B Bryony Thompson Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR
Mendeliome v0.5604 DIP2B Bryony Thompson Gene: dip2b has been removed from the panel.
Mendeliome v0.5603 DIP2B Bryony Thompson Classified gene: DIP2B as No list
Mendeliome v0.5603 DIP2B Bryony Thompson Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR
Mendeliome v0.5603 DIP2B Bryony Thompson Gene: dip2b has been removed from the panel.
Intellectual disability syndromic and non-syndromic v0.3272 DIP2B Bryony Thompson Classified gene: DIP2B as No list
Intellectual disability syndromic and non-syndromic v0.3272 DIP2B Bryony Thompson Added comment: Comment on list classification: Only repeat expansion reported. Added as an STR
Intellectual disability syndromic and non-syndromic v0.3272 DIP2B Bryony Thompson Gene: dip2b has been removed from the panel.
Intellectual disability syndromic and non-syndromic v0.3271 FRA12A Bryony Thompson Marked STR: FRA12A as ready
Intellectual disability syndromic and non-syndromic v0.3271 FRA12A Bryony Thompson Str: fra12a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3271 FRA12A Bryony Thompson Classified STR: FRA12A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3271 FRA12A Bryony Thompson Str: fra12a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3270 FRA12A Bryony Thompson STR: FRA12A was added
STR: FRA12A was added to Intellectual disability syndromic and non-syndromic. Sources: Other
5'UTR tags were added to STR: FRA12A.
Mode of inheritance for STR: FRA12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FRA12A were set to 17236128
Phenotypes for STR: FRA12A were set to Mental retardation, FRA12A type MIM#136630
Review for STR: FRA12A was set to AMBER
Added comment: NM_173602.2:c.-137CGG[X]
All individuals expressing FRA12A had CGG-repeat expansion. The length of the expanded allele in 3 unaffected FRA12A carriers was 650–850 bp. In the two affected patients from 2 families with FRA12A, the length of the expanded allele was ∼1,050-1,150 bp.
70 controls used to determine the "normal" repeat range.
Sources: Other
Deafness_IsolatedAndComplex v1.34 PTPRQ Zornitza Stark Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630
Deafness_IsolatedAndComplex v1.33 PTPRQ Zornitza Stark commented on gene: PTPRQ: Further heterozygous variants reported in PMID 33229591.
Deafness_IsolatedAndComplex v1.33 PTPRQ Zornitza Stark edited their review of gene: PTPRQ: Changed publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630, 33229591
Mendeliome v0.5602 PTPRQ Zornitza Stark Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630
Mendeliome v0.5601 PTPRQ Zornitza Stark changed review comment from: Additional heterozygous variants reported in PMID: 33229591; to: Additional heterozygous variants reported in PMID: 33229591, Green for both MOIs.
Mendeliome v0.5601 PTPRQ Zornitza Stark edited their review of gene: PTPRQ: Added comment: Additional heterozygous variants reported in PMID: 33229591; Changed publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630, 33229591
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Marked STR: CANVAS_ACAGG as ready
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Classified STR: CANVAS_ACAGG as Amber List (moderate evidence)
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Added comment: Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat
Hereditary Neuropathy v0.94 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.93 CANVAS_ACAGG Bryony Thompson STR: CANVAS_ACAGG was added
STR: CANVAS_ACAGG was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS_ACAGG were set to 33103729
Phenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation
Review for STR: CANVAS_ACAGG was set to AMBER
Added comment: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified homozygous in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson changed review comment from: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature; to: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified homozygous in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson Marked STR: CANVAS_ACAGG as ready
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson Classified STR: CANVAS_ACAGG as Amber List (moderate evidence)
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson Added comment: Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat
Mendeliome v0.5601 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5600 CANVAS_ACAGG Bryony Thompson STR: CANVAS_ACAGG was added
STR: CANVAS_ACAGG was added to Mendeliome. Sources: Literature
Mode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS_ACAGG were set to 33103729
Phenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation
Review for STR: CANVAS_ACAGG was set to AMBER
Added comment: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature
Mendeliome v0.5599 CANVAS Bryony Thompson Marked STR: CANVAS as ready
Mendeliome v0.5599 CANVAS Bryony Thompson Str: canvas has been classified as Green List (High Evidence).
Mendeliome v0.5599 CANVAS Bryony Thompson Classified STR: CANVAS as Green List (high evidence)
Mendeliome v0.5599 CANVAS Bryony Thompson Str: canvas has been classified as Green List (High Evidence).
Mendeliome v0.5598 CANVAS Bryony Thompson STR: CANVAS was added
STR: CANVAS was added to Mendeliome. Sources: Expert list
Mode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS were set to 30926972; 32851396
Phenotypes for STR: CANVAS were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Review for STR: CANVAS was set to GREEN
STR: CANVAS was marked as clinically relevant
Added comment: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease. Maori population-specific CANVAS configuration (AAAGG)10-25(AAGGG)exp. (AAAGG)n repeat alone is not pathogenic.
Sources: Expert list
Mendeliome v0.5597 RFC1 Bryony Thompson Classified gene: RFC1 as No list
Mendeliome v0.5597 RFC1 Bryony Thompson Gene: rfc1 has been removed from the panel.
Intellectual disability syndromic and non-syndromic v0.3269 FRAXE Bryony Thompson Classified STR: FRAXE as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3269 FRAXE Bryony Thompson Str: fraxe has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3268 FRAXE Bryony Thompson STR: FRAXE was added
STR: FRAXE was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for STR: FRAXE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: FRAXE were set to 8334699; 8673085; 11388762
Phenotypes for STR: FRAXE were set to Fragile X syndrome, FRAXE type (OMIM 309548)
Review for STR: FRAXE was set to GREEN
STR: FRAXE was marked as clinically relevant
STR: FRAXE was marked as current diagnostic
Added comment: NM_001169122.1(AFF2):c.-460_-458GCC(6_25)
Loss of function through methylation silencing is the mechanism of disease
Normal - 5-44 repeats
Inconclusive - 45-54 repeats
Premutation - 55-200 repeats
Abnormal - >200 or >230 repeats
Sources: Expert list
Mendeliome v0.5596 GDF11 Zornitza Stark Phenotypes for gene: GDF11 were changed from Cleft lip and palate to Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122
Mendeliome v0.5595 GDF11 Zornitza Stark edited their review of gene: GDF11: Changed phenotypes: Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122
Mendeliome v0.5595 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Mendeliome v0.5595 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Mendeliome v0.5595 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3 (MIM# 610329), AR
Mendeliome v0.5594 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Mendeliome v0.5593 RNASEH2C Zornitza Stark Mode of inheritance for gene: RNASEH2C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5592 CFAP52 Zornitza Stark Marked gene: CFAP52 as ready
Mendeliome v0.5592 CFAP52 Zornitza Stark Gene: cfap52 has been classified as Green List (High Evidence).
Mendeliome v0.5592 CFAP52 Zornitza Stark Classified gene: CFAP52 as Green List (high evidence)
Mendeliome v0.5592 CFAP52 Zornitza Stark Gene: cfap52 has been classified as Green List (High Evidence).
Mendeliome v0.5591 CFAP45 Zornitza Stark Marked gene: CFAP45 as ready
Mendeliome v0.5591 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Mendeliome v0.5591 CFAP45 Zornitza Stark Classified gene: CFAP45 as Green List (high evidence)
Mendeliome v0.5591 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Mendeliome v0.5590 RNASEH2C Chern Lim reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183309, 23322642; Phenotypes: Aicardi-Goutieres syndrome 3 (MIM# 610329), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.955 CEP85L Zornitza Stark Marked gene: CEP85L as ready
Genetic Epilepsy v0.955 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.955 CEP85L Zornitza Stark Classified gene: CEP85L as Green List (high evidence)
Genetic Epilepsy v0.955 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.954 CEP85L Zornitza Stark Classified gene: CEP85L as Green List (high evidence)
Genetic Epilepsy v0.954 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.953 CEP85L Zornitza Stark gene: CEP85L was added
gene: CEP85L was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant
Review for gene: CEP85L was set to GREEN
Added comment: PMID: 32097630 (2020) - 13 individuals from 9 unrelated families with lissencephaly and heterozygous variants in the CEP85L gene. Seizures are part of the phenotype, present in all cases (except 1 unknown) which were intractable in most. Age of seizure onset was variable, ranging from 5 months to 14 years. Mouse model supports a role of CEP85L in neuronal migration.
Sources: Expert Review
Microcephaly v0.510 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Microcephaly v0.510 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Microcephaly v0.510 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Microcephaly v0.510 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Microcephaly v0.509 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025
Phenotypes for gene: MORC2 were set to Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Review for gene: MORC2 was set to GREEN
Added comment: MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL.
Sources: Expert list
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.33 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.32 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025
Phenotypes for gene: MORC2 were set to Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Review for gene: MORC2 was set to GREEN
Added comment: MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL.
Sources: Expert list
Mendeliome v0.5590 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Mendeliome v0.5589 LMX1B Zornitza Stark edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy, Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Proteinuria v0.150 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Proteinuria v0.149 LMX1B Zornitza Stark edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy, Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Mendeliome v0.5589 RAP1A Zornitza Stark Marked gene: RAP1A as ready
Mendeliome v0.5589 RAP1A Zornitza Stark Gene: rap1a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5589 RAP1A Zornitza Stark Phenotypes for gene: RAP1A were changed from to Kabuki syndrome
Mendeliome v0.5588 RAP1A Zornitza Stark Publications for gene: RAP1A were set to
Mendeliome v0.5587 RAP1A Zornitza Stark Mode of inheritance for gene: RAP1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5586 RAP1A Zornitza Stark Classified gene: RAP1A as Amber List (moderate evidence)
Mendeliome v0.5586 RAP1A Zornitza Stark Gene: rap1a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5585 RAP1A Zornitza Stark reviewed gene: RAP1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26280580; Phenotypes: Kabuki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Kabuki syndrome v0.10 RAP1B Zornitza Stark Classified gene: RAP1B as Amber List (moderate evidence)
Kabuki syndrome v0.10 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Kabuki syndrome v0.9 RAP1B Zornitza Stark changed review comment from: Single individual reported with de novo variant, but facial gestalt described as not typical, and note more recent publication of de novo missense in association with syndromic ID but not Kabuki-like.; to: Single individual reported with de novo variant, but facial gestalt described as not typical, and note more recent publication of de novo missense in association with syndromic ID but not Kabuki-like. Functional data supports gene-disease association but degree of overlap with KS questionable.
Kabuki syndrome v0.9 RAP1B Zornitza Stark edited their review of gene: RAP1B: Changed rating: AMBER
Kabuki syndrome v0.9 RAP1A Zornitza Stark Marked gene: RAP1A as ready
Kabuki syndrome v0.9 RAP1A Zornitza Stark Gene: rap1a has been classified as Amber List (Moderate Evidence).
Kabuki syndrome v0.9 RAP1A Zornitza Stark Phenotypes for gene: RAP1A were changed from to Kabuki syndrome
Kabuki syndrome v0.8 RAP1A Zornitza Stark Publications for gene: RAP1A were set to
Kabuki syndrome v0.7 RAP1A Zornitza Stark Mode of inheritance for gene: RAP1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Kabuki syndrome v0.6 RAP1A Zornitza Stark Classified gene: RAP1A as Amber List (moderate evidence)
Kabuki syndrome v0.6 RAP1A Zornitza Stark Gene: rap1a has been classified as Amber List (Moderate Evidence).
Kabuki syndrome v0.5 RAP1A Zornitza Stark reviewed gene: RAP1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 26280580; Phenotypes: Kabuki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3267 RAP1B Zornitza Stark Publications for gene: RAP1B were set to PMID: 32627184
Intellectual disability syndromic and non-syndromic v0.3266 RAP1B Zornitza Stark Classified gene: RAP1B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3266 RAP1B Zornitza Stark Gene: rap1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark edited their review of gene: RAP1B: Added comment: Another individual with de novo missense variant from a Kabuki-like cohort but note facial gestalt was not typical, had DD.; Changed rating: GREEN; Changed publications: 32627184, 26280580
Mendeliome v0.5585 RAP1B Zornitza Stark Publications for gene: RAP1B were set to 32627184
Mendeliome v0.5584 RAP1B Zornitza Stark Classified gene: RAP1B as Green List (high evidence)
Mendeliome v0.5584 RAP1B Zornitza Stark Gene: rap1b has been classified as Green List (High Evidence).
Mendeliome v0.5583 RAP1B Zornitza Stark edited their review of gene: RAP1B: Added comment: Another individual with de novo missense reported from a cohort of Kabuki-like patients but note facial gestalt was not typical.; Changed rating: GREEN; Changed publications: 32627184, 26280580
Kabuki syndrome v0.5 RAP1B Zornitza Stark Marked gene: RAP1B as ready
Kabuki syndrome v0.5 RAP1B Zornitza Stark Gene: rap1b has been classified as Red List (Low Evidence).
Kabuki syndrome v0.5 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from to Kabuki syndrome
Kabuki syndrome v0.4 RAP1B Zornitza Stark Publications for gene: RAP1B were set to
Kabuki syndrome v0.3 RAP1B Zornitza Stark Mode of inheritance for gene: RAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Kabuki syndrome v0.2 RAP1B Zornitza Stark Classified gene: RAP1B as Red List (low evidence)
Kabuki syndrome v0.2 RAP1B Zornitza Stark Gene: rap1b has been classified as Red List (Low Evidence).
Kabuki syndrome v0.1 RAP1B Zornitza Stark reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: None; Publications: 26280580; Phenotypes: Kabuki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5583 RAP1B Zornitza Stark Marked gene: RAP1B as ready
Mendeliome v0.5583 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5583 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from to RAP1B‐associated syndrome; intellectual disability; microcephaly; thrombocytopaenia
Mendeliome v0.5582 RAP1B Zornitza Stark Publications for gene: RAP1B were set to
Mendeliome v0.5581 RAP1B Zornitza Stark Mode of inheritance for gene: RAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5580 RAP1B Zornitza Stark Classified gene: RAP1B as Amber List (moderate evidence)
Mendeliome v0.5580 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5579 RAP1B Zornitza Stark reviewed gene: RAP1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32627184; Phenotypes: RAP1B‐associated syndrome, intellectual disability, microcephaly, thrombocytopaenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark reviewed gene: RAP1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32627184; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark Marked gene: RAP1B as ready
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark Classified gene: RAP1B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3265 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5579 EMC10 Zornitza Stark Marked gene: EMC10 as ready
Mendeliome v0.5579 EMC10 Zornitza Stark Gene: emc10 has been classified as Red List (Low Evidence).
Mendeliome v0.5579 EMC10 Zornitza Stark gene: EMC10 was added
gene: EMC10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC10 were set to 32869858
Phenotypes for gene: EMC10 were set to Intellectual disability
Review for gene: EMC10 was set to RED
Added comment: Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders.

One Saudi family with 2 affected individuals with mild ID, speech delay, and GDD.
WES and Sanger sequencing revealed a homozygous splice acceptor site variant (c.679‐1G>A) in EMC10 . Variant segregated within the family. RT‐qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3264 RAP1B Chirag Patel gene: RAP1B was added
gene: RAP1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAP1B were set to PMID: 32627184
Phenotypes for gene: RAP1B were set to RAP1B‐associated phenotype, no OMIM #
Review for gene: RAP1B was set to RED
Added comment: De novo variants in the RAP1B gene (c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg)) in two unrelated patients with thrombocytopenia, microcephaly, learning difficulties, renal malformations, structural anomalies of the brain and other features (not Kabuki like).

RAP1B is a member of the RAS superfamily of small GTPases. There is strong evidence that the p.Gly12Val and p.Gly60Arg variants in the RAP1B gene lead into a dysregulation of the downstream pathway. Both substitutions have been described previously as dominant constitutively active in RAS‐related proteins (gain of function variants).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3263 EMC10 Chirag Patel gene: EMC10 was added
gene: EMC10 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC10 were set to PMID: 32869858
Phenotypes for gene: EMC10 were set to Developmental delay and intellectual disability, no OMIM#
Review for gene: EMC10 was set to RED
Added comment: Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders.

One Saudi family with 2 affected individuals with mild ID, speech delay, and GDD.
WES and Sanger sequencing revealed a homozygous splice acceptor site variant (c.679‐1G>A) in EMC10 . Variant segregated within the family. RT‐qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients.
Sources: Literature
Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Marked Region: ISCA-37467-Gain as ready
Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Region: isca-37467-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Classified Region: ISCA-37467-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.137 ISCA-37467-Gain Zornitza Stark Region: isca-37467-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.136 ISCA-37467-Gain Zornitza Stark Region: ISCA-37467-Gain was added
Region: ISCA-37467-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37467-Gain were set to 19847792; 33218365; 32184803; 28035386; 25944787
Phenotypes for Region: ISCA-37467-Gain were set to Syndactyly, type IV, MIM# 186200; limb anomalies; congenital heart disease; congenital anomalies
Review for Region: ISCA-37467-Gain was set to GREEN
Added comment: The ZPA regulatory sequence (ZRS) of SHH is located within intron 5 of LMBR1.

Multiple reports of isolated and syndromic limb anomalies in association with duplications of this region.
Sources: Expert list
Mendeliome v0.5578 FBXO28 Zornitza Stark Marked gene: FBXO28 as ready
Mendeliome v0.5578 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Mendeliome v0.5578 FBXO28 Zornitza Stark Classified gene: FBXO28 as Green List (high evidence)
Mendeliome v0.5578 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Mendeliome v0.5577 FBXO28 Zornitza Stark gene: FBXO28 was added
gene: FBXO28 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO28 were set to 33280099
Phenotypes for gene: FBXO28 were set to Developmental and epileptic encephalopathy
Review for gene: FBXO28 was set to GREEN
Added comment: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features.
Sources: Literature
Genetic Epilepsy v0.952 FBXO28 Zornitza Stark Marked gene: FBXO28 as ready
Genetic Epilepsy v0.952 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.952 FBXO28 Zornitza Stark Classified gene: FBXO28 as Green List (high evidence)
Genetic Epilepsy v0.952 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.951 FBXO28 Zornitza Stark gene: FBXO28 was added
gene: FBXO28 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO28 were set to 33280099
Phenotypes for gene: FBXO28 were set to Developmental and epileptic encephalopathy
Review for gene: FBXO28 was set to GREEN
Added comment: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3262 FBXO28 Zornitza Stark changed review comment from: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features.
Sources: Literature; to: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3262 FBXO28 Zornitza Stark Marked gene: FBXO28 as ready
Intellectual disability syndromic and non-syndromic v0.3262 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3262 FBXO28 Zornitza Stark Classified gene: FBXO28 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3262 FBXO28 Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3261 FBXO28 Zornitza Stark gene: FBXO28 was added
gene: FBXO28 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO28 were set to 33280099
Phenotypes for gene: FBXO28 were set to Developmental and epileptic encephalopathy
Review for gene: FBXO28 was set to GREEN
Added comment: Nine new individuals with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and all 10 known cases reviewed to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.49 TNFRSF13B Sarah Righetti reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: 29114388, 22983507, 22697072, 19779048, 31681265; Phenotypes: Immunodeficiency, common variable, 2, MIM#240500; Mode of inheritance: Other
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Marked Region: ISCA-37442-Gain as ready
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Region: isca-37442-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Classified Region: ISCA-37442-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.135 ISCA-37442-Gain Zornitza Stark Region: isca-37442-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.134 ISCA-37442-Gain Zornitza Stark Region: ISCA-37442-Gain was added
Region: ISCA-37442-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37442-Gain.
Mode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37442-Gain were set to 8842729
Phenotypes for Region: ISCA-37442-Gain were set to Diabetes mellitus, transient neonatal 1, MIM# 601410
Review for Region: ISCA-37442-Gain was set to GREEN
Added comment: Transient neonatal diabetes mellitus-1 (TNDM1; '6q diabetes') is caused by overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains PLAGL1.

