Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Mendeliome v2.363 GBA1 chirag patel Marked gene: GBA1 as ready
Mendeliome v2.363 GBA1 chirag patel Gene: gba1 has been classified as Green List (High Evidence).
Mendeliome v2.363 chirag patel Copied gene GBA1 from panel Lysosomal Storage Disorder
Mendeliome v2.363 GBA1 chirag patel gene: GBA1 was added
gene: GBA1 was added to Mendeliome. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA1 were set to Gaucher disease, perinatal lethal, MIM# 608013; Gaucher disease, type I, MIM# 230800; Gaucher disease, type II, MIM# 230900; Gaucher disease, type III, MIM# 231000; Gaucher disease, type IIIC, MIM# 231005