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Intellectual disability - microarray and sequencing v3.1023 B4GALT1 Arina Puzriakova Publications for gene: B4GALT1 were set to 26503795; 24896178; 11901181; 21920538; 30653653
Intellectual disability - microarray and sequencing v3.1022 B4GALT1 Arina Puzriakova Classified gene: B4GALT1 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.1022 B4GALT1 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber as now there are 2 families (4 total) exhibiting severe cognitive impairment, albeit this resolved in the singleton by age 11 (remaining patients were age 2.5, 11 and 11 years at the time of reporting)
Intellectual disability - microarray and sequencing v3.1022 B4GALT1 Arina Puzriakova Gene: b4galt1 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.1021 B4GALT1 Arina Puzriakova reviewed gene: B4GALT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11901181, 21920538, 30653653, 32157688; Phenotypes: Congenital disorder of glycosylation, type IId, OMIM:607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1021 B4GALT1 Arina Puzriakova Publications for gene: B4GALT1 were set to 26503795; 24896178; 11901181; 21920538
Intellectual disability - microarray and sequencing v3.1020 B4GALT1 Arina Puzriakova Phenotypes for gene: B4GALT1 were changed from Congenital disorder of glycosylation, type IId 607091 to Congenital disorder of glycosylation, type IId, OMIM:607091
Intellectual disability - microarray and sequencing v3.1003 B4GALT1 Zornitza Stark reviewed gene: B4GALT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11901181, 30653653, 21920538; Phenotypes: Congenital disorder of glycosylation, type Iid, MIM#607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v2.468 B4GALT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to B4GALT1.