Three genetic mechanisms had been shown to result in TNDM: paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, and a methylation defect at a CpG island overlapping exon 1 of ZAC/HYMAI (promoter of PLAGL1). Note that over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features.
Sources: Expert list
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Marked Region: ISCA-37417-Loss as ready
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Region: isca-37417-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Classified Region: ISCA-37417-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Region: isca-37417-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.132 ISCA-37417-Loss Zornitza Stark Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked, MIM# 308100
Review for Region: ISCA-37417-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Mendeliome v0.5576 CFAP52 Zornitza Stark gene: CFAP52 was added
gene: CFAP52 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP52 were set to 25469542; 33139725
Phenotypes for gene: CFAP52 were set to Heterotaxy
Review for gene: CFAP52 was set to GREEN
Added comment: Five unrelated families and functional data.
Sources: Literature
Heterotaxy v1.6 CFAP52 Zornitza Stark Marked gene: CFAP52 as ready
Heterotaxy v1.6 CFAP52 Zornitza Stark Gene: cfap52 has been classified as Green List (High Evidence).
Heterotaxy v1.6 CFAP52 Zornitza Stark Classified gene: CFAP52 as Green List (high evidence)
Heterotaxy v1.6 CFAP52 Zornitza Stark Gene: cfap52 has been classified as Green List (High Evidence).
Heterotaxy v1.5 CFAP52 Zornitza Stark gene: CFAP52 was added
gene: CFAP52 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP52 were set to 25469542; 33139725
Phenotypes for gene: CFAP52 were set to Heterotaxy
Review for gene: CFAP52 was set to GREEN
Added comment: Five unrelated families and functional data.
Sources: Literature
Mendeliome v0.5575 CFAP45 Zornitza Stark gene: CFAP45 was added
gene: CFAP45 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP45 were set to 33139725
Phenotypes for gene: CFAP45 were set to Situs inversus; asthenospermia
Review for gene: CFAP45 was set to GREEN
Added comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype.
Sources: Literature
Heterotaxy v1.4 CFAP45 Zornitza Stark Marked gene: CFAP45 as ready
Heterotaxy v1.4 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Heterotaxy v1.4 CFAP45 Zornitza Stark Classified gene: CFAP45 as Green List (high evidence)
Heterotaxy v1.4 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Heterotaxy v1.3 CFAP45 Zornitza Stark Classified gene: CFAP45 as Green List (high evidence)
Heterotaxy v1.3 CFAP45 Zornitza Stark Gene: cfap45 has been classified as Green List (High Evidence).
Heterotaxy v1.2 CFAP45 Zornitza Stark gene: CFAP45 was added
gene: CFAP45 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP45 were set to 33139725
Phenotypes for gene: CFAP45 were set to Situs inversus; asthenospermia
Review for gene: CFAP45 was set to GREEN
Added comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype.
Sources: Literature
Proteinuria v0.149 DAAM2 Zornitza Stark Marked gene: DAAM2 as ready
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Proteinuria v0.149 DAAM2 Zornitza Stark Marked gene: DAAM2 as ready
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Proteinuria v0.149 DAAM2 Zornitza Stark Classified gene: DAAM2 as Green List (high evidence)
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Autism v0.124 BICRA Zornitza Stark Marked gene: BICRA as ready
Autism v0.124 BICRA Zornitza Stark Gene: bicra has been classified as Green List (High Evidence).
Autism v0.124 BICRA Zornitza Stark Classified gene: BICRA as Green List (high evidence)
Autism v0.124 BICRA Zornitza Stark Gene: bicra has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3260 RLIM Zornitza Stark Publications for gene: RLIM were set to 29728705; 25735484; 25644381
Intellectual disability syndromic and non-syndromic v0.3259 RLIM Zornitza Stark Mode of pathogenicity for gene: RLIM was changed from to Other
Intellectual disability syndromic and non-syndromic v0.3258 RLIM Zornitza Stark changed review comment from: 14 males from 9 families reported with duplications involving RLIM gene, suggesting dosage effect.; to: 14 males from 9 families reported with duplications involving RLIM gene and intellectual disability, suggesting dosage effect.
Intellectual disability syndromic and non-syndromic v0.3258 RLIM Zornitza Stark edited their review of gene: RLIM: Added comment: 14 males from 9 families reported with duplications involving RLIM gene, suggesting dosage effect.; Changed mode of pathogenicity: Other; Changed publications: 29728705, 25735484, 25644381, 33159883
Red cell disorders v0.4 VPS4A Zornitza Stark Marked gene: VPS4A as ready
Red cell disorders v0.4 VPS4A Zornitza Stark Gene: vps4a has been classified as Green List (High Evidence).
Red cell disorders v0.4 VPS4A Zornitza Stark Classified gene: VPS4A as Green List (high evidence)
Red cell disorders v0.4 VPS4A Zornitza Stark Gene: vps4a has been classified as Green List (High Evidence).
Red cell disorders v0.3 VPS4A Zornitza Stark gene: VPS4A was added
gene: VPS4A was added to Rare anaemia_GEL. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to syndromic congenital dyserythropoietic anaemia
Mode of pathogenicity for gene: VPS4A was set to Other
Review for gene: VPS4A was set to GREEN
Added comment: 6 of 9 reported individuals had anaemia as part of a syndromic neurodevelopmental disorder.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3258 CLCN6 Zornitza Stark Marked gene: CLCN6 as ready
Intellectual disability syndromic and non-syndromic v0.3258 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3258 CLCN6 Zornitza Stark Classified gene: CLCN6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3258 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3257 CLCN6 Zornitza Stark gene: CLCN6 was added
gene: CLCN6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN6 were set to 33217309
Phenotypes for gene: CLCN6 were set to Developmental delay; neurodegeneration
Review for gene: CLCN6 was set to GREEN
Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.
Sources: Literature
Regression v0.220 CLCN6 Zornitza Stark Marked gene: CLCN6 as ready
Regression v0.220 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Regression v0.220 CLCN6 Zornitza Stark Classified gene: CLCN6 as Green List (high evidence)
Regression v0.220 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Regression v0.219 CLCN6 Zornitza Stark gene: CLCN6 was added
gene: CLCN6 was added to Regression. Sources: Literature
Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN6 were set to 33217309
Phenotypes for gene: CLCN6 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894
Review for gene: CLCN6 was set to GREEN
Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.
Sources: Literature
Mendeliome v0.5574 CLCN6 Zornitza Stark Mode of inheritance for gene: CLCN6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5573 CLCN6 Zornitza Stark Classified gene: CLCN6 as Green List (high evidence)
Mendeliome v0.5573 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Mendeliome v0.5572 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.; Changed rating: GREEN; Changed publications: 25794116, 21107136, 33217309; Changed phenotypes: Neurodegeneration, Benign partial epilepsy, febrile seizures, NCL; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.58 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to 25794116; 21107136; 33217309
Lysosomal Storage Disorder v0.57 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to 25794116; 21107136
Lysosomal Storage Disorder v0.57 CLCN6 Zornitza Stark Mode of pathogenicity for gene: CLCN6 was changed from to Other
Lysosomal Storage Disorder v0.56 CLCN6 Zornitza Stark Mode of inheritance for gene: CLCN6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.55 CLCN6 Zornitza Stark Classified gene: CLCN6 as Green List (high evidence)
Lysosomal Storage Disorder v0.55 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v0.54 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lysosomal Storage Disorder v0.54 CLCN6 Zornitza Stark edited their review of gene: CLCN6: Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications: 25794116, 21107136, 33217309; Changed phenotypes: Neurodegeneration, Benign partial epilepsy, febrile seizures, NCL
Arthrogryposis v0.246 HS2ST1 Zornitza Stark Classified gene: HS2ST1 as Amber List (moderate evidence)
Arthrogryposis v0.246 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.245 HS2ST1 Zornitza Stark gene: HS2ST1 was added
gene: HS2ST1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to Intellectual disability; dysmorphic features; congenital anomalies; arthrogryposis
Review for gene: HS2ST1 was set to AMBER
Added comment: 4 affected individuals from three unrelated families. Three of the individuals (two families) had arthrogryposis.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3256 HS2ST1 Zornitza Stark Phenotypes for gene: HS2ST1 were changed from to Intellectual disability; dysmorphic features; congenital anomalies
Intellectual disability syndromic and non-syndromic v0.3255 KDM4B Zornitza Stark Marked gene: KDM4B as ready
Intellectual disability syndromic and non-syndromic v0.3255 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3255 KDM4B Zornitza Stark Classified gene: KDM4B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3255 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.950 KDM4B Zornitza Stark Marked gene: KDM4B as ready
Genetic Epilepsy v0.950 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.950 KDM4B Zornitza Stark Classified gene: KDM4B as Green List (high evidence)
Genetic Epilepsy v0.950 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3254 SMG8 Zornitza Stark Publications for gene: SMG8 were set to 31130284
Intellectual disability syndromic and non-syndromic v0.3253 SMG8 Zornitza Stark Classified gene: SMG8 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3253 SMG8 Zornitza Stark Gene: smg8 has been classified as Green List (High Evidence).
Mendeliome v0.5572 GDF6 Zornitza Stark Phenotypes for gene: GDF6 were changed from Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898 to Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898; CAKUT
Mendeliome v0.5571 GDF6 Zornitza Stark Marked gene: GDF6 as ready
Mendeliome v0.5571 GDF6 Zornitza Stark Gene: gdf6 has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.131 ISCA-37433-Loss Elena Savva Classified Region: ISCA-37433-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.131 ISCA-37433-Loss Elena Savva Region: isca-37433-loss has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.78 GDF6 Zornitza Stark Marked gene: GDF6 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.78 GDF6 Zornitza Stark Gene: gdf6 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.78 GDF6 Zornitza Stark Classified gene: GDF6 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.78 GDF6 Zornitza Stark Gene: gdf6 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.77 GDF6 Zornitza Stark gene: GDF6 was added
gene: GDF6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF6 were set to 32737436
Phenotypes for gene: GDF6 were set to Syndromic CAKUT
Review for gene: GDF6 was set to GREEN
Added comment: Three individuals (three families) with kidney hypodysplasia and extrarenal manifestations, two of them additionally manifesting skeletal, ocular, or auricular abnormalities. Two with same variant c.746C>A p.(Ala249Glu) and the third with c.112G>C p.(Gly38Arg). "CRISPR/Cas9-derived knockout of Gdf6 attenuated migration of murine IMCD3 cells, an effect rescued by expression of wild-type but not mutant GDF6, indicating affected variant function regarding a fundamental developmental process. Knockdown of gdf6 in Xenopus laevis resulted in impaired pronephros development."
Sources: Literature
Mendeliome v0.5571 GDF6 Zornitza Stark Phenotypes for gene: GDF6 were changed from to Klippel-Feil syndrome 1, autosomal dominant 118100; Leber congenital amaurosis 17 615360; Microphthalmia with coloboma 6, digenic 613703; Microphthalmia, isolated 4 613094; Multiple synostoses syndrome 4 617898
Intellectual disability syndromic and non-syndromic v0.3252 HS2ST1 Elena Savva Mode of pathogenicity for gene: HS2ST1 was changed from None to None
Mendeliome v0.5570 GDF6 Zornitza Stark Publications for gene: GDF6 were set to 18425797; 19129173; 32737436
Intellectual disability syndromic and non-syndromic v0.3252 HS2ST1 Elena Savva Classified gene: HS2ST1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3252 HS2ST1 Elena Savva Gene: hs2st1 has been classified as Green List (High Evidence).
Mendeliome v0.5569 GDF6 Zornitza Stark Publications for gene: GDF6 were set to
Intellectual disability syndromic and non-syndromic v0.3251 HS2ST1 Elena Savva Marked gene: HS2ST1 as ready
Intellectual disability syndromic and non-syndromic v0.3251 HS2ST1 Elena Savva Added comment: Comment when marking as ready: - 4 affected from 3 unrelated families - 3 unique missense and 2 PTCs - Developmental Delay, Corpus Callosum Hypoplasia or Aplasia, and Skeletal and Renal Abnormalities
Intellectual disability syndromic and non-syndromic v0.3251 HS2ST1 Elena Savva Gene: hs2st1 has been removed from the panel.
Mendeliome v0.5568 GDF6 Zornitza Stark Mode of inheritance for gene: GDF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5567 GDF6 Zornitza Stark reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: None; Publications: 18425797, 19129173; Phenotypes: Klippel-Feil syndrome 1, autosomal dominant 118100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v0.12 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Eye Anterior Segment Abnormalities v0.12 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.12 CPAMD8 Zornitza Stark Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 PEX6 Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Amenorrhoea. Sources: Literature
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 32399598
Phenotypes for gene: PEX6 were set to Perrault syndrome
Review for gene: PEX6 was set to RED
Added comment: Well established gene-disease association for peroxisomal disorders, including milder end of the spectrum (Heimler syndrome). Single case report of Perrault syndrome as presenting phenotype.
Sources: Literature
Eye Anterior Segment Abnormalities v0.11 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to 32274568
Mendeliome v0.5567 GDF6 Belinda Chong reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32737436; Phenotypes: Klippel-Feil syndrome 1, autosomal dominant 118100, Leber congenital amaurosis 17 615360, Microphthalmia with coloboma 6, digenic 613703, Microphthalmia, isolated 4 613094, Multiple synostoses syndrome 4 617898; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Deafness_IsolatedAndComplex v1.31 NDRG1 Bryony Thompson Marked gene: NDRG1 as ready
Deafness_IsolatedAndComplex v1.31 NDRG1 Bryony Thompson Gene: ndrg1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.31 NDRG1 Bryony Thompson Phenotypes for gene: NDRG1 were changed from to Charcot-Marie-Tooth disease, type 4D MIM#601455; Syndromic auditory neuropathy spectrum disorder; Hereditary motor and sensory neuropathy Lom
Deafness_IsolatedAndComplex v1.30 NDRG1 Bryony Thompson Publications for gene: NDRG1 were set to
Deafness_IsolatedAndComplex v1.29 SLC52A3 Bryony Thompson Marked gene: SLC52A3 as ready
Deafness_IsolatedAndComplex v1.29 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.29 NDRG1 Bryony Thompson Classified gene: NDRG1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.29 NDRG1 Bryony Thompson Gene: ndrg1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.28 SLC52A3 Bryony Thompson Publications for gene: SLC52A3 were set to
Deafness_IsolatedAndComplex v1.27 TRPV4 Bryony Thompson Marked gene: TRPV4 as ready
Deafness_IsolatedAndComplex v1.27 TRPV4 Bryony Thompson Gene: trpv4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.27 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.26 TRPV4 Bryony Thompson Publications for gene: TRPV4 were set to
Deafness_IsolatedAndComplex v1.25 TRPV4 Bryony Thompson Phenotypes for gene: TRPV4 were changed from to Auditory neuropathy spectrum disorder; Peripheral neuropathy; Hearing loss
Deafness_IsolatedAndComplex v1.24 TRPV4 Bryony Thompson Classified gene: TRPV4 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.24 TRPV4 Bryony Thompson Gene: trpv4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.23 TRPV4 Bryony Thompson Classified gene: TRPV4 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.23 TRPV4 Bryony Thompson Gene: trpv4 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.21 TRPV4 Bryony Thompson gene: TRPV4 was added
gene: TRPV4 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.20 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Deafness_IsolatedAndComplex. Sources: Literature
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
Mendeliome v0.5567 PEX6 Dean Phelan reviewed gene: PEX6: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32399598; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva changed review comment from: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."; to: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.158 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Elena Savva Marked gene: VPS4A as ready
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Elena Savva Gene: vps4a has been removed from the panel.
Deafness_IsolatedAndComplex v1.19 NDRG1 Bryony Thompson gene: NDRG1 was added
gene: NDRG1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.949 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Genetic Epilepsy v0.949 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Genetic Epilepsy v0.948 VPS4A Elena Savva Marked gene: VPS4A as ready
Genetic Epilepsy v0.948 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Genetic Epilepsy v0.948 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.948 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Genetic Epilepsy v0.948 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.157 VPS4A Elena Savva Deleted their review
Dystonia and Chorea v0.157 VPS4A Elena Savva Marked gene: VPS4A as ready
Dystonia and Chorea v0.157 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Dystonia and Chorea v0.157 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Dystonia and Chorea v0.157 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Dystonia and Chorea v0.157 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Dystonia and Chorea v0.156 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Dystonia and Chorea v0.156 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Microcephaly v0.508 VPS4A Elena Savva changed review comment from: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."; to: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Microcephaly v0.508 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Microcephaly v0.508 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Microcephaly v0.508 VPS4A Elena Savva Marked gene: VPS4A as ready
Microcephaly v0.508 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Microcephaly v0.508 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Microcephaly v0.508 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Microcephaly v0.508 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva changed review comment from: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients. PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."; to: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Marked gene: VPS4A as ready
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance). Demonstrated defective CD71 trafficking in all 3 patients. PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3251 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Mendeliome v0.5567 VPS4A Kristin Rigbye changed review comment from: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.
"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature; to: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Cerebellar and Pontocerebellar Hypoplasia v0.157 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Genetic Epilepsy v0.947 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Dystonia and Chorea v0.155 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Microcephaly v0.507 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3250 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents - possibly just a simple LoF mechanism for AR inheritance).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.

"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Mendeliome v0.5567 VPS4A Elena Savva Deleted their review
Mendeliome v0.5567 VPS4A Elena Savva changed review comment from: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents). Demonstrated defective CD71 trafficking in all 3 patients. PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."; to: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents).
Demonstrated defective CD71 trafficking in all 3 patients.

Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents). Demonstrated defective CD71 trafficking in all 3 patients. PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5567 VPS4A Elena Savva Marked gene: VPS4A as ready
Mendeliome v0.5567 VPS4A Elena Savva Added comment: Comment when marking as ready: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain. 1x homozygous missense in the MIT domain (milder phenotype and unaffected parents). Demonstrated defective CD71 trafficking in all 3 patients. PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly). Demonstrated that the variants had a dominant-negative effect on VPS4A function. "The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Mendeliome v0.5567 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Mendeliome v0.5567 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Mendeliome v0.5567 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from Other to Other
Mendeliome v0.5567 VPS4A Elena Savva Added comment: Comment on mode of pathogenicity: Dominant negative
Mendeliome v0.5567 VPS4A Elena Savva Mode of pathogenicity for gene: VPS4A was changed from None to Other
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5566 VPS4A Elena Savva Classified gene: VPS4A as Green List (high evidence)
Mendeliome v0.5566 VPS4A Elena Savva Gene: vps4a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Proteinuria v0.148 DAAM2 Ain Roesley gene: DAAM2 was added
gene: DAAM2 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: DAAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAAM2 were set to 33232676
Phenotypes for gene: DAAM2 were set to steroid-resistant nephrotic syndrome (SRNS)
Penetrance for gene: DAAM2 were set to unknown
Review for gene: DAAM2 was set to GREEN
Added comment: - steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis on histologic analysis of kidney biopsies and foot process effacement shown by electron microscopy (authors have suggested the term nephrotic syndrome type 22 (NPHS22))
- 4 unrelated families, 3 of which were consanguineous
- 4 unique missense and 1 stop
- in vitro studies done for the missense variants
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5565 DAAM2 Zornitza Stark reviewed gene: DAAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33232676; Phenotypes: Steroid-resistant nephrotic syndrome (SRNS); Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5565 DAAM2 Zornitza Stark Marked gene: DAAM2 as ready
Mendeliome v0.5565 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3250 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5565 DAAM2 Zornitza Stark Publications for gene: DAAM2 were set to
Autism v0.123 BICRA Paul De Fazio gene: BICRA was added
gene: BICRA was added to Autism. Sources: Literature
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Review for gene: BICRA was set to GREEN
gene: BICRA was marked as current diagnostic
Added comment: 12 individuals reported, 11 de novo (1 not resolved), "with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5564 DAAM2 Zornitza Stark Classified gene: DAAM2 as Green List (high evidence)
Mendeliome v0.5564 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3249 HS2ST1 Ain Roesley gene: HS2ST1 was added
gene: HS2ST1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Penetrance for gene: HS2ST1 were set to unknown
Added comment: - 4 affected from 3 unrelated families
- 3 unique missense and 2 PTCs
- Developmental Delay, Corpus Callosum Hypoplasia or Aplasia, and Skeletal and Renal Abnormalities
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3249 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3248 BICRA Elena Savva Marked gene: BICRA as ready
Intellectual disability syndromic and non-syndromic v0.3248 BICRA Elena Savva Added comment: Comment when marking as ready: 12 individuals reported, 11 de novo (1 not resolved), "with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Intellectual disability syndromic and non-syndromic v0.3248 BICRA Elena Savva Gene: bicra has been removed from the panel.
Mendeliome v0.5563 HS2ST1 Zornitza Stark Marked gene: HS2ST1 as ready
Mendeliome v0.5563 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Green List (High Evidence).
Mendeliome v0.5563 HS2ST1 Zornitza Stark Phenotypes for gene: HS2ST1 were changed from to Intellectual disability; dysmorphic features; congenital anomalies
Intellectual disability syndromic and non-syndromic v0.3248 KDM4B Kristin Rigbye gene: KDM4B was added
gene: KDM4B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM4B were set to PMID: 33232677
Phenotypes for gene: KDM4B were set to Global developmental delay, intellectual disability and neuroanatomical defects
Review for gene: KDM4B was set to GREEN
Added comment: Nine individuals with mono-allelic de novo or inherited variants in KDM4B.

All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cystic formations, abnormal hippocampi, and polymicrogyria.

In a knockout mouse the total brain volume was significantly reduced with decreased
size of the hippocampal dentate gyrus, partial agenesis of the corpus callosum, and ventriculomegaly.
Sources: Literature
Mendeliome v0.5563 BICRA Elena Savva Marked gene: BICRA as ready
Mendeliome v0.5563 BICRA Elena Savva Added comment: Comment when marking as ready: 12 individuals reported, 11 de novo (1 not resolved), "with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Mendeliome v0.5563 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Mendeliome v0.5563 BICRA Elena Savva Classified gene: BICRA as Green List (high evidence)
Mendeliome v0.5563 BICRA Elena Savva Gene: bicra has been classified as Green List (High Evidence).
Genetic Epilepsy v0.947 KDM4B Kristin Rigbye gene: KDM4B was added
gene: KDM4B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM4B were set to PMID: 33232677
Phenotypes for gene: KDM4B were set to Global developmental delay, intellectual disability and neuroanatomical defects
Review for gene: KDM4B was set to GREEN
Added comment: Nine individuals with mono-allelic de novo or inherited variants in KDM4B.

All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cystic formations, abnormal hippocampi, and polymicrogyria.

In a knockout mouse the total brain volume was significantly reduced with decreased
size of the hippocampal dentate gyrus, partial agenesis of the corpus callosum, and ventriculomegaly.
Sources: Literature
Mendeliome v0.5562 HS2ST1 Zornitza Stark Classified gene: HS2ST1 as Green List (high evidence)
Mendeliome v0.5562 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.10 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to
Mendeliome v0.5561 KDM4B Zornitza Stark Marked gene: KDM4B as ready
Mendeliome v0.5561 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Mendeliome v0.5561 KDM4B Zornitza Stark Classified gene: KDM4B as Green List (high evidence)
Mendeliome v0.5561 KDM4B Zornitza Stark Gene: kdm4b has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.9 CPAMD8 Zornitza Stark Mode of inheritance for gene: CPAMD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3248 SMG8 Kristin Rigbye reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33242396; Phenotypes: Neuorodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5560 SMG8 Zornitza Stark Classified gene: SMG8 as Green List (high evidence)
Mendeliome v0.5560 SMG8 Zornitza Stark Gene: smg8 has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.130 ISCA-37433-Loss Elena Savva Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Review for Region: ISCA-37433-Loss was set to GREEN
Added comment: Established CNV
Sources: Expert list
Mendeliome v0.5559 UNC45B Zornitza Stark Marked gene: UNC45B as ready
Mendeliome v0.5559 UNC45B Zornitza Stark Gene: unc45b has been classified as Green List (High Evidence).
Mendeliome v0.5559 UNC45B Zornitza Stark Classified gene: UNC45B as Green List (high evidence)
Mendeliome v0.5559 UNC45B Zornitza Stark Gene: unc45b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3248 BICRA Paul De Fazio gene: BICRA was added
gene: BICRA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Review for gene: BICRA was set to GREEN
gene: BICRA was marked as current diagnostic
Added comment: 12 individuals reported, 11 de novo (1 not resolved), "with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Sources: Literature
Mendeliome v0.5558 VPS4A Kristin Rigbye gene: VPS4A was added
gene: VPS4A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to PMID: 33186543; 33186545
Phenotypes for gene: VPS4A were set to Neurodevelopmental disorder
Review for gene: VPS4A was set to GREEN
Added comment: PMID: 33186543 - 2x de novo hetorozygous missense variants in the AAA (large ATPase) domain.
1x homozygous missense in the MIT domain (milder phenotype and unaffected parents).
Demonstrated defective CD71 trafficking in all 3 patients.

