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Lysosomal Storage Disorder v0.109 | GBA | Zornitza Stark Marked gene: GBA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.109 | GBA | Zornitza Stark Gene: gba has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.109 | GBA | Zornitza Stark Phenotypes for gene: GBA were changed from 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.108 | GBA | Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.107 | GBA | Zornitza Stark reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.0 | GBA |
Zornitza Stark gene: GBA was added gene: GBA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GBA was set to Unknown |