Neonatal cholestasis
Gene: GBAAdded new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.Created: 30 Jun 2022, 3:16 p.m. | Last Modified: 30 Jun 2022, 4:13 p.m.
Panel Version: 1.24
Comment when marking as ready: Associated with relevant phenotype in OMIM and as both DD and IF Gen2Phen gene. At least 40 variants reported.Created: 14 Aug 2018, 12:44 p.m.
Comment on phenotypes: Gaucher disease, perinatal lethal 608013;Gaucher disease, type I 230800;Gaucher disease, type II 230900;Gaucher disease, type III 231000;Gaucher disease, type IIIC 231005 all these phenotypes have hepatomegaly as a clinical featureCreated: 14 Aug 2018, 12:36 p.m.
Tag new-gene-name tag was added to gene: GBA.
This panel has been subjected to extensive internal and external review.
Gene: gba has been classified as Green List (High Evidence).
Gene: gba has been classified as Green List (High Evidence).
Mode of inheritance for gene: GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease, perinatal lethal 608013; Gaucher disease, type I 230800; Gaucher disease, type II 230900; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005
GBA was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
GBA was created by Ellen McDonagh