PMID: 33186545 - 6x probands with de novo missense variants in the AAA domain. 5 of the variants were at amino acid position 284 (changes to Trp and Gly).
Demonstrated that the variants had a dominant-negative effect on VPS4A function.
"The six probands with de novo substitutions affecting Glu206 or Arg284 had a consistent phenotype characterized by severe DD, profound ID, and dystonia. Children were very delayed in establishing head control and none achieved independent walking. Other common findings were cerebellar hypoplasia (five individuals out of six, the other showing uncharacterized severe cerebral atrophy) with a variable degree of corpus callosum hypoplasia. One individual also had bilateral polymicrogyria. Epilepsy was present in three and dystonia in five subjects. Eye involvement was also a common finding, including congenital cataract, retinal dystrophy, and in one case congenital Leber amaurosis. Four individuals were diagnosed with hepatosplenomegaly and/or steatosis. Three subjects had anemia, which was characterized as dyserythropoietic in two. Severe feeding difficulties were present in four individuals, requiring assisted feeding in three. Two had sensorineural deafness. Severe growth retardation, generally for all parameters, was present in most cases. Notably, severe microcephaly (typically with Z scores < −5) was universal. Overall, the disorder seems to have a poor prognosis as two affected individuals died in childhood or early adult life."
Sources: Literature
Mendeliome v0.5558 AGO2 Zornitza Stark Marked gene: AGO2 as ready
Mendeliome v0.5558 AGO2 Zornitza Stark Gene: ago2 has been classified as Green List (High Evidence).
Mendeliome v0.5558 AGO2 Zornitza Stark Classified gene: AGO2 as Green List (high evidence)
Mendeliome v0.5558 AGO2 Zornitza Stark Gene: ago2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3248 AGO2 Zornitza Stark Classified gene: AGO2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3248 AGO2 Zornitza Stark Gene: ago2 has been classified as Green List (High Evidence).
Mendeliome v0.5557 AGO2 Zornitza Stark gene: AGO2 was added
gene: AGO2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AGO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO2 were set to 33199684
Phenotypes for gene: AGO2 were set to Intellectual disability
Review for gene: AGO2 was set to GREEN
Added comment: 21 individuals reported, five variants (p.L192P, p.G201V, p.T357M, p.M364T, p.C751Y) were recurrent. Variable ID.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3247 AGO2 Zornitza Stark Classified gene: AGO2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3247 AGO2 Zornitza Stark Gene: ago2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3246 AGO2 Zornitza Stark Marked gene: AGO2 as ready
Intellectual disability syndromic and non-syndromic v0.3246 AGO2 Zornitza Stark Gene: ago2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3246 AGO2 Zornitza Stark gene: AGO2 was added
gene: AGO2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: AGO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGO2 were set to 33199684
Phenotypes for gene: AGO2 were set to Intellectual disability
Review for gene: AGO2 was set to GREEN
Added comment: 21 individuals reported, five variants (p.L192P, p.G201V, p.T357M, p.M364T, p.C751Y) were recurrent. Variable ID.
Sources: Literature
Mendeliome v0.5556 DAAM2 Ain Roesley gene: DAAM2 was added
gene: DAAM2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DAAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAAM2 were set to steroid-resistant nephrotic syndrome (SRNS)
Penetrance for gene: DAAM2 were set to unknown
Review for gene: DAAM2 was set to GREEN
Added comment: - steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis on histologic analysis of kidney biopsies and foot process effacement shown by electron microscopy (authors have suggested the term nephrotic syndrome type 22 (NPHS22))
- 4 unrelated families, 3 of which were consanguineous
- 4 unique missense and 1 stop
- in vitro studies done for the missense variants
Sources: Literature
Mendeliome v0.5556 RRP7A Zornitza Stark Marked gene: RRP7A as ready
Mendeliome v0.5556 RRP7A Zornitza Stark Gene: rrp7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5556 RRP7A Zornitza Stark Classified gene: RRP7A as Amber List (moderate evidence)
Mendeliome v0.5556 RRP7A Zornitza Stark Gene: rrp7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5555 RRP7A Zornitza Stark gene: RRP7A was added
gene: RRP7A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RRP7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRP7A were set to 33199730
Phenotypes for gene: RRP7A were set to Microcephaly
Review for gene: RRP7A was set to AMBER
Added comment: 10 affected individuals from a single large consanguineous family where bi-allelic variant segregated with severe microcephaly (-6-8SD), variable ID. Supportive functional data from mouse and zebrafish.
Sources: Literature
Microcephaly v0.507 RRP7A Zornitza Stark Marked gene: RRP7A as ready
Microcephaly v0.507 RRP7A Zornitza Stark Gene: rrp7a has been classified as Amber List (Moderate Evidence).
Microcephaly v0.507 RRP7A Zornitza Stark Classified gene: RRP7A as Amber List (moderate evidence)
Microcephaly v0.507 RRP7A Zornitza Stark Gene: rrp7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5554 BICRA Paul De Fazio gene: BICRA was added
gene: BICRA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Review for gene: BICRA was set to GREEN
gene: BICRA was marked as current diagnostic
Added comment: 12 individuals reported, 11 de novo (1 not resolved), "with neurodevelopmental phenotypes—developmental delay (HP:0001263), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729), and/or behavioral phenotypes (HP:0000708)—and variable structural birth defects and dysmorphic features". Mostly LoF or gene deletions, but 2 missense reported. Zebrafish model supports the gene-disease association.
Sources: Literature
Microcephaly v0.506 RRP7A Zornitza Stark gene: RRP7A was added
gene: RRP7A was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: RRP7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRP7A were set to 33199730
Phenotypes for gene: RRP7A were set to Microcephaly
Review for gene: RRP7A was set to AMBER
Added comment: 10 affected individuals from a single large consanguineous family where bi-allelic variant segregated with severe microcephaly (-6-8SD), variable ID. Supportive functional data from mouse and zebrafish.
Sources: Literature
Cerebral Palsy v0.56 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Cerebral Palsy v0.56 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.56 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Cerebral Palsy v0.56 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.55 MINPP1 Zornitza Stark gene: MINPP1 was added
gene: MINPP1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia
Review for gene: MINPP1 was set to GREEN
Added comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.

Supportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions.
Sources: Literature
Mendeliome v0.5554 HS2ST1 Ain Roesley gene: HS2ST1 was added
gene: HS2ST1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Penetrance for gene: HS2ST1 were set to unknown
Review for gene: HS2ST1 was set to GREEN
Added comment: - 4 affected from 3 unrelated families
- 3 unique missense and 2 PTCs
- Developmental Delay, Corpus Callosum Hypoplasia or Aplasia, and Skeletal and Renal Abnormalities
Sources: Literature
Mendeliome v0.5554 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Mendeliome v0.5554 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Microcephaly v0.505 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Microcephaly v0.505 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Microcephaly v0.505 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Microcephaly v0.505 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Mendeliome v0.5554 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Mendeliome v0.5554 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Microcephaly v0.504 MINPP1 Zornitza Stark gene: MINPP1 was added
gene: MINPP1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia
Review for gene: MINPP1 was set to GREEN
Added comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.

Supportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions.
Sources: Literature
Mendeliome v0.5553 KDM4B Kristin Rigbye gene: KDM4B was added
gene: KDM4B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM4B were set to PMID: 33232677
Phenotypes for gene: KDM4B were set to Global developmental delay, intellectual disability and neuroanatomical defects
Review for gene: KDM4B was set to GREEN
Added comment: Nine individuals with mono-allelic de novo or inherited variants in KDM4B.

All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had anomalies on brain imaging ranging from agenesis of the corpus callosum with hydrocephalus to cystic formations, abnormal hippocampi, and polymicrogyria.

In a knockout mouse the total brain volume was significantly reduced with decreased
size of the hippocampal dentate gyrus, partial agenesis of the corpus callosum, and ventriculomegaly.
Sources: Literature
Mendeliome v0.5553 MINPP1 Zornitza Stark gene: MINPP1 was added
gene: MINPP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia
Review for gene: MINPP1 was set to GREEN
Added comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.

Supportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v0.157 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.157 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.156 MINPP1 Zornitza Stark gene: MINPP1 was added
gene: MINPP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia
Review for gene: MINPP1 was set to GREEN
Added comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.

Supportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions.
Sources: Literature
Eye Anterior Segment Abnormalities v0.8 CPAMD8 Dean Phelan reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32274568; Phenotypes: Anterior segment dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5552 UNC45B Paul De Fazio gene: UNC45B was added
gene: UNC45B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC45B were set to 33217308
Phenotypes for gene: UNC45B were set to Progressive Myopathy with Eccentric Cores
Review for gene: UNC45B was set to GREEN
gene: UNC45B was marked as current diagnostic
Added comment: 10 individuals from 8 families reported with biallelic variants clinically manifesting with childhood-onset, progressive proximal and axial muscle weakness and various degrees of respiratory insufficiency. 4 missense variants and a +5 splice variant reported, p.Arg754Gln is recurrent. Functional studies support pathogenicity.
Sources: Literature
Mendeliome v0.5552 SMG8 Kristin Rigbye reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33242396; Phenotypes: Neuorodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5552 RFC1 Teresa Zhao reviewed gene: RFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33103729; Phenotypes: Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Marked Region: ISCA-37478-Gain as ready
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Region: isca-37478-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Classified Region: ISCA-37478-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.129 ISCA-37478-Gain Zornitza Stark Region: isca-37478-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.128 ISCA-37478-Gain Zornitza Stark Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37478-Gain.
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia
Review for Region: ISCA-37478-Gain was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.127 Zornitza Stark removed region:ISCA-37478-Gain from the panel
Common deletion and duplication syndromes v0.126 ISCA-37434-Loss Zornitza Stark Marked Region: ISCA-37434-Loss as ready
Common deletion and duplication syndromes v0.126 ISCA-37434-Loss Zornitza Stark Region: isca-37434-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.126 ISCA-37434-Loss Zornitza Stark Phenotypes for Region: ISCA-37434-Loss were changed from Chromosome 1p36 deletion syndrome MIM#607872 to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Common deletion and duplication syndromes v0.125 ISCA-37434-Loss Zornitza Stark Classified Region: ISCA-37434-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.125 ISCA-37434-Loss Zornitza Stark Region: isca-37434-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Marked Region: ISCA-37433-Gain as ready
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Region: isca-37433-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Classified Region: ISCA-37433-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.124 ISCA-37433-Gain Zornitza Stark Region: isca-37433-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.123 ISCA-37432-Loss Zornitza Stark Marked Region: ISCA-37432-Loss as ready
Common deletion and duplication syndromes v0.123 ISCA-37432-Loss Zornitza Stark Region: isca-37432-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.123 ISCA-37432-Loss Zornitza Stark Phenotypes for Region: ISCA-37432-Loss were changed from Chromosome 17q12 deletion syndrome MIM#614527 to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome
Common deletion and duplication syndromes v0.122 ISCA-37432-Loss Zornitza Stark Classified Region: ISCA-37432-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.122 ISCA-37432-Loss Zornitza Stark Region: isca-37432-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.121 ISCA-37432-Gain Zornitza Stark Marked Region: ISCA-37432-Gain as ready
Common deletion and duplication syndromes v0.121 ISCA-37432-Gain Zornitza Stark Region: isca-37432-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.121 ISCA-37432-Gain Zornitza Stark Phenotypes for Region: ISCA-37432-Gain were changed from Chromosome 17q12 duplication syndrome 614526 to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Common deletion and duplication syndromes v0.120 ISCA-37432-Gain Zornitza Stark Classified Region: ISCA-37432-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.120 ISCA-37432-Gain Zornitza Stark Region: isca-37432-gain has been classified as Green List (High Evidence).
Incidentalome_PREGEN_DRAFT v0.5 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Incidentalome_PREGEN_DRAFT v0.5 ACTC1 Zornitza Stark Gene: actc1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.5 ACTC1 Zornitza Stark Classified gene: ACTC1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.5 ACTC1 Zornitza Stark Gene: actc1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.4 ABL1 Zornitza Stark Marked gene: ABL1 as ready
Incidentalome_PREGEN_DRAFT v0.4 ABL1 Zornitza Stark Gene: abl1 has been classified as Red List (Low Evidence).
Incidentalome_PREGEN_DRAFT v0.4 ABL1 Zornitza Stark Classified gene: ABL1 as Red List (low evidence)
Incidentalome_PREGEN_DRAFT v0.4 ABL1 Zornitza Stark Gene: abl1 has been classified as Red List (Low Evidence).
Common deletion and duplication syndromes v0.119 ISCA-37434-Loss Elena Savva Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872
Review for Region: ISCA-37434-Loss was set to GREEN
Added comment: Established CNV

The majority of deletions occur on the maternal chromosome.

Features include: Microbrachycephaly (65%), epicanthus (50%), large, late-closing anterior fontanel (77%), and posteriorly rotated, low-set, abnormal ears (40%), skeletal anomalies (41%), abnormal genitalia (25%), renal abnormalities (22%), hypotonia (95%), seizures (44%), sensorineural deafness (28%)
Sources: Expert list
Common deletion and duplication syndromes v0.119 ISCA-37433-Gain Elena Savva Region: ISCA-37433-Gain was added
Region: ISCA-37433-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Gain were set to PMID: 18707033
Phenotypes for Region: ISCA-37433-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363
Review for Region: ISCA-37433-Gain was set to GREEN
Added comment: Established CNV

Extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects.
Patients have been reported as both de novo and having inherited the dup from a healthy parent
Sources: Expert list
Common deletion and duplication syndromes v0.119 ISCA-37432-Loss Elena Savva Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Loss were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527
Review for Region: ISCA-37432-Loss was set to GREEN
Added comment: Established CNV

Includes HNF1B resulting in renal cysts and diabetes syndrome - cognitive impairment impairment is rare
Sources: Expert list
Common deletion and duplication syndromes v0.119 ISCA-37432-Gain Elena Savva Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37432-Gain were set to PMID: 19844256
Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526
Review for Region: ISCA-37432-Gain was set to GREEN
Added comment: Established CNV

Cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain.

OMIM notes healthy carriers with minor behavioural issues have been reported
Sources: Expert list
Polycystic liver disease v0.27 DNAJB11 Zornitza Stark edited their review of gene: DNAJB11: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Polycystic liver disease v0.27 DNAJB11 Zornitza Stark Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease (618061) to Polycystic kidney disease 6 with or without polycystic liver disease (618061); Ivermark II syndrome
Polycystic liver disease v0.26 DNAJB11 Zornitza Stark Publications for gene: DNAJB11 were set to 29706351
Polycystic liver disease v0.25 DNAJB11 Zornitza Stark Mode of inheritance for gene: DNAJB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Polycystic liver disease v0.24 DNAJB11 Zornitza Stark Deleted their comment
Polycystic liver disease v0.24 DNAJB11 Zornitza Stark edited their review of gene: DNAJB11: Added comment: Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.

Seven families described with phenotypes overlapping ADTKD and ADPKD and mono-allelic variants in this gene.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease (618061), Ivermark II syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5552 DNAJB11 Zornitza Stark Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061; Ivermark II syndrome.
Mendeliome v0.5551 DNAJB11 Zornitza Stark Publications for gene: DNAJB11 were set to 29706351; 29777155
Mendeliome v0.5550 DNAJB11 Zornitza Stark Mode of inheritance for gene: DNAJB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.5549 DNAJB11 Zornitza Stark changed review comment from: Seven unrelated. families described with phenotypes overlapping ADTKD and ADPKD, five different variants, one of these, p.Arg206* recurrent in three families.; to: Seven unrelated. families described with phenotypes overlapping ADTKD and ADPKD, five different mono-allelic variants, one of these, p.Arg206* recurrent in three families.
Mendeliome v0.5549 DNAJB11 Zornitza Stark edited their review of gene: DNAJB11: Added comment: Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Renal Macrocystic Disease v0.40 DNAJB11 Zornitza Stark Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061; Ivermark II syndrome.
Renal Macrocystic Disease v0.39 DNAJB11 Zornitza Stark Publications for gene: DNAJB11 were set to 29706351; 29777155
Renal Macrocystic Disease v0.38 DNAJB11 Zornitza Stark Mode of inheritance for gene: DNAJB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Renal Macrocystic Disease v0.37 DNAJB11 Zornitza Stark changed review comment from: Single family reported with severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.; to: Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.
Renal Macrocystic Disease v0.37 DNAJB11 Zornitza Stark changed review comment from: Seven families described with phenotypes overlapping ADTKD and ADPKD.
Sources: Expert list; to: Seven families described with phenotypes overlapping ADTKD and ADPKD and mono-allelic variants in this gene.
Sources: Expert list
Renal Macrocystic Disease v0.37 DNAJB11 Zornitza Stark edited their review of gene: DNAJB11: Added comment: Single family reported with severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.; Changed publications: 29706351, 29777155, 33129895; Changed phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.5549 MYLPF Zornitza Stark Phenotypes for gene: MYLPF were changed from Distal arthrogryoposis to Distal arthrogryposis type 1C (DA1C), MIM#619110
Mendeliome v0.5548 MYLPF Zornitza Stark edited their review of gene: MYLPF: Changed rating: AMBER; Changed phenotypes: Distal arthrogryposis type 1C (DA1C), MIM#619110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.244 MYLPF Zornitza Stark Phenotypes for gene: MYLPF were changed from Distal arthrogryoposis to Distal arthrogryposis type 1C (DA1C), MIM#619110
Arthrogryposis v0.243 MYLPF Zornitza Stark edited their review of gene: MYLPF: Changed rating: AMBER; Changed phenotypes: Distal arthrogryposis type 1C (DA1C), MIM#619110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.74 RPGRIP1L Zornitza Stark Classified gene: RPGRIP1L as Amber List (moderate evidence)
Anophthalmia_Microphthalmia_Coloboma v0.74 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.73 RPGRIP1L Zornitza Stark changed review comment from: Coloboma is part of the phenotype.
Sources: Expert list; to: Coloboma is part of the phenotype, however, only a single individual with the COACH phenotype has been reported to date. Well established ciliopathy gene.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.73 RPGRIP1L Zornitza Stark edited their review of gene: RPGRIP1L: Changed rating: AMBER; Changed phenotypes: COACH syndrome 3, MIM# 619113
Ciliopathies v0.218 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284 to COACH syndrome 2, MIM# 619111; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284
Ciliopathies v0.217 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.73 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from COACH syndrome, MIM#216360 to COACH syndrome 2, MIM# 619111
Anophthalmia_Microphthalmia_Coloboma v0.72 CC2D2A Zornitza Stark edited their review of gene: CC2D2A: Changed phenotypes: COACH syndrome 2, MIM# 619111
Mackenzie's Mission_Reproductive Carrier Screening v0.49 YIF1B Edwin Kirk reviewed gene: YIF1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Marked gene: HHAT as ready
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Classified gene: HHAT as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.155 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.154 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to AMBER
Added comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Expert list
Microcephaly v0.503 HHAT Zornitza Stark Classified gene: HHAT as Amber List (moderate evidence)
Microcephaly v0.503 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.49 TMEM94 Edwin Kirk reviewed gene: TMEM94: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Microcephaly v0.502 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Microcephaly. Sources: Expert list
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to AMBER
Added comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Expert list
Mendeliome v0.5548 HHAT Zornitza Stark Marked gene: HHAT as ready
Mendeliome v0.5548 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5548 HHAT Zornitza Stark Classified gene: HHAT as Amber List (moderate evidence)
Mendeliome v0.5548 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5547 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to AMBER
Added comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Expert list
Skeletal dysplasia v0.68 HHAT Zornitza Stark Marked gene: HHAT as ready
Skeletal dysplasia v0.68 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.68 HHAT Zornitza Stark Classified gene: HHAT as Amber List (moderate evidence)
Skeletal dysplasia v0.68 HHAT Zornitza Stark Gene: hhat has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.67 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to AMBER
Added comment: Two unrelated families reported. Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia.
Sources: Expert list
Mackenzie's Mission_Reproductive Carrier Screening v0.49 PUS7 Edwin Kirk reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.49 PTPN23 Edwin Kirk reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v0.153 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Cerebellar and Pontocerebellar Hypoplasia v0.152 KAT5 Zornitza Stark Deleted their comment
Cerebellar and Pontocerebellar Hypoplasia v0.152 KAT5 Zornitza Stark edited their review of gene: KAT5: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103, Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face
Mackenzie's Mission_Reproductive Carrier Screening v0.49 FITM2 Edwin Kirk reviewed gene: FITM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3245 KAT5 Zornitza Stark Deleted their comment
Mendeliome v0.5546 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Mendeliome v0.5545 KAT5 Zornitza Stark Deleted their comment
Mendeliome v0.5545 KAT5 Zornitza Stark edited their review of gene: KAT5: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.947 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Genetic Epilepsy v0.946 KAT5 Zornitza Stark reviewed gene: KAT5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3245 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face to Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Mackenzie's Mission_Reproductive Carrier Screening v0.49 ADPRHL2 Edwin Kirk changed review comment from: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view.; to: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view.

