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Mendeliome v0.13481 B4GALT1 Zornitza Stark Marked gene: B4GALT1 as ready
Mendeliome v0.13481 B4GALT1 Zornitza Stark Gene: b4galt1 has been classified as Green List (High Evidence).
Mendeliome v0.13481 B4GALT1 Zornitza Stark Phenotypes for gene: B4GALT1 were changed from to Congenital disorder of glycosylation, type Iid, MIM#607091
Mendeliome v0.13480 B4GALT1 Zornitza Stark Publications for gene: B4GALT1 were set to
Mendeliome v0.13479 B4GALT1 Zornitza Stark Mode of inheritance for gene: B4GALT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13478 B4GALT1 Zornitza Stark changed review comment from: Intellectual disability is part of CDG, although non-neurological forms of this CDG have been described.
Sources: Expert list; to: At least 3 unrelated families.
Sources: Expert list
Mendeliome v0.0 B4GALT1 Zornitza Stark gene: B4GALT1 was added
gene: B4GALT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B4GALT1 was set to Unknown