Note - I don't think I selected a rating when I entered the above, not certain if this matters.
Intellectual disability syndromic and non-syndromic v0.3244 KAT5 Zornitza Stark edited their review of gene: KAT5: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mackenzie's Mission_Reproductive Carrier Screening v0.49 DYNC1I2 Edwin Kirk reviewed gene: DYNC1I2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mackenzie's Mission_Reproductive Carrier Screening v0.49 ADPRHL2 Edwin Kirk commented on gene: ADPRHL2
Genetic Epilepsy v0.946 H3F3B Zornitza Stark Marked gene: H3F3B as ready
Genetic Epilepsy v0.946 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.946 H3F3B Zornitza Stark Classified gene: H3F3B as Green List (high evidence)
Genetic Epilepsy v0.946 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.945 H3F3B Zornitza Stark gene: H3F3B was added
gene: H3F3B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: H3F3B were set to 33268356
Phenotypes for gene: H3F3B were set to Intellectual disability; regression; seizures
Review for gene: H3F3B was set to GREEN
Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3244 H3F3B Zornitza Stark Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures
Intellectual disability syndromic and non-syndromic v0.3243 H3F3B Zornitza Stark Publications for gene: H3F3B were set to
Intellectual disability syndromic and non-syndromic v0.3242 H3F3B Zornitza Stark Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3241 H3F3B Zornitza Stark Classified gene: H3F3B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3241 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3240 H3F3B Zornitza Stark edited their review of gene: H3F3B: Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.218 H3F3B Zornitza Stark Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures
Regression v0.217 H3F3B Zornitza Stark Publications for gene: H3F3B were set to
Regression v0.216 H3F3B Zornitza Stark Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.215 H3F3B Zornitza Stark Classified gene: H3F3B as Green List (high evidence)
Regression v0.215 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Regression v0.214 H3F3B Zornitza Stark edited their review of gene: H3F3B: Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5545 H3F3B Zornitza Stark Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures
Mendeliome v0.5544 H3F3B Zornitza Stark Publications for gene: H3F3B were set to
Mendeliome v0.5543 H3F3B Zornitza Stark Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5542 H3F3B Zornitza Stark Classified gene: H3F3B as Green List (high evidence)
Mendeliome v0.5542 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Mendeliome v0.5541 H3F3B Zornitza Stark edited their review of gene: H3F3B: Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.944 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Genetic Epilepsy v0.944 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.944 H3F3A Zornitza Stark Classified gene: H3F3A as Green List (high evidence)
Genetic Epilepsy v0.944 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.943 H3F3A Zornitza Stark gene: H3F3A was added
gene: H3F3A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: H3F3A were set to 33268356
Phenotypes for gene: H3F3A were set to Intellectual disability; regression; seizures
Review for gene: H3F3A was set to GREEN
Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3240 H3F3A Zornitza Stark Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures
Intellectual disability syndromic and non-syndromic v0.3239 H3F3A Zornitza Stark Publications for gene: H3F3A were set to
Intellectual disability syndromic and non-syndromic v0.3238 H3F3A Zornitza Stark Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3237 H3F3A Zornitza Stark Classified gene: H3F3A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3237 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3236 H3F3A Zornitza Stark edited their review of gene: H3F3A: Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.214 H3F3A Zornitza Stark Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures
Regression v0.213 H3F3A Zornitza Stark Publications for gene: H3F3A were set to
Regression v0.212 H3F3A Zornitza Stark Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.211 H3F3A Zornitza Stark Classified gene: H3F3A as Green List (high evidence)
Regression v0.211 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Regression v0.210 H3F3A Zornitza Stark edited their review of gene: H3F3A: Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5541 H3F3A Zornitza Stark Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures
Mendeliome v0.5540 H3F3A Zornitza Stark Publications for gene: H3F3A were set to
Mendeliome v0.5539 H3F3A Zornitza Stark Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5538 H3F3A Zornitza Stark Classified gene: H3F3A as Green List (high evidence)
Mendeliome v0.5538 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Mendeliome v0.5537 H3F3A Zornitza Stark edited their review of gene: H3F3A: Changed phenotypes: Intellectual disability, regression, seizures
Mendeliome v0.5537 H3F3A Zornitza Stark edited their review of gene: H3F3A: Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Marked Region: ISCA-37431-Loss as ready
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Region: isca-37431-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Classified Region: ISCA-37431-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.119 ISCA-37431-Loss Zornitza Stark Region: isca-37431-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.118 ISCA-37431-Loss Zornitza Stark Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829
Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Review for Region: ISCA-37431-Loss was set to GREEN
Added comment: Approximately 5 to 20% of all individuals with NF1 have a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions. The 'NF1 microdeletion syndrome' is often characterised by a more severe phenotype than that observed in the majority of NF1 patients. In particular, there is often variable facial dysmorphism, intellectual disability, an excessive number of early-onset neurofibromas, and an increased risk for malignant peripheral nerve sheath tumours.
Sources: Expert list
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Marked Region: ISCA-37431-Gain as ready
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Region: isca-37431-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Classified Region: ISCA-37431-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.117 ISCA-37431-Gain Zornitza Stark Region: isca-37431-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.116 ISCA-37431-Gain Zornitza Stark Region: ISCA-37431-Gain was added
Region: ISCA-37431-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Gain were set to 22241097
Phenotypes for Region: ISCA-37431-Gain were set to Chromosome 17q11.2 duplication syndrome, 1.4-Mb MIM#618874; NF1 microduplication; intellectual disability; micro- and macrocephaly; seizures; dysmorphic features
Review for Region: ISCA-37431-Gain was set to GREEN
Added comment: The NF1 microduplication syndrome is characterized by mild to moderate impairment of intellectual development and mild facial dysmorphisms, with variable other features including early-onset baldness, tooth enamel hypoplasia, seizures, and macro- or microcephaly. Neurofibromas have not been reported
Sources: Expert list
Mendeliome v0.5537 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Mendeliome v0.5537 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Mendeliome v0.5537 ALDH7A1 Zornitza Stark Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent, MIM# 266100
Mendeliome v0.5536 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to
Mendeliome v0.5535 ALDH7A1 Zornitza Stark Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5534 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5534 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Mendeliome v0.5534 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Mendeliome v0.5534 PRPS1 Zornitza Stark Phenotypes for gene: PRPS1 were changed from to Arts syndrome MIM#301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 MIM#311070; Deafness, X-linked 1 MIM#304500; Gout, PRPS-related MIM#300661; Phosphoribosylpyrophosphate synthetase superactivity MIM#300661
Mendeliome v0.5533 PRPS1 Zornitza Stark Publications for gene: PRPS1 were set to
Mendeliome v0.5532 PRPS1 Zornitza Stark Mode of pathogenicity for gene: PRPS1 was changed from to Other
Mendeliome v0.5531 PRPS1 Zornitza Stark Mode of inheritance for gene: PRPS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.942 WWOX Zornitza Stark Marked gene: WWOX as ready
Genetic Epilepsy v0.942 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Genetic Epilepsy v0.942 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from to Developmental and epileptic encephalopathy 28, MIM# 616211
Genetic Epilepsy v0.941 WWOX Zornitza Stark Publications for gene: WWOX were set to
Genetic Epilepsy v0.940 WWOX Zornitza Stark Mode of inheritance for gene: WWOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.939 WWOX Zornitza Stark Tag SV/CNV tag was added to gene: WWOX.
Genetic Epilepsy v0.939 WWOX Zornitza Stark reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 24456803, 25411445, 32051108, 32037574; Phenotypes: Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3236 HIVEP2 Zornitza Stark Marked gene: HIVEP2 as ready
Intellectual disability syndromic and non-syndromic v0.3236 HIVEP2 Zornitza Stark Gene: hivep2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3236 HIVEP2 Zornitza Stark Phenotypes for gene: HIVEP2 were changed from to Mental retardation, autosomal dominant 43, MIM# 616977
Intellectual disability syndromic and non-syndromic v0.3235 HIVEP2 Zornitza Stark Publications for gene: HIVEP2 were set to
Intellectual disability syndromic and non-syndromic v0.3234 HIVEP2 Zornitza Stark Mode of inheritance for gene: HIVEP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3233 HIVEP2 Zornitza Stark reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26153216, 27003583, 16836985, 31602191, 31207095; Phenotypes: Mental retardation, autosomal dominant 43, MIM# 616977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5530 HIVEP2 Zornitza Stark Marked gene: HIVEP2 as ready
Mendeliome v0.5530 HIVEP2 Zornitza Stark Gene: hivep2 has been classified as Green List (High Evidence).
Mendeliome v0.5530 HIVEP2 Zornitza Stark Phenotypes for gene: HIVEP2 were changed from to Mental retardation, autosomal dominant 43 MIM#616977
Mendeliome v0.5529 HIVEP2 Zornitza Stark Publications for gene: HIVEP2 were set to
Mendeliome v0.5528 HIVEP2 Zornitza Stark Mode of inheritance for gene: HIVEP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5527 HIVEP2 Zornitza Stark reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26153216, 27003583, 16836985, 31602191; Phenotypes: Mental retardation, autosomal dominant 43, MIM# 616977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome_PREGEN_DRAFT v0.3 FBN1 Tony Roscioli reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 EWSR1 Tony Roscioli reviewed gene: EWSR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ETV6 Tony Roscioli reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ERC1 Tony Roscioli reviewed gene: ERC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 EPHB2 Tony Roscioli reviewed gene: EPHB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 EPCAM Tony Roscioli reviewed gene: EPCAM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ELAC2 Tony Roscioli reviewed gene: ELAC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 EGFR Tony Roscioli reviewed gene: EGFR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 DSP Tony Roscioli reviewed gene: DSP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 DSG2 Tony Roscioli reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 DSC2 Tony Roscioli reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 DIRC3 Tony Roscioli reviewed gene: DIRC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 DDIT3 Tony Roscioli reviewed gene: DDIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CHMP2B Tony Roscioli reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CHEK2 Tony Roscioli reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CDKN2A Tony Roscioli reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CDK4 Tony Roscioli reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 C9orf72 Tony Roscioli reviewed gene: C9orf72: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BCR Tony Roscioli reviewed gene: BCR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BAP1 Tony Roscioli reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 APP Tony Roscioli reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 APC Tony Roscioli commented on gene: APC
Incidentalome_PREGEN_DRAFT v0.3 CST3 Tony Roscioli reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CSF3R Tony Roscioli reviewed gene: CSF3R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CREB3L2 Tony Roscioli reviewed gene: CREB3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CREB3L1 Tony Roscioli reviewed gene: CREB3L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 COL3A1 Tony Roscioli reviewed gene: COL3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CDH1 Tony Roscioli reviewed gene: CDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CCND1 Tony Roscioli reviewed gene: CCND1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CCDC6 Tony Roscioli reviewed gene: CCDC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 CACNA1S Tony Roscioli reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BRCA2 Tony Roscioli reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BRCA1 Tony Roscioli commented on gene: BRCA1: A cause of a Mendelian disorder that could present in fetal life - however needs discussion
Incidentalome_PREGEN_DRAFT v0.3 BRCA1 Tony Roscioli reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BRAF Tony Roscioli reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BMPR1A Tony Roscioli reviewed gene: BMPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BIRC3 Tony Roscioli reviewed gene: BIRC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BCL6 Tony Roscioli reviewed gene: BCL6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 BCL2 Tony Roscioli reviewed gene: BCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ATP7B Tony Roscioli reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ATM Tony Roscioli reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ARL11 Tony Roscioli reviewed gene: ARL11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ACTC1 Tony Roscioli changed review comment from: A cause of a Mendelian disorder that could present in fetal life; to: A cause of a Mendelian disorder that could present in childhood
Incidentalome_PREGEN_DRAFT v0.3 ACTC1 Tony Roscioli reviewed gene: ACTC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ACTA2 Tony Roscioli reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 ABL1 Tony Roscioli reviewed gene: ABL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome_PREGEN_DRAFT v0.3 FGFR1 Tony Roscioli reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.939 WWOX Teresa Zhao reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30356099, 29808465; Phenotypes: Developmental and epileptic encephalopathy 28 (MIM#616211), Spinocerebellar ataxia 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5527 HIVEP2 Elena Savva reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31207095; Phenotypes: Mental retardation, autosomal dominant 43 MIM#616977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Marked Region: ISCA-37430-Loss as ready
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Region: isca-37430-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Classified Region: ISCA-37430-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.115 ISCA-37430-Loss Zornitza Stark Region: isca-37430-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.114 ISCA-37430-Loss Zornitza Stark Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200
Review for Region: ISCA-37430-Loss was set to GREEN
Added comment: Well established CNV, LIS1 gene deletion associated with lissencephaly.
Sources: Expert list
Mendeliome v0.5527 PRPS1 Elena Savva reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32781272, 17701896, 7593598; Phenotypes: Arts syndrome MIM#301835, Charcot-Marie-Tooth disease, X-linked recessive, 5 MIM#311070, Deafness, X-linked 1 MIM#304500, Gout, PRPS-related MIM#300661, Phosphoribosylpyrophosphate synthetase superactivity MIM#300661; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.939 YIPF5 Zornitza Stark Marked gene: YIPF5 as ready
Genetic Epilepsy v0.939 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.939 YIPF5 Zornitza Stark Classified gene: YIPF5 as Green List (high evidence)
Genetic Epilepsy v0.939 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.938 YIPF5 Zornitza Stark gene: YIPF5 was added
gene: YIPF5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures
Review for gene: YIPF5 was set to GREEN
Added comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association.
Sources: Literature
Microcephaly v0.501 YIPF5 Zornitza Stark Marked gene: YIPF5 as ready
Microcephaly v0.501 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Microcephaly v0.501 YIPF5 Zornitza Stark Classified gene: YIPF5 as Green List (high evidence)
Microcephaly v0.501 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Microcephaly v0.500 YIPF5 Zornitza Stark gene: YIPF5 was added
gene: YIPF5 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures
Review for gene: YIPF5 was set to GREEN
Added comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association.
Sources: Literature
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Marked gene: YIPF5 as ready
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Classified gene: YIPF5 as Green List (high evidence)
Monogenic Diabetes v0.6 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.5 YIPF5 Zornitza Stark gene: YIPF5 was added
gene: YIPF5 was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures
Review for gene: YIPF5 was set to GREEN
Added comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association.
Sources: Literature
Mendeliome v0.5527 YIPF5 Zornitza Stark Marked gene: YIPF5 as ready
Mendeliome v0.5527 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Mendeliome v0.5527 YIPF5 Zornitza Stark Classified gene: YIPF5 as Green List (high evidence)
Mendeliome v0.5527 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Mendeliome v0.5526 YIPF5 Zornitza Stark gene: YIPF5 was added
gene: YIPF5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures
Review for gene: YIPF5 was set to GREEN
Added comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association.
Sources: Literature
Early-onset Dementia v0.130 ATP7B Bryony Thompson edited their review of gene: ATP7B: Changed publications: 26758278, 25988284
Mendeliome v0.5525 ALDH7A1 Eleanor Williams reviewed gene: ALDH7A1: Rating: ; Mode of pathogenicity: None; Publications: 32969477; Phenotypes: ; Mode of inheritance: None
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Marked Region: ISCA-37430-Gain as ready
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Region: isca-37430-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Classified Region: ISCA-37430-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.113 ISCA-37430-Gain Zornitza Stark Region: isca-37430-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.112 ISCA-37430-Gain Zornitza Stark Region: ISCA-37430-Gain was added
Region: ISCA-37430-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37430-Gain.
Mode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Gain were set to Chromosome 17p13.3 duplication syndrome, centromeric, MIM#613215; intellectual disability
Review for Region: ISCA-37430-Gain was set to GREEN
Added comment: Well established CNV, involving the LIS1 and/or YWHAE genes. Individuals with LIS1 duplications have brain abnormalities, including microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tend to have macrosomia, facial dysmorphism, and mild developmental delay.
Sources: Expert list
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Marked Region: ISCA-37429-Loss as ready
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Region: isca-37429-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Classified Region: ISCA-37429-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.111 ISCA-37429-Loss Zornitza Stark Region: isca-37429-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.110 ISCA-37429-Loss Zornitza Stark Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37429-Loss.
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM# 194190; intellectual disability; growth retardation; seizures; dysmorphic features
Review for Region: ISCA-37429-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark edited their review of Region: ISCA-37425-Loss: Changed phenotypes: Sotos syndrome, chromosome 5q35 deletion, intellectual disability, overgrowth
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark Marked Region: ISCA-37425-Loss as ready
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.109 ISCA-37425-Loss Zornitza Stark Phenotypes for Region: ISCA-37425-Loss were changed from to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth
Common deletion and duplication syndromes v0.108 ISCA-37425-Loss Zornitza Stark Classified Region: ISCA-37425-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.108 ISCA-37425-Loss Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.107 ISCA-37425-Loss Zornitza Stark Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37425-Loss.
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Loss were set to 23190751; 19596467
Review for Region: ISCA-37425-Loss was set to GREEN
Added comment: Deletions of NSD1 are a common cause of Sotos syndrome.
Sources: Expert list
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Marked Region: ISCA-37425-Gain as ready
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Region: isca-37425-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Classified Region: ISCA-37425-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.106 ISCA-37425-Gain Zornitza Stark Region: isca-37425-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.105 ISCA-37425-Gain Zornitza Stark Region: ISCA-37425-Gain was added
Region: ISCA-37425-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37425-Gain.
Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Gain were set to 24819041
Phenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures
Review for Region: ISCA-37425-Gain was set to GREEN
Added comment: Reciprocal duplication including NSD1, supporting gene dosage effect of NSD1 on growth regulation and neurological function.
Sources: Expert list
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Marked Region: ISCA-37424-Loss as ready
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Region: isca-37424-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Classified Region: ISCA-37424-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.104 ISCA-37424-Loss Zornitza Stark Region: isca-37424-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.103 ISCA-37424-Loss Zornitza Stark Region: ISCA-37424-Loss was added
Region: ISCA-37424-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37424-Loss.
Mode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37424-Loss were set to 20345475; 25846706
Phenotypes for Region: ISCA-37424-Loss were set to Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked); intellectual disability; autism; macrocephaly
Review for Region: ISCA-37424-Loss was set to GREEN
Added comment: Established CNV. Note deletions typically include BMPR1A and sometimes PTEN, which have implications for cancer surveillance.
Sources: Expert list
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Marked Region: ISCA-37423-Loss as ready
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Region: isca-37423-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Classified Region: ISCA-37423-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.102 ISCA-37423-Loss Zornitza Stark Region: isca-37423-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.101 ISCA-37423-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37423-Loss.
Common deletion and duplication syndromes v0.101 ISCA-37423-Loss Zornitza Stark Region: ISCA-37423-Loss was added
Region: ISCA-37423-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37423-Loss were set to 23696316; 23011633; 20969981
Phenotypes for Region: ISCA-37423-Loss were set to 8p23.1 deletion syndrome; congenital heart disease; developmental delay
Review for Region: ISCA-37423-Loss was set to GREEN
Added comment: Well established CNV. Deletion of GATA4 linked to congenital heart defects.
Sources: Expert list
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Marked Region: ISCA-37423-Gain as ready
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Region: isca-37423-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Classified Region: ISCA-37423-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.100 ISCA-37423-Gain Zornitza Stark Region: isca-37423-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.99 ISCA-37423-Gain Zornitza Stark Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37423-Gain.
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37423-Gain were set to 26097203; 25520754
Phenotypes for Region: ISCA-37423-Gain were set to 8p23.1 duplication syndrome; intellectual disability; congenital heart disease
Review for Region: ISCA-37423-Gain was set to GREEN
Added comment: Well established CNV. Duplication of GATA4 is thought to be responsible for the association with congenital heart disease.
Sources: Expert list
Common deletion and duplication syndromes v0.98 ISCA-37446-Gain Zornitza Stark Marked Region: ISCA-37446-Gain as ready
Common deletion and duplication syndromes v0.98 ISCA-37446-Gain Zornitza Stark Region: isca-37446-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.98 ISCA-37446-Gain Zornitza Stark Phenotypes for Region: ISCA-37446-Gain were changed from Chromosome 22q11.2 microduplication syndrome MIM#608363 to Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark edited their review of Region: ISCA-37446-Gain: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark reviewed Region: ISCA-37446-Gain: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D; Mode of inheritance: None
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark Classified Region: ISCA-37446-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.97 ISCA-37446-Gain Zornitza Stark Region: isca-37446-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.96 ISCA-37443-Loss Zornitza Stark Marked Region: ISCA-37443-Loss as ready
Common deletion and duplication syndromes v0.96 ISCA-37443-Loss Zornitza Stark Region: isca-37443-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.96 ISCA-37443-Loss Zornitza Stark Phenotypes for Region: ISCA-37443-Loss were changed from Chromosome 3q29 microdeletion syndrome MIM#609425 to Chromosome 3q29 microdeletion syndrome MIM#609425; intellectual disability; autism
Common deletion and duplication syndromes v0.95 ISCA-37443-Loss Zornitza Stark Classified Region: ISCA-37443-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.95 ISCA-37443-Loss Zornitza Stark Region: isca-37443-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.94 ISCA-37441-Loss Zornitza Stark Marked Region: ISCA-37441-Loss as ready
Common deletion and duplication syndromes v0.94 ISCA-37441-Loss Zornitza Stark Region: isca-37441-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.94 ISCA-37441-Loss Zornitza Stark Phenotypes for Region: ISCA-37441-Loss were changed from Potocki-Shaffer syndrome MIM#601224 to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina
Common deletion and duplication syndromes v0.93 ISCA-37441-Loss Zornitza Stark Classified Region: ISCA-37441-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.93 ISCA-37441-Loss Zornitza Stark Region: isca-37441-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.92 ISCA-37436-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37436-Loss.
Common deletion and duplication syndromes v0.92 ISCA-37440-Loss Zornitza Stark Marked Region: ISCA-37440-Loss as ready
Common deletion and duplication syndromes v0.92 ISCA-37440-Loss Zornitza Stark Region: isca-37440-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.92 ISCA-37440-Loss Zornitza Stark Phenotypes for Region: ISCA-37440-Loss were changed from 2p21 deletion syndrome to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407
Common deletion and duplication syndromes v0.91 ISCA-37440-Loss Zornitza Stark Classified Region: ISCA-37440-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.91 ISCA-37440-Loss Zornitza Stark Region: isca-37440-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Marked Region: ISCA-37439-Gain as ready
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Region: isca-37439-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Classified Region: ISCA-37439-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.90 ISCA-37439-Gain Zornitza Stark Region: isca-37439-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.89 ISCA-37436-Loss Zornitza Stark Marked Region: ISCA-37436-Loss as ready
Common deletion and duplication syndromes v0.89 ISCA-37436-Loss Zornitza Stark Region: isca-37436-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.89 ISCA-37436-Loss Zornitza Stark Phenotypes for Region: ISCA-37436-Loss were changed from Hereditary neuropathy with liability to pressure palsies to Neuropathy, recurrent, with pressure palsies, MIM# 162500
Common deletion and duplication syndromes v0.88 ISCA-37436-Loss Zornitza Stark Classified Region: ISCA-37436-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.88 ISCA-37436-Loss Zornitza Stark Region: isca-37436-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.87 ISCA-37436-Loss Zornitza Stark reviewed Region: ISCA-37436-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, recurrent, with pressure palsies, MIM# 162500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.87 ISCA-37468-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37468-Loss.
Common deletion and duplication syndromes v0.87 ISCA-37493-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37493-Loss.
Common deletion and duplication syndromes v0.87 ISCA-37436-Gain Zornitza Stark Marked Region: ISCA-37436-Gain as ready
Common deletion and duplication syndromes v0.87 ISCA-37436-Gain Zornitza Stark Region: isca-37436-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.87 ISCA-37436-Gain Zornitza Stark Phenotypes for Region: ISCA-37436-Gain were changed from Charcot-Marie-Tooth disease type 1A to Charcot-Marie-Tooth disease type 1A, MIM#118220
Common deletion and duplication syndromes v0.86 ISCA-37436-Gain Zornitza Stark Classified Region: ISCA-37436-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.86 ISCA-37436-Gain Zornitza Stark Region: isca-37436-gain has been classified as Green List (High Evidence).
Mendeliome v0.5525 TFE3 Zornitza Stark Publications for gene: TFE3 were set to 30595499; 31833172; 33057194
Mendeliome v0.5524 TFE3 Zornitza Stark Mode of inheritance for gene: TFE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5523 TFE3 Zornitza Stark edited their review of gene: TFE3: Added comment: PMID: 32409512 (2020) - 14 variants reported as de novo events in 17 unrelated cases (including 5 previously published) of severe intellectual disability with pigmentary mosaicism and storage disorder-like features; Changed publications: 30595499, 31833172, 32409512; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.937 TFE3 Zornitza Stark Publications for gene: TFE3 were set to 30595499; 31833172
Genetic Epilepsy v0.936 TFE3 Zornitza Stark Mode of pathogenicity for gene: TFE3 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
Genetic Epilepsy v0.935 TFE3 Zornitza Stark Mode of inheritance for gene: TFE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.3233 TFE3 Zornitza Stark Mode of inheritance for gene: TFE3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.934 TFE3 Zornitza Stark edited their review of gene: TFE3: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.934 TFE3 Zornitza Stark edited their review of gene: TFE3: Added comment: PMID: 32409512 (2020) - 14 variants reported as de novo events in 17 unrelated cases (including 5 previously published) of severe intellectual disability with pigmentary mosaicism and storage disorder-like features; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 30595499, 31833172, 32409512; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3232 TFE3 Zornitza Stark Publications for gene: TFE3 were set to 30595499; 31833172
Intellectual disability syndromic and non-syndromic v0.3231 TFE3 Zornitza Stark Mode of pathogenicity for gene: TFE3 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
Intellectual disability syndromic and non-syndromic v0.3230 TFE3 Zornitza Stark Mode of inheritance for gene: TFE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Foveal Hypoplasia v0.7 SLC38A8 Zornitza Stark Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis MIM#609218 to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
Foveal Hypoplasia v0.6 SLC38A8 Zornitza Stark Publications for gene: SLC38A8 were set to 24045842; 24290379
Foveal Hypoplasia v0.5 SLC38A8 Zornitza Stark reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5523 SLC38A8 Zornitza Stark Marked gene: SLC38A8 as ready
Mendeliome v0.5523 SLC38A8 Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence).
Mendeliome v0.5523 SLC38A8 Zornitza Stark Phenotypes for gene: SLC38A8 were changed from to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
Mendeliome v0.5522 SLC38A8 Zornitza Stark Publications for gene: SLC38A8 were set to
Mendeliome v0.5521 SLC38A8 Zornitza Stark Mode of inheritance for gene: SLC38A8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Marked gene: CAPN15 as ready
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Classified gene: CAPN15 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.72 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.71 CAPN15 Zornitza Stark gene: CAPN15 was added
gene: CAPN15 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589
Review for gene: CAPN15 was set to GREEN
Added comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.
Sources: Literature
Mendeliome v0.5520 CAPN15 Zornitza Stark Marked gene: CAPN15 as ready
Mendeliome v0.5520 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Mendeliome v0.5520 CAPN15 Zornitza Stark Classified gene: CAPN15 as Green List (high evidence)
Mendeliome v0.5520 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.66 TONSL Zornitza Stark Marked gene: TONSL as ready
Skeletal dysplasia v0.66 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Skeletal dysplasia v0.66 TONSL Zornitza Stark Classified gene: TONSL as Green List (high evidence)
Skeletal dysplasia v0.66 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Skeletal dysplasia v0.65 TONSL Zornitza Stark gene: TONSL was added
gene: TONSL was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TONSL were set to 30773277; 30773278; 32959051
Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510; spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068
Review for gene: TONSL was set to GREEN
Added comment: Associated with Spondyloepimetaphyseal dysplasia, sponastrime type MIM#271510 (AR) in OMIM.

PMID: 30773277 - Burrage et al 2019 - identified, using WES or Sanger sequencing, compound heterozygous variants in TONSL in 9 individuals (8 families) with SPONASTRIME dysplasia. 4 other probands with SPONASTRIME dysplasia did not have biallelic variants in TONSL or in MMS22L, but two of them did have a single heterozygous variants in TONSL. The authors say they cannot exclude deep intronic, promotor variants or large intragenic rearrangements/deletions in these patients. An additional 4 individuals (3 families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities were also found to have compound heterozygous variants in TONSL.

PMID: 30773278 - Chang et al 2019 - Using WES they identified homozygous or compound heterozygous TONSL variants in 10 of 13 individuals (9 families) with SPONASTRIME dysplasia.

PMID: 32959051 - Micale et al 2020 - report a 9-year-old Italian girl with typical SPONASTRIME dysplasia who was found to have two novel missense variants in TONSL. Each parent was heterozygous for one of the variants. Both variants were found to be very rare in the gnomad database. Patient-derived fibroblasts show increased levels of spontaneous chromosomal breaks, reduced cell proliferation and enhanced apoptosis.
Sources: Literature
Mendeliome v0.5519 TONSL Zornitza Stark Marked gene: TONSL as ready
Mendeliome v0.5519 TONSL Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence).
Mendeliome v0.5519 TONSL Zornitza Stark Phenotypes for gene: TONSL were changed from to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510; spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068
Mendeliome v0.5518 TONSL Zornitza Stark Publications for gene: TONSL were set to
Mendeliome v0.5517 TONSL Zornitza Stark Mode of inheritance for gene: TONSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5516 FKBP8 Zornitza Stark Marked gene: FKBP8 as ready
Mendeliome v0.5516 FKBP8 Zornitza Stark Gene: fkbp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5516 FKBP8 Zornitza Stark Classified gene: FKBP8 as Amber List (moderate evidence)
Mendeliome v0.5516 FKBP8 Zornitza Stark Gene: fkbp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5515 NPPA Zornitza Stark Classified gene: NPPA as Amber List (moderate evidence)
Mendeliome v0.5515 NPPA Zornitza Stark Gene: nppa has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5514 NPPA Zornitza Stark Marked gene: NPPA as ready
Mendeliome v0.5514 NPPA Zornitza Stark Gene: nppa has been classified as Green List (High Evidence).
Mendeliome v0.5514 NPPA Zornitza Stark Phenotypes for gene: NPPA were changed from to Atrial fibrillation, familial, 6, (MIM#612201)
Mendeliome v0.5513 NPPA Zornitza Stark Publications for gene: NPPA were set to
Mendeliome v0.5512 NPPA Zornitza Stark Mode of inheritance for gene: NPPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atrial Fibrillation v0.6 NPPA Zornitza Stark Marked gene: NPPA as ready
Atrial Fibrillation v0.6 NPPA Zornitza Stark Added comment: Comment when marking as ready: Two families and functional data, including animal models but note AF is relatively common and generally multifactorial so more evidence would be desirable for Green rating.
Atrial Fibrillation v0.6 NPPA Zornitza Stark Gene: nppa has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5511 NPPA Zornitza Stark reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18614783, 20064500, 31034774, 31077706; Phenotypes: Atrial fibrillation, familial, 6, (MIM#612201); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atrial Fibrillation v0.6 NPPA Zornitza Stark Marked gene: NPPA as ready
Atrial Fibrillation v0.6 NPPA Zornitza Stark Gene: nppa has been classified as Amber List (Moderate Evidence).
Atrial Fibrillation v0.6 NPPA Zornitza Stark Phenotypes for gene: NPPA were changed from to Atrial fibrillation, familial, 6, (MIM#612201)
Atrial Fibrillation v0.5 NPPA Zornitza Stark Publications for gene: NPPA were set to
Atrial Fibrillation v0.4 NPPA Zornitza Stark Mode of inheritance for gene: NPPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atrial Fibrillation v0.3 NPPA Zornitza Stark Classified gene: NPPA as Amber List (moderate evidence)
Atrial Fibrillation v0.3 NPPA Zornitza Stark Gene: nppa has been classified as Amber List (Moderate Evidence).
Autism v0.123 USP7 Zornitza Stark changed review comment from: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.; to: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.
Mendeliome v0.5511 FOXA2 Zornitza Stark Marked gene: FOXA2 as ready
Mendeliome v0.5511 FOXA2 Zornitza Stark Gene: foxa2 has been classified as Green List (High Evidence).
Mendeliome v0.5511 FOXA2 Zornitza Stark Classified gene: FOXA2 as Green List (high evidence)
Mendeliome v0.5511 FOXA2 Zornitza Stark Gene: foxa2 has been classified as Green List (High Evidence).
Mendeliome v0.5510 FOXA2 Zornitza Stark gene: FOXA2 was added
gene: FOXA2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXA2 were set to 29329447; 28973288; 11445544
Phenotypes for gene: FOXA2 were set to Hyperinsulinaemia
Review for gene: FOXA2 was set to GREEN
Added comment: At least two families reported and functional data.
Sources: Expert Review
Autism v0.123 USP7 Zornitza Stark Marked gene: USP7 as ready
Autism v0.123 USP7 Zornitza Stark Gene: usp7 has been classified as Green List (High Evidence).
Autism v0.123 USP7 Zornitza Stark Phenotypes for gene: USP7 were changed from to Hao-Fountain syndrome, MIM# 616863; Intellectual disability; Autism
Autism v0.122 USP7 Zornitza Stark Publications for gene: USP7 were set to
Autism v0.121 USP7 Zornitza Stark Mode of inheritance for gene: USP7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.120 USP7 Zornitza Stark reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26365382, 30679821; Phenotypes: Hao-Fountain syndrome, MIM# 616863, Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5509 USP7 Zornitza Stark Phenotypes for gene: USP7 were changed from Intellectual disability; Autism to Hao-Fountain syndrome, MIM# 616863; Intellectual disability; Autism
Mendeliome v0.5508 USP7 Zornitza Stark Publications for gene: USP7 were set to 30679821
Mendeliome v0.5507 USP7 Zornitza Stark edited their review of gene: USP7: Added comment: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging.; Changed publications: 26365382, 30679821; Changed phenotypes: Hao-Fountain syndrome, MIM# 616863, Intellectual disability, Autism
Intellectual disability syndromic and non-syndromic v0.3229 USP7 Zornitza Stark Phenotypes for gene: USP7 were changed from ID; Autism to Hao-Fountain syndrome, MIM# 616863; ID; Autism
Intellectual disability syndromic and non-syndromic v0.3228 USP7 Zornitza Stark Publications for gene: USP7 were set to 30679821
Intellectual disability syndromic and non-syndromic v0.3227 USP7 Zornitza Stark edited their review of gene: USP7: Changed publications: 26365382, 30679821
Intellectual disability syndromic and non-syndromic v0.3227 USP7 Zornitza Stark reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hao-Fountain syndrome, MIM# 616863; Mode of inheritance: None
Mendeliome v0.5507 FKBP8 Eleanor Williams gene: FKBP8 was added
gene: FKBP8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FKBP8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FKBP8 were set to 32969478
Phenotypes for gene: FKBP8 were set to spina bifida HP:0002414
Review for gene: FKBP8 was set to AMBER
Added comment: Not associated with a phenotype in OMIM.

PMID: 32969478 - Tian et al 2020 - performed Sanger sequencing of FKBP8 on DNA samples from 472 spina bifida (SB) affected fetuses and 565 unaffected controls. 5 different rare heterozygous variants (MAF ≤ 0.001) were identified among the SB patients, while no deleterious rare variants were identified in the controls. 4 of the variants are missense, the other is a stop-gain. 2 cases were in white-Hispanic patients while the other 3 were non-white Hispanic. Functional studies showed that p.Glu140* affected FKBP8 localization to the mitochondria and impaired its interaction with BCL2 ultimately leading to an increase in cellular apoptosis. p.Ser3Leu, p.Lys315Asn and p.Ala292Ser variants decreased FKBP8 protein level. Gene expression was studied in mouse Fkbp8-/- embryos and found to be abnormal. Previous mouse models have shown neural tube defects.

Sufficient cases to rate green, but only the FKBP8 gene looked at so perhaps some caution required while further evidence is gathered.
Sources: Literature
Mendeliome v0.5507 TONSL Eleanor Williams reviewed gene: TONSL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30773277, 30773278, 32959051; Phenotypes: Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510, spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5507 CAPN15 Eleanor Williams changed review comment from: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families).
Sources: Literature; to: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.

Sources: Literature
Mendeliome v0.5507 CAPN15 Eleanor Williams gene: CAPN15 was added
gene: CAPN15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589
Review for gene: CAPN15 was set to GREEN
Added comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families).
Sources: Literature
Mendeliome v0.5507 SLC38A8 Eleanor Williams reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3227 TFE3 Arina Puzriakova reviewed gene: TFE3: 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: 32409512; Phenotypes: TFE3-related intellectual disability with pigmentary mosaicism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5507 MYF5 Zornitza Stark Marked gene: MYF5 as ready
Mendeliome v0.5507 MYF5 Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence).
Mendeliome v0.5507 MYF5 Zornitza Stark Phenotypes for gene: MYF5 were changed from to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855
Mendeliome v0.5506 MYF5 Zornitza Stark Publications for gene: MYF5 were set to
Mendeliome v0.5505 MYF5 Zornitza Stark Mode of inheritance for gene: MYF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5504 MYF5 Zornitza Stark reviewed gene: MYF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29887215, 15386014, 1423602, 9268580, 8918877; Phenotypes: Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital ophthalmoplegia v0.72 MYF5 Zornitza Stark Publications for gene: MYF5 were set to PMID: 29887215
Congenital ophthalmoplegia v0.71 MYF5 Zornitza Stark Marked gene: MYF5 as ready
Congenital ophthalmoplegia v0.71 MYF5 Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.71 MYF5 Zornitza Stark Classified gene: MYF5 as Green List (high evidence)
Congenital ophthalmoplegia v0.71 MYF5 Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.70 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Congenital ophthalmoplegia v0.70 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.70 DGUOK Zornitza Stark Classified gene: DGUOK as Green List (high evidence)
Congenital ophthalmoplegia v0.70 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.69 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Congenital ophthalmoplegia v0.69 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.69 RRM2B Zornitza Stark Classified gene: RRM2B as Green List (high evidence)
Congenital ophthalmoplegia v0.69 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.68 POLG2 Zornitza Stark Marked gene: POLG2 as ready
Congenital ophthalmoplegia v0.68 POLG2 Zornitza Stark Gene: polg2 has been classified as Green List (High Evidence).
Congenital ophthalmoplegia v0.68 POLG2 Zornitza Stark Publications for gene: POLG2 were set to PMID: 21555342; 16685652
Congenital ophthalmoplegia v0.67 POLG2 Zornitza Stark Classified gene: POLG2 as Green List (high evidence)
Congenital ophthalmoplegia v0.67 POLG2 Zornitza Stark Gene: polg2 has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Marked Region: ISCA-37421-Loss as ready
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Region: isca-37421-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Classified Region: ISCA-37421-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.85 ISCA-37421-Loss Zornitza Stark Region: isca-37421-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.84 ISCA-37421-Loss Zornitza Stark Region: ISCA-37421-Loss was added
Region: ISCA-37421-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37421-Loss.
Mode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37421-Loss were set to 32655619
Phenotypes for Region: ISCA-37421-Loss were set to Chromosome 1q21.1 deletion syndrome, MIM# 612474; intellectual disability; microcephaly; congenital anomalies
Review for Region: ISCA-37421-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Marked Region: ISCA-37421-Gain as ready
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Region: isca-37421-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Classified Region: ISCA-37421-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.83 ISCA-37421-Gain Zornitza Stark Region: isca-37421-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.82 ISCA-37421-Gain Zornitza Stark Region: ISCA-37421-Gain was added
Region: ISCA-37421-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37421-Gain.
Mode of inheritance for Region: ISCA-37421-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37421-Gain were set to 32655619
Phenotypes for Region: ISCA-37421-Gain were set to Chromosome 1q21.1 duplication syndrome, MIM# 612475; intellectual disability; autism; macrocephaly
Review for Region: ISCA-37421-Gain was set to GREEN
Added comment: Well established CNV
Sources: Expert list
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Marked Region: ISCA-37420-Loss as ready
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Region: isca-37420-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Classified Region: ISCA-37420-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.81 ISCA-37420-Loss Zornitza Stark Region: isca-37420-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.80 ISCA-37420-Loss Zornitza Stark Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37420-Loss.
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37420-Loss were set to Koolen-De Vries syndrome, MIM# 610443; intellectual disability; hypotonia; dysmorphic features
Review for Region: ISCA-37420-Loss was set to GREEN
Added comment: Well established CNV, features of KDVS due to KANSL1 deletion.
Sources: Expert list
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Marked Region: ISCA_37418-Loss as ready
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Region: isca_37418-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Classified Region: ISCA_37418-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.79 ISCA_37418-Loss Zornitza Stark Region: isca_37418-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.78 ISCA_37418-Loss Zornitza Stark Region: ISCA_37418-Loss was added
Region: ISCA_37418-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA_37418-Loss.
Mode of inheritance for Region: ISCA_37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA_37418-Loss were set to Smith-Magenis syndrome, MIM# 182290; intellectual disability; dysmorphic features; behavioural issues
Review for Region: ISCA_37418-Loss was set to GREEN
Added comment: Well established CNV, features of SMS due to RAI1 deletion.
Sources: Expert list
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Marked Region: ISCA-37418-Gain as ready
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Region: isca-37418-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Classified Region: ISCA-37418-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.77 ISCA-37418-Gain Zornitza Stark Region: isca-37418-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.76 ISCA-37418-Gain Zornitza Stark Region: ISCA-37418-Gain was added
Region: ISCA-37418-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM# 610883; intellectual disability; hypotonia; congenital anomalies
Review for Region: ISCA-37418-Gain was set to GREEN
Added comment: Well established CNV. Reciprocal duplication of the 17p11.2 deletion causing Smith-Magenis syndrome.
Sources: Expert list
Mitochondrial disease v0.559 TARS2 Zornitza Stark Publications for gene: TARS2 were set to 24827421; 26811336
Mendeliome v0.5504 TARS2 Zornitza Stark Publications for gene: TARS2 were set to 24827421; 26811336
Mendeliome v0.5503 TARS2 Zornitza Stark edited their review of gene: TARS2: Added comment: Second family reported, single affected individual, compound heterozygous missense variants, computational data only in support of pathogenicity.; Changed publications: 24827421, 26811336, 33153448
Mitochondrial disease v0.558 TARS2 Zornitza Stark edited their review of gene: TARS2: Added comment: Second family reported, single affected individual, compound het missense variants, computational data only in support of pathogenicity.; Changed publications: 24827421, 26811336, 33153448
Diabetes Insipidus v0.6 AVP Bryony Thompson Marked gene: AVP as ready
Diabetes Insipidus v0.6 AVP Bryony Thompson Gene: avp has been classified as Green List (High Evidence).
Diabetes Insipidus v0.6 AVP Bryony Thompson Classified gene: AVP as Green List (high evidence)
Diabetes Insipidus v0.6 AVP Bryony Thompson Gene: avp has been classified as Green List (High Evidence).
Diabetes Insipidus v0.5 AVP Bryony Thompson gene: AVP was added
gene: AVP was added to Diabetes Insipidus. Sources: Expert list
Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AVP were set to 6526016; 1840604; 8554046
Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal MIM#125700
Review for gene: AVP was set to GREEN
gene: AVP was marked as current diagnostic
Added comment: Well-established cause of neurohypophyseal diabetes insipidus, and supporting rat model.
Sources: Expert list
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Marked gene: AQP2 as ready
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Gene: aqp2 has been classified as Green List (High Evidence).
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Classified gene: AQP2 as Green List (high evidence)
Diabetes Insipidus v0.4 AQP2 Bryony Thompson Gene: aqp2 has been classified as Green List (High Evidence).
Diabetes Insipidus v0.3 AQP2 Bryony Thompson gene: AQP2 was added
gene: AQP2 was added to Diabetes Insipidus. Sources: Expert list
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AQP2 were set to 7524315; 20301356; 27156763; 9649557
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic MIM#125800
Review for gene: AQP2 was set to GREEN
gene: AQP2 was marked as current diagnostic
Added comment: Well-established cause of nephrogenic diabetes insipidus. Loss of function is the mechanism of disease for the recessive form, while the dominantly inherited form is caused by pathogenic variants with a dominant negative effect.
Sources: Expert list
Diabetes Insipidus v0.2 AVPR2 Bryony Thompson Classified gene: AVPR2 as Green List (high evidence)
Diabetes Insipidus v0.2 AVPR2 Bryony Thompson Gene: avpr2 has been classified as Green List (High Evidence).
Diabetes Insipidus v0.1 AVPR2 Bryony Thompson gene: AVPR2 was added
gene: AVPR2 was added to Diabetes Insipidus. Sources: Expert list
SV/CNV tags were added to gene: AVPR2.
Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AVPR2 were set to 1356229; 20301356; 27156763
Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic MIM#304800
Review for gene: AVPR2 was set to GREEN
gene: AVPR2 was marked as current diagnostic
Added comment: Well-established cause of nephrogenic diabetes insipidus (most common cause). ~10% of disease-causing variants are large deletions. females are unlikely to be affected, but heterozygous females can exhibit variable degrees of polyuria and polydipsia because of skewed X chromosome inactivation
Sources: Expert list
Congenital ophthalmoplegia v0.66 POLG2 Shannon LeBlanc gene: POLG2 was added
gene: POLG2 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLG2 were set to PMID: 21555342; 16685652
Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type) - 618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 - 610131
Review for gene: POLG2 was set to GREEN
Added comment: PEOA4 - age of onset range from infancy to adulthood.
Sources: Literature
Diabetes Insipidus v0.0 Bryony Thompson Added Panel Diabetes Insipidus
Set panel types to: Royal Melbourne Hospital; Rare Disease
Congenital ophthalmoplegia v0.66 RRM2B Shannon LeBlanc gene: RRM2B was added
gene: RRM2B was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to PMID: 17486094; 19138848; 24741716; 31462754
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
Review for gene: RRM2B was set to GREEN
Added comment: Neonatal onset. Ophthalmoplegia and ptosis are common features.
Sources: Literature
Congenital ophthalmoplegia v0.66 DGUOK Shannon LeBlanc gene: DGUOK was added
gene: DGUOK was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to PMID: 11687800; 12205643; 15887277
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM 617070; portal hypertension, non cirrhotic OMIM 617068
Review for gene: DGUOK was set to GREEN
Added comment: Mitochondrial DNA depletion syndrome-3: onset in infancy, progressive external ophthalmoplegia is a feature.
Sources: Literature
Congenital ophthalmoplegia v0.66 MYF5 Shannon LeBlanc gene: MYF5 was added
gene: MYF5 was added to Congenital ophthalmoplegia. Sources: Literature
Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYF5 were set to PMID: 29887215
Phenotypes for gene: MYF5 were set to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM 61855
Review for gene: MYF5 was set to GREEN
Added comment: congenital non-progressive external ophthalmoplegia and ptosis. Other features include hypoplastic or missing ribs with fusion anomalies. Torticollis and scoliosis develops during childhood.

PMID 29887215: three unrelated consanguineous families with homozygous LOF mutations: Two Turkish families with a homozygous 10bp deletion (frameshift), predicted to undergo NMD. Two sisters from a Yemeni family with a homozygous missense variant in exon 1 - in vitro assays showed LOF for the missense variant.

The clinical phenotype overlaps strikingly with several MYF5 knockout mouse models. (PMID: 15386014, 1423602, 9268580, 8918877).
Sources: Literature
Common deletion and duplication syndromes v0.75 ISCA-37441-Loss Elena Savva Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to PMID: 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome MIM#601224
Review for Region: ISCA-37441-Loss was set to GREEN
Added comment: Established CNV

Craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37440-Loss Elena Savva Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250
Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome
Review for Region: ISCA-37440-Loss was set to GREEN
Added comment: Established CNV

Includes the deletion of SLC3A1, PREPL, C2orf34 and PPM1B

Hypotonia-cystinuria syndrome is the deletion of only SLC3A1 and PREPL
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37439-Gain Elena Savva Region: ISCA-37439-Gain was added
Region: ISCA-37439-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37439-Gain 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 Region: ISCA-37439-Gain were set to PMID: 20004760
Phenotypes for Region: ISCA-37439-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815
Review for Region: ISCA-37439-Gain was set to GREEN
Added comment: Established CNV

3 mothers, who were more mildly affected with learning difficulties, also carried the duplication with non-random X inactivation.

Causes mental retardation, both syndromic and non syndromic
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37436-Loss Elena Savva Region: ISCA-37436-Loss was added
Region: ISCA-37436-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Loss were set to PMID: 32356557; 31118906; 24726093
Phenotypes for Region: ISCA-37436-Loss were set to Hereditary neuropathy with liability to pressure palsies
Review for Region: ISCA-37436-Loss was set to GREEN
Added comment: Established CNV

Deletion of PMP22 the main cause of disease, which may include psychiatric conditions

Thickening of the myelin sheath, called “tomacula”, is considered the hallmark of the disease
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37436-Gain Elena Savva Region: ISCA-37436-Gain was added
Region: ISCA-37436-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Gain were set to PMID: 32648354
Phenotypes for Region: ISCA-37436-Gain were set to Charcot-Marie-Tooth disease type 1A
Review for Region: ISCA-37436-Gain was set to GREEN
Added comment: It is suspected that de novo CMT1A cases tend to exhibit relatively mild symptoms compared to non‐de novo cases
Sources: Expert list
Common deletion and duplication syndromes v0.75 ISCA-37486-Loss Zornitza Stark Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Common deletion and duplication syndromes v0.74 ISCA-37486-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37486-Loss.
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37446-Loss.
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Marked Region: ISCA-37446-Loss as ready
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.74 ISCA-37446-Loss Zornitza Stark Phenotypes for Region: ISCA-37446-Loss were changed from Chromosome 22q11.2 deletion syndrome, distal MIM#611867 to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Common deletion and duplication syndromes v0.73 ISCA-37446-Loss Zornitza Stark Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049
Common deletion and duplication syndromes v0.72 ISCA-37446-Loss Zornitza Stark Classified Region: ISCA-37446-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.72 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.71 ISCA-37446-Loss Zornitza Stark reviewed Region: ISCA-37446-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671380; Phenotypes: Chromosome 22q11.2 deletion syndrome, distal MIM#611867, intellectual disability, autism, multiple congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.71 ISCA-37446-Gain Elena Savva Region: ISCA-37446-Gain was added
Region: ISCA-37446-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37446-Gain were set to PMID: 18707033
Phenotypes for Region: ISCA-37446-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363
Review for Region: ISCA-37446-Gain was set to GREEN
Added comment: Established CNV

Extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects.

Both de novo and familial reports
Sources: Expert list
Common deletion and duplication syndromes v0.71 ISCA-37443-Loss Elena Savva Region: ISCA-37443-Loss was added
Region: ISCA-37443-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37443-Loss were set to PMID: 20830797; 19460468; 19610115
Phenotypes for Region: ISCA-37443-Loss were set to Chromosome 3q29 microdeletion syndrome MIM#609425
Review for Region: ISCA-37443-Loss was set to GREEN
Added comment: Established CNV

Patients have intellectual disabilities, a history of autism and psychiatric symptoms.

The region of overlap encompasses 20 RefSeq genes, including FBX045, DLG1, and PAK2.

Both familial and de novo reports
Sources: Expert list
Common deletion and duplication syndromes v0.71 ISCA-37486-Loss Zornitza Stark Marked Region: ISCA-37486-Loss as ready
Common deletion and duplication syndromes v0.71 ISCA-37486-Loss Zornitza Stark Region: isca-37486-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.71 ISCA-37486-Loss Zornitza Stark Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913 to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Common deletion and duplication syndromes v0.70 ISCA-37486-Loss Zornitza Stark Publications for Region: ISCA-37486-Loss were set to PMID: 19914906
Common deletion and duplication syndromes v0.69 ISCA-37486-Loss Zornitza Stark Classified Region: ISCA-37486-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.69 ISCA-37486-Loss Zornitza Stark Region: isca-37486-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.68 ISCA-37486-Loss Zornitza Stark reviewed Region: ISCA-37486-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 32993859, 32732550, 32597026, 32537635; Phenotypes: Chromosome 16p11.2 deletion syndrome MIM#611913, distal BP2-BP3, intellectual disability, autism, obesity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.68 ISCA-37446-Loss Elena Savva Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867
Review for Region: ISCA-37446-Loss was set to GREEN
Added comment: Established CNV

Usually de novo
All patients presented with characteristic facial dysmorphic features. A history of prematurity, prenatal and postnatal growth delay, developmental delay, and mild skeletal abnormalities was prevalent among the patients. Two patients were found to have a cardiovascular malformation, one had truncus arteriosus, and another had a bicuspid aortic valve.
Sources: Expert list
Common deletion and duplication syndromes v0.68 ISCA-37493-Loss Zornitza Stark Marked Region: ISCA-37493-Loss as ready
Common deletion and duplication syndromes v0.68 ISCA-37493-Loss Zornitza Stark Region: isca-37493-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.68 ISCA-37493-Loss Zornitza Stark Phenotypes for Region: ISCA-37493-Loss were changed from 1q43q44 microdeletion syndrome to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Common deletion and duplication syndromes v0.67 ISCA-37493-Loss Zornitza Stark Publications for Region: ISCA-37493-Loss were set to PMID: 28283832
Common deletion and duplication syndromes v0.66 ISCA-37493-Loss Zornitza Stark Classified Region: ISCA-37493-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.66 ISCA-37493-Loss Zornitza Stark Region: isca-37493-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.65 ISCA-37493-Loss Zornitza Stark reviewed Region: ISCA-37493-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 31929334, 31830750, 30853971; Phenotypes: 1q43q44 microdeletion syndrome, intellectual disability, seizures, microcephaly, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.65 ISCA-37494-Gain Zornitza Stark Marked Region: ISCA-37494-Gain as ready
Common deletion and duplication syndromes v0.65 ISCA-37494-Gain Zornitza Stark Region: isca-37494-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.65 ISCA-37494-Gain Zornitza Stark Phenotypes for Region: ISCA-37494-Gain were changed from Chromosome Xq28 duplication syndrome MIM#300815 to Chromosome Xq28 duplication syndrome MIM#300815; intellectual disability; hypotonia; seizures; spasticity; recurrent respiratory infections
Common deletion and duplication syndromes v0.64 ISCA-37494-Gain Zornitza Stark Publications for Region: ISCA-37494-Gain were set to PMID: 25927380
Common deletion and duplication syndromes v0.63 ISCA-37494-Gain Zornitza Stark Classified Region: ISCA-37494-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.63 ISCA-37494-Gain Zornitza Stark Region: isca-37494-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.62 ISCA-37494-Gain Zornitza Stark reviewed Region: ISCA-37494-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301461, 32043567, 32112660; Phenotypes: Chromosome Xq28 duplication syndrome MIM#300815, intellectual disability, hypotonia, seizures, spasticity, recurrent respiratory infections; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Common deletion and duplication syndromes v0.62 ISCA-37500-Loss Zornitza Stark Marked Region: ISCA-37500-Loss as ready
Common deletion and duplication syndromes v0.62 ISCA-37500-Loss Zornitza Stark Region: isca-37500-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.62 ISCA-37500-Loss Zornitza Stark Phenotypes for Region: ISCA-37500-Loss were changed from Chromosome 15q25 deletion syndrome MIM#614294 to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities
Common deletion and duplication syndromes v0.61 ISCA-37500-Loss Zornitza Stark Publications for Region: ISCA-37500-Loss were set to PMID: 20921022
Common deletion and duplication syndromes v0.60 ISCA-37500-Loss Zornitza Stark Classified Region: ISCA-37500-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.60 ISCA-37500-Loss Zornitza Stark Region: isca-37500-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.59 ISCA-37500-Loss Zornitza Stark reviewed Region: ISCA-37500-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 24352913; Phenotypes: Chromosome 15q25 deletion syndrome MIM#614294, intellectual disability, congenital abnormalities, haematological abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.59 ISCA-37501-Loss Zornitza Stark Marked Region: ISCA-37501-Loss as ready
Common deletion and duplication syndromes v0.59 ISCA-37501-Loss Zornitza Stark Region: isca-37501-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.59 ISCA-37501-Loss Zornitza Stark Phenotypes for Region: ISCA-37501-Loss were changed from Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355 to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355; intellectual disability; microcephaly; congenital anomalies; pulmonary hypertension
Common deletion and duplication syndromes v0.58 ISCA-37501-Loss Zornitza Stark Publications for Region: ISCA-37501-Loss were set to PMID: 20206336
Common deletion and duplication syndromes v0.57 ISCA-37501-Loss Zornitza Stark Classified Region: ISCA-37501-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.57 ISCA-37501-Loss Zornitza Stark Region: isca-37501-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.56 ISCA-37501-Loss Zornitza Stark reviewed Region: ISCA-37501-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 31151956, 30639323; Phenotypes: Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355, intellectual disability, microcephaly, congenital anomalies, pulmonary hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common deletion and duplication syndromes v0.56 ISCA-46290-Gain Zornitza Stark Marked Region: ISCA-46290-Gain as ready
Common deletion and duplication syndromes v0.56 ISCA-46290-Gain Zornitza Stark Region: isca-46290-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.56 ISCA-46290-Gain Zornitza Stark Phenotypes for Region: ISCA-46290-Gain were changed from Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801 to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures
Common deletion and duplication syndromes v0.55 ISCA-46290-Gain Zornitza Stark Publications for Region: ISCA-46290-Gain were set to PMID: 19716111
Common deletion and duplication syndromes v0.54 ISCA-46290-Gain Zornitza Stark Classified Region: ISCA-46290-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.54 ISCA-46290-Gain Zornitza Stark Region: isca-46290-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.53 ISCA-46290-Gain Zornitza Stark reviewed Region: ISCA-46290-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: 27605428, 29707408, 16900295; Phenotypes: Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801, intellectual disability, seizures; Mode of inheritance: None
Common deletion and duplication syndromes v0.53 ISCA-46295-Loss Zornitza Stark Marked Region: ISCA-46295-Loss as ready
Common deletion and duplication syndromes v0.53 ISCA-46295-Loss Zornitza Stark Region: isca-46295-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.53 ISCA-46295-Loss Zornitza Stark Phenotypes for Region: ISCA-46295-Loss were changed from Chromosome 15q13.3 microdeletion syndrome MIM#612001 to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures
Common deletion and duplication syndromes v0.52 ISCA-46295-Loss Zornitza Stark Mode of inheritance for Region: ISCA-46295-Loss was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Common deletion and duplication syndromes v0.51 ISCA-46295-Loss Zornitza Stark Classified Region: ISCA-46295-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.51 ISCA-46295-Loss Zornitza Stark Region: isca-46295-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.50 ISCA-46295-Loss Zornitza Stark reviewed Region: ISCA-46295-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 15q13.3 microdeletion syndrome MIM#612001, intellectual disability, seizures; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Marked Region: ISCA-37478-Loss as ready
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Region: isca-37478-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Classified Region: ISCA-37478-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.50 ISCA-37478-Loss Zornitza Stark Region: isca-37478-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.49 ISCA-37478-Loss Zornitza Stark Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37478-Loss.
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295
Phenotypes for Region: ISCA-37478-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Review for Region: ISCA-37478-Loss was set to GREEN
Added comment: Well established CNV. Deletion classes The deletion classes are subdivided into Type 1 and Type 2 based on their proximal breakpoints (BP1-BP3 and BP2-BP3, respectively).
Sources: Expert list
Common deletion and duplication syndromes v0.48 Zornitza Stark removed region:ISCA-37478-Loss from the panel
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark commented on Region: ISCA-37468-Loss: Contiguous gene deletion syndrome, RP2 responsible for retinal dystrophy. ID not observed in individuals with deletions involving RP2 and ZNF630, arguing against involvement of ZNF630 in the ID component observed with larger deletions.
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark Marked Region: ISCA-37468-Loss as ready
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark Region: isca-37468-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.47 ISCA-37468-Loss Zornitza Stark Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578 to Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy
Common deletion and duplication syndromes v0.46 ISCA-37468-Loss Zornitza Stark Classified Region: ISCA-37468-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.46 ISCA-37468-Loss Zornitza Stark Region: isca-37468-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.45 ISCA-37468-Loss Zornitza Stark reviewed Region: ISCA-37468-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome Xp11.3 deletion syndrome MIM#300578, intellectual disability, retinal dystrophy; Mode of inheritance: None
Common deletion and duplication syndromes v0.45 ISCA-37468-Loss Elena Savva Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37468-Loss 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 Region: ISCA-37468-Loss were set to PMID: 22126752; 16385466; 20186789
Phenotypes for Region: ISCA-37468-Loss were set to Chromosome Xp11.3 deletion syndrome MIM#300578
Review for Region: ISCA-37468-Loss was set to GREEN
Added comment: Established CNV

One-third of XL retinal dystrophies are accounted for by RP2 mutations at the Xp11.23 locus.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37500-Loss Elena Savva commented on Region: ISCA-37500-Loss: Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects.

Contains an imprinted region
Common deletion and duplication syndromes v0.45 ISCA-37486-Loss Elena Savva Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37486-Loss were set to PMID: 19914906
Phenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913
Review for Region: ISCA-37486-Loss was set to GREEN
Added comment: Established CNV

The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures ( approximately 40%), behavioural problems ( approximately 40%), congenital anomalies ( approximately 30%), and autism ( approximately 20%)

One subject with the deletion was asymptomatic
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37493-Loss Elena Savva Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37493-Loss were set to PMID: 28283832
Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome
Review for Region: ISCA-37493-Loss was set to GREEN
Added comment: Established CNV

AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37494-Gain Elena Savva Region: ISCA-37494-Gain was added
Region: ISCA-37494-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37494-Gain 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 Region: ISCA-37494-Gain were set to PMID: 25927380
Phenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815
Review for Region: ISCA-37494-Gain was set to GREEN
Added comment: Established CNV

This syndrome has recently been described in 9 males with cognitive impairment, behavioral problems, and distinctive facial features; and 6 females with milder phenotypes.

Prenatally diagnosed de novo int22h1/int22h2-mediated deletion in a healthy female infant.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37500-Loss Elena Savva Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37500-Loss were set to PMID: 20921022
Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294
Review for Region: ISCA-37500-Loss was set to GREEN
Added comment: Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37501-Loss Elena Savva Region: ISCA-37501-Loss was added
Region: ISCA-37501-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37501-Loss were set to PMID: 20206336
Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355
Review for Region: ISCA-37501-Loss was set to GREEN
Added comment: These individuals have common features, including mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, and hand, foot, and limb abnormalities.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-46290-Gain Elena Savva Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to PMID: 19716111
Phenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801
Review for Region: ISCA-46290-Gain was set to GREEN
Added comment: Males and females affected - Most affected females show preferential activation of the duplicated X chromosome.
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-46295-Loss Elena Savva Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-46295-Loss were set to PMID: 19289393
Phenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001
Review for Region: ISCA-46295-Loss was set to GREEN
Added comment: Well established CNV

PMID: 19289393: incomplete penetrance well reported for autism, mental retardation, and psychiatric disorders

Specific genes implicated in the phenotype include CHRNA7 (118511) and OTUD7A (612024)
Sources: Expert list
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Marked Region: ISCA-37415-Loss as ready
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Region: isca-37415-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Classified Region: ISCA-37415-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.45 ISCA-37415-Loss Zornitza Stark Region: isca-37415-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.44 ISCA-37415-Loss Zornitza Stark Region: ISCA-37415-Loss was added
Region: ISCA-37415-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37415-Loss.
Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37415-Loss were set to 24105370; 23637818; 22523559
Phenotypes for Region: ISCA-37415-Loss were set to 16p13.11 microdeletion syndrome; intellectual disability; autism; epilepsy
Review for Region: ISCA-37415-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Marked Region: ISCA-37415-Gain as ready
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Region: isca-37415-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Classified Region: ISCA-37415-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Region: isca-37415-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.42 ISCA-37415-Gain Zornitza Stark Region: ISCA-37415-Gain was added
Region: ISCA-37415-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37415-Gain.
Mode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37415-Gain were set to 30287593
Phenotypes for Region: ISCA-37415-Gain were set to 16p13.11 microduplication syndrome; intellectual disability; autism; aortopathy
Review for Region: ISCA-37415-Gain was set to GREEN
Added comment: 16p13.11 are associated with DD/ID/autism. Duplication contains MYH11, and there is also evidence of association with aortopathy.
Sources: Expert list
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Marked Region: ISCA-37411-Loss as ready
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Region: isca-37411-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Classified Region: ISCA-37411-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.41 ISCA-37411-Loss Zornitza Stark Region: isca-37411-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.40 ISCA-37411-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37411-Loss.
Common deletion and duplication syndromes v0.40 ISCA-37411-Loss Zornitza Stark Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for Region: ISCA-37411-Loss were set to 19372089; 20979196
Phenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM# 612001; intellectual disability; epilepsy
Review for Region: ISCA-37411-Loss was set to GREEN
Added comment: Well established CNV, variable penetrance and expressivity. Individuals with homozygous deletions have neurodevelopmental problems, hypotonia, epileptic encephalopathy.
Sources: Expert list
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Marked Region: ISCA-37408-Loss as ready
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Region: isca-37408-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Classified Region: ISCA-37408-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.39 ISCA-37408-Loss Zornitza Stark Region: isca-37408-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.38 ISCA-37408-Loss Zornitza Stark Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37408-Loss.
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37408-Loss were set to 25938782; 16963482
Phenotypes for Region: ISCA-37408-Loss were set to Chromosome 2p16.1-p15 deletion syndrome 612513; intellectual disability; autism; microcephaly; dysmorphic features
Review for Region: ISCA-37408-Loss was set to GREEN
Added comment: Well established recurrent CNV, deletions are characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. Many patients have behavioral disorders, including autistic features, as well as structural brain abnormalities, such as pachygyria or hypoplastic corpus callosum. Those with deletions including the BCL11A gene also have persistence of fetal hemoglobin (HbF), which is asymptomatic.
Sources: Expert list
Incidentalome_PREGEN_DRAFT v0.3 Zornitza Stark Panel types changed to New South Wales Health Pathology
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Marked Region: ISCA-37406-Loss as ready
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Region: isca-37406-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37406-Loss.
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Classified Region: ISCA-37406-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.37 ISCA-37406-Loss Zornitza Stark Region: isca-37406-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.36 ISCA-37406-Loss Zornitza Stark Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
Review for Region: ISCA-37406-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Marked Region: ISCA-37405-Loss as ready
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Classified Region: ISCA-37405-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.35 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.34 ISCA-37405-Loss Zornitza Stark Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37405-Loss.
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 29146700
Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Review for Region: ISCA-37405-Loss was set to GREEN
Added comment: NPHP1 deletions are frequent, and can either be homozygous or compound heterozygous with SNVs, and result in a range of ciliopathies.
Sources: Expert list
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark changed review comment from: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal alleles are deleted.
Sources: Expert list; to: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal allele is deleted.
Sources: Expert list
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark edited their review of Region: ISCA-37404-Loss: Changed phenotypes: Angelman syndrome, MIM# 105830, Prader-Willi syndrome, MIM# 176270
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Marked Region: ISCA-37404-Loss as ready
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Region: isca-37404-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37404-Loss.
Common deletion and duplication syndromes v0.33 ISCA-37404-Loss Zornitza Stark Phenotypes for Region: ISCA-37404-Loss were changed from Angelman syndrome, MIM# 105830 to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Common deletion and duplication syndromes v0.32 ISCA-37404-Loss Zornitza Stark Classified Region: ISCA-37404-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.32 ISCA-37404-Loss Zornitza Stark Region: isca-37404-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.31 ISCA-37404-Loss Zornitza Stark Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 20301323; 20301505
Phenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM# 105830
Review for Region: ISCA-37404-Loss was set to GREEN
Added comment: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal alleles are deleted.
Sources: Expert list
Incidentalome_PREGEN_DRAFT v0.2 Seb Lunke Panel name changed from Incidentalome_NSW to Incidentalome_PREGEN_DRAFT
Panel status changed from internal to public
Panel types changed to
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Marked Region: ISCA-37404-Gain as ready
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Region: isca-37404-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Classified Region: ISCA-37404-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.30 ISCA-37404-Gain Zornitza Stark Region: isca-37404-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.29 ISCA-37404-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37404-Gain.
Common deletion and duplication syndromes v0.29 ISCA-37404-Gain Zornitza Stark Region: ISCA-37404-Gain was added
Region: ISCA-37404-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37404-Gain were set to 24239951; 24075935
Phenotypes for Region: ISCA-37404-Gain were set to Chromosome 15q11q13 duplication syndrome; {Autism susceptibility 4} 608636; intellectual disability; seizures; ataxia
Review for Region: ISCA-37404-Gain was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Skeletal Muscle Channelopathies v0.16 KCNJ18 Bryony Thompson gene: KCNJ18 was added
gene: KCNJ18 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ18 were set to 25882930; 27178871; 20074522; 27008341
Phenotypes for gene: KCNJ18 were set to Hypokalemic periodic paralysis; {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239
Review for gene: KCNJ18 was set to RED
Added comment: Single case reported with hypokalemic periodic paralysis without hyperthyroidism with G169R. Unsure, if this variant is specific to KCNJ18 due to high homology with KCNJ12 in this region.
Sources: Expert list
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-46299-Gain.
Common deletion and duplication syndromes v0.28 ISCA-37401-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37401-Loss.
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Marked Region: ISCA-46299-Gain as ready
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Region: isca-46299-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Classified Region: ISCA-46299-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.28 ISCA-46299-Gain Zornitza Stark Region: isca-46299-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.27 ISCA-46299-Gain Elena Savva Region: ISCA-46299-Gain was added
Region: ISCA-46299-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-46299-Gain 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 Region: ISCA-46299-Gain were set to PMID: 22840365
Phenotypes for Region: ISCA-46299-Gain were set to Xp11.22 microduplication syndrome MIM#300705
Review for Region: ISCA-46299-Gain was set to GREEN
Added comment: Well known CNV
Sources: Expert list
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Marked Region: ISCA-37401-Loss as ready
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Region: isca-37401-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Classified Region: ISCA-37401-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.27 ISCA-37401-Loss Zornitza Stark Region: isca-37401-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.26 ISCA-37401-Loss Zornitza Stark Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, MIM# 194072
Review for Region: ISCA-37401-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list
Skeletal Muscle Channelopathies v0.15 KCNE3 Bryony Thompson Marked gene: KCNE3 as ready
Skeletal Muscle Channelopathies v0.15 KCNE3 Bryony Thompson Gene: kcne3 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.15 KCNE3 Bryony Thompson gene: KCNE3 was added
gene: KCNE3 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNE3 were set to 14504341; 11207363; 16449802; 15037716; 20051516; 28356343
Phenotypes for gene: KCNE3 were set to Periodic paralysis
Review for gene: KCNE3 was set to RED
Added comment: The originally reported missense (R38H) that segregated with periodic paralysis in 2 families, is too common in gnomAD v2.1 for a variant associated with dominant disease (AF 0.003, 7 homozygotes). Kcne3(-/-) mice do not display periodic paralysis or other obvious skeletal muscle abnormalities.
Sources: Expert list
Mitochondrial disease v0.558 COX16 Bryony Thompson Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disease v0.558 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.557 COX16 Bryony Thompson Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disease v0.557 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.556 COX16 Bryony Thompson Marked gene: COX16 as ready
Mitochondrial disease v0.556 COX16 Bryony Thompson Gene: cox16 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.556 COX16 Bryony Thompson gene: COX16 was added
gene: COX16 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX16 were set to 33169484
Phenotypes for gene: COX16 were set to Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Review for gene: COX16 was set to AMBER
Added comment: 2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain.
Sources: Literature
Mendeliome v0.5503 COX16 Bryony Thompson Marked gene: COX16 as ready
Mendeliome v0.5503 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5503 COX16 Bryony Thompson Classified gene: COX16 as Amber List (moderate evidence)
Mendeliome v0.5503 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5502 COX16 Bryony Thompson gene: COX16 was added
gene: COX16 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX16 were set to 33169484
Phenotypes for gene: COX16 were set to Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Review for gene: COX16 was set to AMBER
Added comment: 2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain (RC)
Sources: Literature
Mendeliome v0.5501 THBD Bryony Thompson Classified gene: THBD as Green List (high evidence)
Mendeliome v0.5501 THBD Bryony Thompson Gene: thbd has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.206 THBD Bryony Thompson Publications for gene: THBD were set to 25564403; 32634856
Mendeliome v0.5500 THBD Bryony Thompson reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32634856, 25564403, 32935436, 25049278, 27436851, 28267383, 10627464; Phenotypes: Thrombomodulin‐associated coagulopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.205 THBD Bryony Thompson Classified gene: THBD as Green List (high evidence)
Bleeding and Platelet Disorders v0.205 THBD Bryony Thompson Gene: thbd has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.204 THBD Bryony Thompson reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32634856, 25564403, 32935436, 25049278, 27436851, 28267383, 10627464; Phenotypes: Thrombomodulin‐associated coagulopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5500 KCNJ18 Zornitza Stark Marked gene: KCNJ18 as ready
Mendeliome v0.5500 KCNJ18 Zornitza Stark Gene: kcnj18 has been classified as Red List (Low Evidence).
Mendeliome v0.5500 KCNJ18 Zornitza Stark gene: KCNJ18 was added
gene: KCNJ18 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ18 were set to 20074522; 27008341
Phenotypes for gene: KCNJ18 were set to {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239
Review for gene: KCNJ18 was set to RED
Added comment: Six variants reported in original publication, however note lack of segregation data and limited functional data. Subsequently, concerns raised about high nucleotide sequence homology between multiple potassium channel genes, with variant misattribution.
Sources: Expert Review
Muscular dystrophy and myopathy_Paediatric v0.79 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Muscular dystrophy and myopathy_Paediatric v0.79 DPM3 Zornitza Stark Gene: dpm3 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.79 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992
Muscular dystrophy and myopathy_Paediatric v0.78 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
Muscular dystrophy and myopathy_Paediatric v0.77 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.76 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31266720, 28803818, 19576565, 31266720, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5499 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Mendeliome v0.5499 DPM3 Zornitza Stark Gene: dpm3 has been classified as Green List (High Evidence).
Mendeliome v0.5499 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992
Mendeliome v0.5498 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
Mendeliome v0.5497 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5496 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31266720, 28803818, 19576565, 31266720, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.237 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Congenital Disorders of Glycosylation v0.237 DPM3 Zornitza Stark Gene: dpm3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.237 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992
Congenital Disorders of Glycosylation v0.236 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
Congenital Disorders of Glycosylation v0.235 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.234 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31266720, 28803818, 19576565, 31266720, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5496 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Mendeliome v0.5496 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Mendeliome v0.5496 B3GAT3 Zornitza Stark Phenotypes for gene: B3GAT3 were changed from to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600
Mendeliome v0.5495 B3GAT3 Zornitza Stark Publications for gene: B3GAT3 were set to
Mendeliome v0.5494 B3GAT3 Zornitza Stark Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5493 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26754439, 31988067, 26086840, 25893793, 21763480, 24668659; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.234 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Congenital Disorders of Glycosylation v0.234 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.234 B3GAT3 Zornitza Stark Phenotypes for gene: B3GAT3 were changed from to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600
Congenital Disorders of Glycosylation v0.233 B3GAT3 Zornitza Stark Publications for gene: B3GAT3 were set to
Congenital Disorders of Glycosylation v0.232 B3GAT3 Zornitza Stark Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.231 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26754439, 31988067, 26086840, 25893793, 21763480, 24668659; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5493 SLC10A7 Zornitza Stark Marked gene: SLC10A7 as ready
Mendeliome v0.5493 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Mendeliome v0.5493 SLC10A7 Zornitza Stark Phenotypes for gene: SLC10A7 were changed from to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363
Mendeliome v0.5492 SLC10A7 Zornitza Stark Publications for gene: SLC10A7 were set to
Mendeliome v0.5491 SLC10A7 Zornitza Stark Mode of inheritance for gene: SLC10A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5490 SLC10A7 Zornitza Stark reviewed gene: SLC10A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30082715, 29878199, 31191616; Phenotypes: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Marked gene: SLC10A7 as ready
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Classified gene: SLC10A7 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.230 SLC10A7 Zornitza Stark gene: SLC10A7 was added
gene: SLC10A7 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715; 29878199; 31191616
Phenotypes for gene: SLC10A7 were set to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363
Review for gene: SLC10A7 was set to GREEN
Added comment: More than 5 unrelated families reported with bi-allelic variants in this gene and skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. Gene product has a putative role in the biosynthesis and trafficking of glycoproteins and glycosaminoglycans (proteoglycans).
Sources: Expert list
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Classified gene: SLC9A7 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.228 SLC9A7 Zornitza Stark gene: SLC9A7 was added
gene: SLC9A7 was added to Congenital Disorders of Glycosylation. Sources: Expert list
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: Expert list
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Marked gene: VMA21 as ready
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Classified gene: VMA21 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.226 VMA21 Zornitza Stark gene: VMA21 was added
gene: VMA21 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: VMA21 were set to 27916343; 25809233; 23315026
Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy (MIM#310440)
Review for gene: VMA21 was set to GREEN
Added comment: More than 15 families reported. Note many of the variants are intronic. Gene product participates in the assembly of the V-ATPase.
Sources: Expert list
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Marked gene: PIGU as ready
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Classified gene: PIGU as Green List (high evidence)
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.224 PIGU Zornitza Stark gene: PIGU was added
gene: PIGU was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGU were set to 31353022
Phenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590
Review for gene: PIGU was set to GREEN
Added comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface.
Sources: Expert list
Congenital Disorders of Glycosylation v0.223 PIGP Zornitza Stark edited their review of gene: PIGP: Changed publications: 28334793, 31139695, 32042915
Congenital Disorders of Glycosylation v0.223 PIGP Zornitza Stark Publications for gene: PIGP were set to 31139695; 32042915
Genetic Epilepsy v0.934 PIGP Zornitza Stark Phenotypes for gene: PIGP were changed from Epileptic encephalopathy, early infantile, 55, MIM# 617599 to Developmental and epileptic encephalopathy 55, MIM# 617599
Genetic Epilepsy v0.933 PIGP Zornitza Stark edited their review of gene: PIGP: Changed phenotypes: Developmental and epileptic encephalopathy 55, MIM# 617599
Mendeliome v0.5490 PIGP Zornitza Stark Phenotypes for gene: PIGP were changed from Epileptic encephalopathy, early infantile, 55, MIM# 617599 to Developmental and epileptic encephalopathy 55, MIM# 617599
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Marked gene: PIGP as ready
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Gene: pigp has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Classified gene: PIGP as Green List (high evidence)
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Gene: pigp has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.221 PIGP Zornitza Stark gene: PIGP was added
gene: PIGP was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 31139695; 32042915
Phenotypes for gene: PIGP were set to Developmental and epileptic encephalopathy 55, MIM# 617599
Review for gene: PIGP was set to GREEN
Added comment: Seven individuals from three unrelated families reported. Severe disorder characterised by early-onset seizures, and intellectual disability.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3227 PIGK Zornitza Stark Marked gene: PIGK as ready
Intellectual disability syndromic and non-syndromic v0.3227 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3227 PIGK Zornitza Stark Phenotypes for gene: PIGK were changed from Intellectual disability; seizures; cerebellar atrophy to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Intellectual disability syndromic and non-syndromic v0.3226 PIGK Zornitza Stark edited their review of gene: PIGK: Changed phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Genetic Epilepsy v0.933 PIGK Zornitza Stark Phenotypes for gene: PIGK were changed from Intellectual disability; seizures; cerebellar atrophy to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Genetic Epilepsy v0.932 PIGK Zornitza Stark edited their review of gene: PIGK: Changed phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Mendeliome v0.5489 PIGK Zornitza Stark Phenotypes for gene: PIGK were changed from Intellectual disability; seizures; cerebellar atrophy to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Mendeliome v0.5488 PIGK Zornitza Stark edited their review of gene: PIGK: Changed phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Marked gene: PIGK as ready
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Classified gene: PIGK as Green List (high evidence)
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.219 PIGK Zornitza Stark gene: PIGK was added
gene: PIGK was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Review for gene: PIGK was set to GREEN
Added comment: 12 individuals from 9 unrelated families reported.
Sources: Expert list
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Marked gene: PIGH as ready
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.932 PIGH Zornitza Stark Marked gene: PIGH as ready
Genetic Epilepsy v0.932 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.932 PIGH Zornitza Stark Phenotypes for gene: PIGH were changed from to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010
Genetic Epilepsy v0.931 PIGH Zornitza Stark Publications for gene: PIGH were set to
Genetic Epilepsy v0.930 PIGH Zornitza Stark Mode of inheritance for gene: PIGH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.929 PIGH Zornitza Stark reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573052, 29603516, 33156547; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.499 PIGH Zornitza Stark Classified gene: PIGH as Green List (high evidence)
Microcephaly v0.499 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Microcephaly v0.498 PIGH Zornitza Stark edited their review of gene: PIGH: Added comment: Three further families reported, including two sibs with microcephaly.; Changed rating: GREEN; Changed publications: 29573052, 33156547, 29603516
Mendeliome v0.5488 PIGH Zornitza Stark Publications for gene: PIGH were set to 29573052; 29603516
Mendeliome v0.5487 PIGH Zornitza Stark edited their review of gene: PIGH: Added comment: Further three families reported.

Common clinical features include developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies.; Changed publications: 29573052, 29603516, 33156547
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Classified gene: PIGH as Green List (high evidence)
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.217 PIGH Zornitza Stark gene: PIGH was added
gene: PIGH was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 33156547; 29573052; 29603516
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010
Review for gene: PIGH was set to GREEN
Added comment: Six unrelated families reported, common clinical features include developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.3226 PIGB Zornitza Stark Phenotypes for gene: PIGB were changed from Epileptic encephalopathy, early infantile, 80; OMIM #618580 to Developmental and epileptic encephalopathy 80, MIM# 618580
Intellectual disability syndromic and non-syndromic v0.3225 PIGB Zornitza Stark reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 80, MIM# 618580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5487 PIGB Zornitza Stark Phenotypes for gene: PIGB were changed from Epileptic encephalopathy, early infantile, 80; OMIM #618580 to Developmental and epileptic encephalopathy 80, MIM# 618580
Mendeliome v0.5486 PIGB Zornitza Stark edited their review of gene: PIGB: Changed phenotypes: Developmental and epileptic encephalopathy 80, MIM# 618580
Genetic Epilepsy v0.929 PIGB Zornitza Stark Phenotypes for gene: PIGB were changed from Epileptic encephalopathy, early infantile, 80; OMIM #618580 to Developmental and epileptic encephalopathy 80, MIM# 618580
Genetic Epilepsy v0.928 PIGB Zornitza Stark edited their review of gene: PIGB: Changed phenotypes: Developmental and epileptic encephalopathy 80, MIM# 618580
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Marked gene: PIGB as ready
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Classified gene: PIGB as Green List (high evidence)
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.215 PIGB Zornitza Stark gene: PIGB was added
gene: PIGB was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Developmental and epileptic encephalopathy 80 618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Expert list
Genetic Epilepsy v0.928 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Genetic Epilepsy v0.928 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.928 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Genetic Epilepsy v0.927 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to
Genetic Epilepsy v0.926 GPAA1 Zornitza Stark Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.925 GPAA1 Zornitza Stark reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100095; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3225 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Intellectual disability syndromic and non-syndromic v0.3225 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3225 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Intellectual disability syndromic and non-syndromic v0.3224 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to
Intellectual disability syndromic and non-syndromic v0.3223 GPAA1 Zornitza Stark Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3222 GPAA1 Zornitza Stark reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100095; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5486 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Mendeliome v0.5486 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Mendeliome v0.5486 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from to Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810
Mendeliome v0.5485 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to
Mendeliome v0.5484 GPAA1 Zornitza Stark Mode of inheritance for gene: GPAA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5483 GPAA1 Zornitza Stark Deleted their comment
Mendeliome v0.5483 GPAA1 Zornitza Stark edited their review of gene: GPAA1: Added comment: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.; Changed publications: 29100095
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Classified gene: GPAA1 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.213 GPAA1 Zornitza Stark gene: GPAA1 was added
gene: GPAA1 was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPAA1 were set to 29100095
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Review for gene: GPAA1 was set to GREEN
Added comment: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
Sources: Expert Review
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Marked Region: ISCA-37400-Loss as ready
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Classified Region: ISCA-37400-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.24 ISCA-37400-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37400-Loss.
Common deletion and duplication syndromes v0.24 ISCA-37400-Loss Zornitza Stark Region: ISCA-37400-Loss was added
Region: ISCA-37400-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913; autism; intellectual disability; seizures
Review for Region: ISCA-37400-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37400-Gain.
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Marked Region: ISCA-37400-Gain as ready
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Region: isca-37400-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Classified Region: ISCA-37400-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.23 ISCA-37400-Gain Zornitza Stark Region: isca-37400-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.22 ISCA-37400-Gain Zornitza Stark Region: ISCA-37400-Gain was added
Region: ISCA-37400-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37400-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37400-Gain were set to 21841781; 18184952; 21731881
Phenotypes for Region: ISCA-37400-Gain were set to Chromosome 16p11.2 duplication syndrome, MIM# 614671; intellectual disability; autism
Review for Region: ISCA-37400-Gain was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Marked Region: ISCA-37397-Loss as ready
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Region: isca-37397-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Classified Region: ISCA-37397-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.21 ISCA-37397-Loss Zornitza Stark Region: isca-37397-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.20 ISCA-37397-Loss Zornitza Stark changed review comment from: Well established recurrent CNV, distinct from the proximal 22.q11.2 deletion causing VCFS/DiGeorge syndrome.
Sources: Expert list; to: Well established recurrent CNV, distinct from the proximal 22q11.2 deletion causing VCFS/DiGeorge syndrome.
Sources: Expert list
Common deletion and duplication syndromes v0.20 ISCA-37397-Loss Zornitza Stark Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37397-Loss.
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902
Phenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies
Review for Region: ISCA-37397-Loss was set to GREEN
Added comment: Well established recurrent CNV, distinct from the proximal 22.q11.2 deletion causing VCFS/DiGeorge syndrome.
Sources: Expert list
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Marked Region: ISCA-37397-Gain as ready
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Region: isca-37397-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Classified Region: ISCA-37397-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.19 ISCA-37397-Gain Zornitza Stark Region: isca-37397-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.18 ISCA-37397-Gain Zornitza Stark Region: ISCA-37397-Gain was added
Region: ISCA-37397-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37397-Gain.
Mode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37397-Gain were set to 21671380; 31479204
Phenotypes for Region: ISCA-37397-Gain were set to Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal; intellectual disability; dysmorphic features; congenital anomalies
Review for Region: ISCA-37397-Gain was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.17 ISCA-37394-Loss Zornitza Stark Phenotypes for Region: ISCA-37394-Loss were changed from Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly, intellectual disability to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly; intellectual disability
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Marked Region: ISCA-37396-Loss as ready
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Region: isca-37396-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Classified Region: ISCA-37396-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.16 ISCA-37396-Loss Zornitza Stark Region: isca-37396-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.15 ISCA-37396-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37396-Loss.
Common deletion and duplication syndromes v0.15 ISCA-37396-Loss Zornitza Stark Region: ISCA-37396-Loss was added
Region: ISCA-37396-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321; 22359776
Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, MIM#613406; intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive
Review for Region: ISCA-37396-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list
Common deletion and duplication syndromes v0.14 ISCA-37392-Gain Zornitza Stark Phenotypes for Region: ISCA-37392-Gain were changed from 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation to Chromosome 7q11.23 duplication syndrome, MIM# 609757; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation
Common deletion and duplication syndromes v0.13 ISCA-37392-Gain Zornitza Stark edited their review of Region: ISCA-37392-Gain: Changed phenotypes: Chromosome 7q11.23 duplication syndrome, MIM# 609757, intellectual disability, hypotonia, macrocephaly, seizures, aortic dilatation
Common deletion and duplication syndromes v0.13 ISCA-37394-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37394-Loss.
Common deletion and duplication syndromes v0.13 ISCA-37392-Loss Zornitza Stark Phenotypes for Region: ISCA-37392-Loss were changed from Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease to Williams-Beuren syndrome, MIM# 194050; intellectual disability; growth retardation; cardiovascular disease
Common deletion and duplication syndromes v0.12 ISCA-37392-Loss Zornitza Stark edited their review of Region: ISCA-37392-Loss: Changed phenotypes: Williams-Beuren syndrome, MIM# 194050, intellectual disability, growth retardation, cardiovascular disease
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Marked Region: ISCA-37394-Loss as ready
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Region: isca-37394-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Classified Region: ISCA-37394-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.12 ISCA-37394-Loss Zornitza Stark Region: isca-37394-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.11 ISCA-37394-Loss Zornitza Stark Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37394-Loss were set to 20691407
Phenotypes for Region: ISCA-37394-Loss were set to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly, intellectual disability
Review for Region: ISCA-37394-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.10 ISCA-37390-Loss Zornitza Stark Phenotypes for Region: ISCA-37390-Loss were changed from Cri-du-chat syndrome; intellectual disability; microcephaly to Cri-du-chat syndrome MIM#123450; intellectual disability; microcephaly
Common deletion and duplication syndromes v0.9 ISCA-37390-Loss Zornitza Stark edited their review of Region: ISCA-37390-Loss: Changed phenotypes: Cri-du-chat syndrome MIM#123450, intellectual disability, microcephaly
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Marked Region: ISCA-37393-Gain as ready
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Classified Region: ISCA-37393-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.8 ISCA-37393-Gain Zornitza Stark Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Review for Region: ISCA-37393-Gain was set to GREEN
Added comment: Well established CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Marked Region: ISCA-37392-Loss as ready
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Region: isca-37392-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Classified Region: ISCA-37392-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.7 ISCA-37392-Loss Zornitza Stark Region: isca-37392-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.6 ISCA-37392-Loss Zornitza Stark Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review
SV/CNV tags were added to Region: ISCA-37392-Loss.
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease
Review for Region: ISCA-37392-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37392-Gain.
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Marked Region: ISCA-37392-Gain as ready
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Region: isca-37392-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Classified Region: ISCA-37392-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.5 ISCA-37392-Gain Zornitza Stark Region: isca-37392-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.4 ISCA-37392-Gain Zornitza Stark Region: ISCA-37392-Gain was added
Region: ISCA-37392-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review
Mode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37392-Gain were set to 33187326; 27615053; 26610320
Phenotypes for Region: ISCA-37392-Gain were set to 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation
Review for Region: ISCA-37392-Gain was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.3 ISCA-37390-Loss Zornitza Stark Marked Region: ISCA-37390-Loss as ready
Common deletion and duplication syndromes v0.3 ISCA-37390-Loss Zornitza Stark Region: isca-37390-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.3 ISCA-37390-Loss Zornitza Stark Publications for Region: ISCA-37390-Loss were set to
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark edited their review of Region: ISCA-37390-Loss: Changed publications: 16953888
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37390-Loss.
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark Classified Region: ISCA-37390-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.2 ISCA-37390-Loss Zornitza Stark Region: isca-37390-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.1 ISCA-37390-Loss Zornitza Stark Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37390-Loss were set to Cri-du-chat syndrome; intellectual disability; microcephaly
Review for Region: ISCA-37390-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert Review
Common deletion and duplication syndromes v0.0 Zornitza Stark Added Panel Common deletion and duplication syndromes
Set panel types to: Victorian Clinical Genetics Services; Rare Disease
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Classified gene: LARS2 as Green List (high evidence)
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Leukodystrophy v0.210 KARS Zornitza Stark Marked gene: KARS as ready
Leukodystrophy v0.210 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Leukodystrophy v0.210 KARS Zornitza Stark Phenotypes for gene: KARS were changed from deafness and leukodystrophy to Deafness, autosomal recessive 89, MIM# 613916; Leukodystrophy
Leukodystrophy v0.209 KARS Zornitza Stark Classified gene: KARS as Green List (high evidence)
Leukodystrophy v0.209 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.172 KARS Zornitza Stark Marked gene: KARS as ready
Additional findings_Paediatric v0.172 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.172 KARS Zornitza Stark Phenotypes for gene: KARS were changed from Hearing loss; Charcot-Marie-Tooth disease, recessive intermediate to deafness with progressive leukodystrophy
Additional findings_Paediatric v0.171 KARS Zornitza Stark Publications for gene: KARS were set to
Additional findings_Paediatric v0.170 KARS Zornitza Stark Classified gene: KARS as Green List (high evidence)
Additional findings_Paediatric v0.170 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Marked gene: HOMER2 as ready
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Gene: homer2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Classified gene: HOMER2 as Green List (high evidence)
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Gene: homer2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.168 HGF Zornitza Stark Marked gene: HGF as ready
Additional findings_Paediatric v0.168 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.168 HGF Zornitza Stark Classified gene: HGF as Green List (high evidence)
Additional findings_Paediatric v0.168 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Familial hypercholesterolaemia v0.14 LDLR Zornitza Stark Marked gene: LDLR as ready
Familial hypercholesterolaemia v0.14 LDLR Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence).
Familial hypercholesterolaemia v0.14 LDLR Zornitza Stark Phenotypes for gene: LDLR were changed from to Hypercholesterolemia, familial, 1 143890
Familial hypercholesterolaemia v0.13 LDLR Zornitza Stark Publications for gene: LDLR were set to
Familial hypercholesterolaemia v0.12 LDLR Zornitza Stark Mode of inheritance for gene: LDLR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome to Perrault syndrome; autosomal recessive sensorineural hearing loss
Additional findings_Paediatric v0.166 HARS2 Zornitza Stark Classified gene: HARS2 as Green List (high evidence)
Additional findings_Paediatric v0.166 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant hearing loss, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from Hearing loss to Autosomal dominant hearing loss, MIM# 608641
Additional findings_Paediatric v0.164 GRHL2 Zornitza Stark Classified gene: GRHL2 as Green List (high evidence)
Additional findings_Paediatric v0.164 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Mendeliome v0.5483 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Mendeliome v0.5483 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Mendeliome v0.5483 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from to Occipital horn syndrome, 304150; X-linked recessive Menkes disease, 309400 Spinal muscular atrophy, distal, X-linked 3, 300489
Mendeliome v0.5482 ATP7A Zornitza Stark Publications for gene: ATP7A were set to
Mendeliome v0.5481 ATP7A Zornitza Stark Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral vascular malformations v0.14 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Cerebral vascular malformations v0.14 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.14 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Moya Moya; intellectual disability to Moya Moya; Sifrim-Hitz-Weiss syndrome, MIM# 617159
Cerebral vascular malformations v0.13 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Cerebral vascular malformations v0.13 SETD5 Zornitza Stark Gene: setd5 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.13 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from Moya Moya; intellectual disability to Moya Moya; Mental retardation, autosomal dominant 23, MIM# 615761
Mendeliome v0.5480 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Mendeliome v0.5480 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Mendeliome v0.5480 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from to Heimler syndrome 1 234580; Peroxisome biogenesis disorder 1A (Zellweger) 214100; . Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
Mendeliome v0.5479 PEX1 Zornitza Stark Publications for gene: PEX1 were set to
Mendeliome v0.5478 PEX1 Zornitza Stark Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.12 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from Moya Moya; iIntellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 to Moya Moya; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Cerebral vascular malformations v0.11 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Cerebral vascular malformations v0.11 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v0.11 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from Moya Moya; intellectual disability to Moya Moya; iIntellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Intellectual disability syndromic and non-syndromic v0.3222 HDAC4 Bryony Thompson Classified gene: HDAC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3222 HDAC4 Bryony Thompson Gene: hdac4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3221 HDAC4 Bryony Thompson reviewed gene: HDAC4: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.xhgg.2020.100015; Phenotypes: Intellectual disability, hypotonia, dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5477 HDAC4 Bryony Thompson Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962
Mendeliome v0.5476 HDAC4 Bryony Thompson Classified gene: HDAC4 as Green List (high evidence)
Mendeliome v0.5476 HDAC4 Bryony Thompson Gene: hdac4 has been classified as Green List (High Evidence).
Mendeliome v0.5475 HDAC4 Bryony Thompson Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability; Intellectual disability syndrome
Mendeliome v0.5474 HDAC4 Bryony Thompson reviewed gene: HDAC4: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.xhgg.2020.100015; Phenotypes: Intellectual disability, hypotonia, dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.163 LARS2 Lilian Downie reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.208 KARS Lilian Downie gene: KARS was added
gene: KARS was added to Leukodystrophy - paediatric. Sources: Expert list
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 30737337; 31116475; 30715177
Phenotypes for gene: KARS were set to deafness and leukodystrophy
Review for gene: KARS was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.163 KARS Lilian Downie reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30737337, 31116475, 30715177; Phenotypes: deafness with progressive leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.163 HOMER2 Lilian Downie gene: HOMER2 was added
gene: HOMER2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness
Review for gene: HOMER2 was set to GREEN
Added comment: Moderate by ClinGen hearing loss expert committee. Isolated hearing impairment onset in first decade of life.
Sources: Expert list
Additional findings_Paediatric v0.163 HGF Lilian Downie reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive non syndromic deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia v0.11 LDLR Elena Savva reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10978268; Phenotypes: Hypercholesterolemia, familial, 1 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Additional findings_Paediatric v0.163 HARS2 Lilian Downie reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome, autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.163 GRHL2 Lilian Downie reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant hearing loss, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5474 SEC61A1 Elena Savva reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28782633, 27392076; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Hypogammaglobulinaemia, Neutropaenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5474 ATP7A Elena Savva reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21221114; Phenotypes: Occipital horn syndrome, 304150, X-linked recessive Menkes disease, 309400 Spinal muscular atrophy, distal, X-linked 3, 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral vascular malformations v0.10 CHD4 Sue White gene: CHD4 was added
gene: CHD4 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD4 were set to 31474762
Phenotypes for gene: CHD4 were set to Moya Moya; intellectual disability
Penetrance for gene: CHD4 were set to Incomplete
Review for gene: CHD4 was set to RED
Added comment: 5 individuals reported with Moya Moya and ID, but only in one was de novo inheritance confirmed. 4 missense variants and one canonical splice.
Sources: Literature
Cerebral vascular malformations v0.9 SETD5 Sue White gene: SETD5 was added
gene: SETD5 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD5 were set to 31474762
Phenotypes for gene: SETD5 were set to Moya Moya; intellectual disability
Penetrance for gene: SETD5 were set to Complete
Review for gene: SETD5 was set to RED
Added comment: single family reported with de novo SETD5 frameshift in a child with ID and Moya Moya. 2 other families with novel missense and concordant phenotypes but no parental segregation performed.
Sources: Literature
Cerebral vascular malformations v0.8 CNOT3 Sue White Classified gene: CNOT3 as Amber List (moderate evidence)
Cerebral vascular malformations v0.8 CNOT3 Sue White Gene: cnot3 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v0.7 CNOT3 Sue White gene: CNOT3 was added
gene: CNOT3 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT3 were set to 31474762
Phenotypes for gene: CNOT3 were set to Moya Moya; intellectual disability
Penetrance for gene: CNOT3 were set to Complete
Review for gene: CNOT3 was set to AMBER
Added comment: 2 families with de novo variants (one nonsense and one missense) in individuals with ID and Moya Moya
Sources: Literature
Mendeliome v0.5474 PEX1 Elena Savva reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26387595; Phenotypes: Heimler syndrome 1 234580, Peroxisome biogenesis disorder 1A (Zellweger) 214100, . Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Marked gene: TMEM218 as ready
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Classified gene: TMEM218 as Green List (high evidence)
Syndromic Retinopathy v0.155 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.154 TMEM218 Bryony Thompson gene: TMEM218 was added
gene: TMEM218 was added to Syndromic Retinopathy. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele
Review for gene: TMEM218 was set to GREEN
Added comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry.
Sources: Literature
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Marked gene: TMEM218 as ready
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Classified gene: TMEM218 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.90 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.89 TMEM218 Bryony Thompson gene: TMEM218 was added
gene: TMEM218 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele
Review for gene: TMEM218 was set to GREEN
Added comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry.
Sources: Literature
Mendeliome v0.5474 TMEM218 Bryony Thompson Marked gene: TMEM218 as ready
Mendeliome v0.5474 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Mendeliome v0.5474 TMEM218 Bryony Thompson Classified gene: TMEM218 as Green List (high evidence)
Mendeliome v0.5474 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Mendeliome v0.5473 TMEM218 Bryony Thompson gene: TMEM218 was added
gene: TMEM218 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele
Review for gene: TMEM218 was set to GREEN
Added comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry.
Sources: Literature
Mendeliome v0.5472 AGBL1 Zornitza Stark Marked gene: AGBL1 as ready
Mendeliome v0.5472 AGBL1 Zornitza Stark Gene: agbl1 has been classified as Red List (Low Evidence).
Mendeliome v0.5472 AGBL1 Zornitza Stark gene: AGBL1 was added
gene: AGBL1 was added to Mendeliome. Sources: Expert Review
disputed tags were added to gene: AGBL1.
Mode of inheritance for gene: AGBL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AGBL1 were set to 24094747; 31555324
Phenotypes for gene: AGBL1 were set to Corneal dystrophy, Fuchs endothelial, 8, MIM# 615523
Review for gene: AGBL1 was set to RED
Added comment: Gene disease association first reported in 2013 in PMID 24094747, in a large multigenerational family. However, note the variant reported, p.Arg1028Ter is present in over 400 hets in gnomad. Another variant reported in same paper, p.Cys990Ser in three unrelated individuals, is present in over 300 hets in gnomad and 1 hom.

Two further variants reported in PMID 31555324, one is missense, p.Arg748His, present in 60 hets, and the other, p.Arg1028Ter, is present is the variant identified in the previous publication, present in over 400 hets.

These variant frequencies are out of keeping for a rare disorder.
Sources: Expert Review
Mendeliome v0.5471 TLE6 Zornitza Stark Marked gene: TLE6 as ready
Mendeliome v0.5471 TLE6 Zornitza Stark Gene: tle6 has been classified as Green List (High Evidence).
Mendeliome v0.5471 TLE6 Zornitza Stark Classified gene: TLE6 as Green List (high evidence)
Mendeliome v0.5471 TLE6 Zornitza Stark Gene: tle6 has been classified as Green List (High Evidence).
Mendeliome v0.5470 TLE6 Zornitza Stark gene: TLE6 was added
gene: TLE6 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TLE6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TLE6 were set to 26537248; 31897846
Phenotypes for gene: TLE6 were set to Preimplantation embryonic lethality, MIM# 616814
Review for gene: TLE6 was set to GREEN
Added comment: At least 5 individuals reported with bi-allelic variants and early embryonic lethality.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3221 OGT Zornitza Stark Marked gene: OGT as ready
Intellectual disability syndromic and non-syndromic v0.3221 OGT Zornitza Stark Gene: ogt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3221 OGT Zornitza Stark Phenotypes for gene: OGT were changed from to Mental retardation, X-linked 106, MIM# 300997
Intellectual disability syndromic and non-syndromic v0.3220 OGT Zornitza Stark Publications for gene: OGT were set to
Intellectual disability syndromic and non-syndromic v0.3219 OGT Zornitza Stark Mode of inheritance for gene: OGT was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.3218 OGT Zornitza Stark reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302723, 28584052, 31296563, 31627256, 29769320, 29606577; Phenotypes: Mental retardation, X-linked 106, MIM# 300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5469 OGT Zornitza Stark Marked gene: OGT as ready
Mendeliome v0.5469 OGT Zornitza Stark Gene: ogt has been classified as Green List (High Evidence).
Mendeliome v0.5469 OGT Zornitza Stark Phenotypes for gene: OGT were changed from to Mental retardation, X-linked 106, MIM# 300997
Mendeliome v0.5468 OGT Zornitza Stark Publications for gene: OGT were set to
Mendeliome v0.5467 OGT Zornitza Stark Mode of inheritance for gene: OGT was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.5466 OGT Zornitza Stark reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302723, 28584052, 31296563, 31627256, 29769320, 29606577; Phenotypes: Mental retardation, X-linked 106, MIM# 300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Marked gene: OGT as ready
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Gene: ogt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Classified gene: OGT as Green List (high evidence)
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Gene: ogt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.211 OGT Zornitza Stark gene: OGT was added
gene: OGT was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OGT were set to 28302723; 28584052; 31296563; 31627256; 29769320; 29606577
Phenotypes for gene: OGT were set to Mental retardation, X-linked 106, MIM# 300997
Review for gene: OGT was set to GREEN
Added comment: OGT encodes O-GlcNAc transferase subunit p110. More than 5 unrelated families reported, presenting with ID, hypotonia, eye abnormalities, hearing impairment, behavioural problems, short stature, dysmorphism. Functional data supports gene-disease association.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.209 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690; 28148688; 28331220
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Review for gene: EXTL3 was set to GREEN
Added comment: EXTL3 is a glycosyltransferase involved in the synthesis of heparin and heparan sulfate. 8 unrelated families reported with skeletal dysplasia +/- immune deficiency and neurodevelopmental abnormalities.
Sources: Expert Review
Mendeliome v0.5466 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Mendeliome v0.5466 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Mendeliome v0.5466 EXTL3 Zornitza Stark Phenotypes for gene: EXTL3 were changed from to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Mendeliome v0.5465 EXTL3 Zornitza Stark Publications for gene: EXTL3 were set to
Mendeliome v0.5464 EXTL3 Zornitza Stark Mode of inheritance for gene: EXTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5463 EXTL3 Zornitza Stark reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690, 28148688, 28331220; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Atrial Fibrillation v0.2 NPPA Ain Roesley reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 18614783, 20064500, 31034774, 31077706; Phenotypes: Atrial fibrillation, familial, 6, (MIM#612201); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5463 SSR3 Zornitza Stark Marked gene: SSR3 as ready
Mendeliome v0.5463 SSR3 Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5463 SSR3 Zornitza Stark Classified gene: SSR3 as Amber List (moderate evidence)
Mendeliome v0.5463 SSR3 Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.5462 SSR3 Zornitza Stark gene: SSR3 was added
gene: SSR3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SSR3 were set to 30945312
Phenotypes for gene: SSR3 were set to Congenital disorder of glycosylation
Review for gene: SSR3 was set to AMBER
Added comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence.
Sources: Literature
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Marked gene: SSR3 as ready
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Classified gene: SSR3 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.207 SSR3 Zornitza Stark gene: SSR3 was added
gene: SSR3 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SSR3 were set to 30945312
Phenotypes for gene: SSR3 were set to Congenital disorder of glycosylation
Review for gene: SSR3 was set to AMBER
Added comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence.
Sources: Literature
Mendeliome v0.5461 LCP2 Zornitza Stark Marked gene: LCP2 as ready
Mendeliome v0.5461 LCP2 Zornitza Stark Gene: lcp2 has been classified as Red List (Low Evidence).
Mendeliome v0.5461 LCP2 Zornitza Stark gene: LCP2 was added
gene: LCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCP2 were set to 33231617
Phenotypes for gene: LCP2 were set to Severe combined immunodeficiency
Review for gene: LCP2 was set to RED
Added comment: Infant with bi-allelic variants in this gene and early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3218 DPM2 Zornitza Stark Classified gene: DPM2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3218 DPM2 Zornitza Stark Gene: dpm2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3217 DPM2 Zornitza Stark edited their review of gene: DPM2: Added comment: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.; Changed rating: GREEN; Changed publications: 23109149, 33129689
Mendeliome v0.5460 DPM2 Zornitza Stark Publications for gene: DPM2 were set to 23109149
Mendeliome v0.5459 DPM2 Zornitza Stark Classified gene: DPM2 as Green List (high evidence)
Mendeliome v0.5459 DPM2 Zornitza Stark Gene: dpm2 has been classified as Green List (High Evidence).
Mendeliome v0.5458 DPM2 Zornitza Stark edited their review of gene: DPM2: Added comment: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.; Changed rating: GREEN; Changed publications: 23109149, 33129689
Congenital Disorders of Glycosylation v0.206 DPM2 Zornitza Stark Publications for gene: DPM2 were set to 23109149
Congenital Disorders of Glycosylation v0.205 DPM2 Zornitza Stark Classified gene: DPM2 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.205 DPM2 Zornitza Stark Gene: dpm2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.204 DPM2 Zornitza Stark changed review comment from: Further family reported.; to: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.
Congenital Disorders of Glycosylation v0.204 DPM2 Zornitza Stark edited their review of gene: DPM2: Added comment: Further family reported.; Changed rating: GREEN; Changed publications: 23109149, 33129689
Mendeliome v0.5458 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Mendeliome v0.5458 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Mendeliome v0.5458 ATP6V0A2 Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250
Mendeliome v0.5457 ATP6V0A2 Zornitza Stark Publications for gene: ATP6V0A2 were set to
Mendeliome v0.5456 ATP6V0A2 Zornitza Stark Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.204 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Congenital Disorders of Glycosylation v0.204 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.204 ATP6V0A2 Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250
Mendeliome v0.5455 ATP6V0A2 Zornitza Stark reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29952037, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.203 ATP6V0A2 Zornitza Stark Publications for gene: ATP6V0A2 were set to
Congenital Disorders of Glycosylation v0.202 ATP6V0A2 Zornitza Stark Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.201 ATP6V0A2 Zornitza Stark reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29952037, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.163 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Additional findings_Paediatric v0.163 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.163 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Additional findings_Paediatric v0.162 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Additional findings_Paediatric v0.161 ALG9 Zornitza Stark Classified gene: ALG9 as Green List (high evidence)
Additional findings_Paediatric v0.161 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.160 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3217 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Intellectual disability syndromic and non-syndromic v0.3217 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3217 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776
Intellectual disability syndromic and non-syndromic v0.3216 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Intellectual disability syndromic and non-syndromic v0.3215 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.925 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Genetic Epilepsy v0.925 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.925 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776
Genetic Epilepsy v0.924 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Genetic Epilepsy v0.923 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.922 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5455 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Mendeliome v0.5455 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Mendeliome v0.5455 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Polycystic kidney disease
Mendeliome v0.5454 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Mendeliome v0.5453 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5452 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210, Polycystic kidney disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.201 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Congenital Disorders of Glycosylation v0.201 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.201 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Congenital Disorders of Glycosylation v0.200 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Congenital Disorders of Glycosylation v0.199 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.198 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3214 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Intellectual disability syndromic and non-syndromic v0.3214 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3214 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104
Intellectual disability syndromic and non-syndromic v0.3213 ALG8 Zornitza Stark Publications for gene: ALG8 were set to
Intellectual disability syndromic and non-syndromic v0.3212 ALG8 Zornitza Stark Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3211 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5452 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih, MIM# 608104 to Congenital disorder of glycosylation, type Ih, MIM# 608104; Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Mendeliome v0.5451 ALG8 Zornitza Stark Publications for gene: ALG8 were set to 26066342
Mendeliome v0.5450 ALG8 Zornitza Stark Mode of inheritance for gene: ALG8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.5449 ALG8 Zornitza Stark changed review comment from: Review of 15 reported individuals in PMID: 26066342: multiple prenatal abnormalities were present in 6/12 patients. In 13/15, there were symptoms at birth, 9/15 died within 12 months. Birth weight was appropriate in 11/12, only one was small for gestational age. Prematurity was reported in 7/12. Hydrops fetalis was noticed in 3, edemas in 11/13; gastrointestinal symptoms in 9/14; structural brain pathology, psychomental retardation, seizures, ataxia in 12/13, muscle hypotonia in 13/14. Common dysmorphic signs were: low set ears, macroglossia, hypertelorism, pes equinovarus, campto- and brachydactyly (13/15). In 10/11, there was coagulopathy, in 8/11 elevated transaminases; thrombocytopenia was present in 9/9. Eye involvement was reported in 9/14. CDG typical skin involvement was reported in 8/13.; to: Bi-allelic variants and CDG: Review of 15 reported individuals in PMID: 26066342. Multiple prenatal abnormalities were present in 6/12 patients. In 13/15, there were symptoms at birth, 9/15 died within 12 months. Birth weight was appropriate in 11/12, only one was small for gestational age. Prematurity was reported in 7/12. Hydrops fetalis was noticed in 3, edemas in 11/13; gastrointestinal symptoms in 9/14; structural brain pathology, psychomental retardation, seizures, ataxia in 12/13, muscle hypotonia in 13/14. Common dysmorphic signs were: low set ears, macroglossia, hypertelorism, pes equinovarus, campto- and brachydactyly (13/15). In 10/11, there was coagulopathy, in 8/11 elevated transaminases; thrombocytopenia was present in 9/9. Eye involvement was reported in 9/14. CDG typical skin involvement was reported in 8/13.
Mendeliome v0.5449 ALG8 Zornitza Stark edited their review of gene: ALG8: Added comment: Monoallelic variants are associated with polycystic liver disease.; Changed publications: 26066342, 28375157, 15235028; Changed phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104, Polycystic liver disease 3 with or without kidney cysts, MIM# 617874; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.922 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Genetic Epilepsy v0.922 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.922 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih, MIM# 608104 to Congenital disorder of glycosylation, type Ih, MIM# 608104
Genetic Epilepsy v0.921 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104
Genetic Epilepsy v0.920 ALG8 Zornitza Stark Publications for gene: ALG8 were set to 26066342
Genetic Epilepsy v0.920 ALG8 Zornitza Stark Publications for gene: ALG8 were set to
Genetic Epilepsy v0.919 ALG8 Zornitza Stark Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.918 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5449 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Mendeliome v0.5449 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Mendeliome v0.5449 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104
Mendeliome v0.5448 ALG8 Zornitza Stark Publications for gene: ALG8 were set to
Mendeliome v0.5447 ALG8 Zornitza Stark Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5446 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.198 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Congenital Disorders of Glycosylation v0.198 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.198 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104
Congenital Disorders of Glycosylation v0.197 ALG8 Zornitza Stark Publications for gene: ALG8 were set to
Congenital Disorders of Glycosylation v0.196 ALG8 Zornitza Stark Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.195 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3211 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Intellectual disability syndromic and non-syndromic v0.3211 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3211 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110
Intellectual disability syndromic and non-syndromic v0.3210 ALG3 Zornitza Stark Publications for gene: ALG3 were set to
Intellectual disability syndromic and non-syndromic v0.3209 ALG3 Zornitza Stark Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3208 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.918 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Genetic Epilepsy v0.918 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.918 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110
Genetic Epilepsy v0.917 ALG3 Zornitza Stark Publications for gene: ALG3 were set to
Genetic Epilepsy v0.916 ALG3 Zornitza Stark Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.915 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5446 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Mendeliome v0.5446 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Mendeliome v0.5446 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110
Mendeliome v0.5445 ALG3 Zornitza Stark Publications for gene: ALG3 were set to
Mendeliome v0.5444 ALG3 Zornitza Stark Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5443 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.195 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Congenital Disorders of Glycosylation v0.195 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.195 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110
Congenital Disorders of Glycosylation v0.194 ALG3 Zornitza Stark Publications for gene: ALG3 were set to
Congenital Disorders of Glycosylation v0.193 ALG3 Zornitza Stark Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.192 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5443 SLC3A2 Zornitza Stark Phenotypes for gene: SLC3A2 were changed from to Autism
Mendeliome v0.5442 SLC3A2 Zornitza Stark Publications for gene: SLC3A2 were set to
Mendeliome v0.5441 SLC3A2 Zornitza Stark reviewed gene: SLC3A2: Rating: RED; Mode of pathogenicity: None; Publications: 31701662; Phenotypes: Autism; Mode of inheritance: None
Mendeliome v0.5441 SLC3A2 Naomi Baker changed review comment from: No evidence of mendelian gene-disease association reported in the literature.; to: Weak evidence of mendelian gene-disease association reported in the literature.

Three monoallelic missense variants reported in patients with Autism spectrum disorder (ASD) from one publication (PMID: 31701662).
Mendeliome v0.5441 SLC3A2 Zornitza Stark Marked gene: SLC3A2 as ready
Mendeliome v0.5441 SLC3A2 Zornitza Stark Gene: slc3a2 has been classified as Red List (Low Evidence).
Mendeliome v0.5441 SLC3A2 Zornitza Stark Classified gene: SLC3A2 as Red List (low evidence)
Mendeliome v0.5441 SLC3A2 Zornitza Stark Gene: slc3a2 has been classified as Red List (Low Evidence).
Mendeliome v0.5440 HOXA4 Zornitza Stark Marked gene: HOXA4 as ready
Mendeliome v0.5440 HOXA4 Zornitza Stark Gene: hoxa4 has been classified as Red List (Low Evidence).
Mendeliome v0.5440 HOXA4 Zornitza Stark Publications for gene: HOXA4 were set to 33193662
Mendeliome v0.5439 HOXA4 Zornitza Stark Phenotypes for gene: HOXA4 were changed from to Microtia-Atresia; CAKUT
Mendeliome v0.5438 HOXA4 Zornitza Stark Publications for gene: HOXA4 were set to
Mendeliome v0.5437 HOXA4 Zornitza Stark Mode of inheritance for gene: HOXA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5436 HOXA4 Zornitza Stark Classified gene: HOXA4 as Red List (low evidence)
Mendeliome v0.5436 HOXA4 Zornitza Stark Gene: hoxa4 has been classified as Red List (Low Evidence).
Mendeliome v0.5435 ASTE1 Zornitza Stark Marked gene: ASTE1 as ready
Mendeliome v0.5435 ASTE1 Zornitza Stark Gene: aste1 has been classified as Red List (Low Evidence).
Mendeliome v0.5435 ASTE1 Zornitza Stark Phenotypes for gene: ASTE1 were changed from to palmar and plantar fibromatosis
Mendeliome v0.5434 ASTE1 Zornitza Stark Publications for gene: ASTE1 were set to
Mendeliome v0.5433 ASTE1 Zornitza Stark Mode of inheritance for gene: ASTE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5432 ASTE1 Zornitza Stark Classified gene: ASTE1 as Red List (low evidence)
Mendeliome v0.5432 ASTE1 Zornitza Stark Gene: aste1 has been classified as Red List (Low Evidence).
Mendeliome v0.5431 SLC3A2 Naomi Baker reviewed gene: SLC3A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.5431 HOXA4 Naomi Baker reviewed gene: HOXA4: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33193662; Phenotypes: Microtia-Atresia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5431 ASTE1 Naomi Baker reviewed gene: ASTE1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29104234; Phenotypes: palmar and plantar fibromatosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5431 SMARCA1 Zornitza Stark Marked gene: SMARCA1 as ready
Mendeliome v0.5431 SMARCA1 Zornitza Stark Gene: smarca1 has been classified as Red List (Low Evidence).
Mendeliome v0.5431 SMARCA1 Zornitza Stark Phenotypes for gene: SMARCA1 were changed from to Intellectual disability
Mendeliome v0.5430 SMARCA1 Zornitza Stark Publications for gene: SMARCA1 were set to
Mendeliome v0.5429 SMARCA1 Zornitza Stark Mode of inheritance for gene: SMARCA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.5428 SMARCA1 Zornitza Stark Classified gene: SMARCA1 as Red List (low evidence)
Mendeliome v0.5428 SMARCA1 Zornitza Stark Gene: smarca1 has been classified as Red List (Low Evidence).
Mendeliome v0.5427 CDKAL1 Zornitza Stark Marked gene: CDKAL1 as ready
Mendeliome v0.5427 CDKAL1 Zornitza Stark Gene: cdkal1 has been classified as Red List (Low Evidence).
Mendeliome v0.5427 CDKAL1 Zornitza Stark Classified gene: CDKAL1 as Red List (low evidence)
Mendeliome v0.5427 CDKAL1 Zornitza Stark Gene: cdkal1 has been classified as Red List (Low Evidence).
Mendeliome v0.5426 TCHH Zornitza Stark Marked gene: TCHH as ready
Mendeliome v0.5426 TCHH Zornitza Stark Gene: tchh has been classified as Red List (Low Evidence).
Mendeliome v0.5426 TCHH Zornitza Stark Phenotypes for gene: TCHH were changed from to Uncombable hair syndrome 3 MIM#617252
Mendeliome v0.5425 TCHH Zornitza Stark Publications for gene: TCHH were set to
Mendeliome v0.5424 TCHH Zornitza Stark Mode of inheritance for gene: TCHH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5423 TCHH Zornitza Stark Classified gene: TCHH as Red List (low evidence)
Mendeliome v0.5423 TCHH Zornitza Stark Gene: tchh has been classified as Red List (Low Evidence).
Mendeliome v0.5422 TCHH Naomi Baker reviewed gene: TCHH: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27866708; Phenotypes: Uncombable hair syndrome 3 MIM#617252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5422 CDKAL1 Naomi Baker reviewed gene: CDKAL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682