Neonatal cholestasis
Gene: GBAEnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels
1 review
Sarah Leigh (Genomics England Curator)
Added 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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- 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
- Tags
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Lysosomal storage disorder
- Haematological malignancies cancer susceptibility
- Cholestasis
- Undiagnosed metabolic disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- DDG2P
- Familial pulmonary fibrosis
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Fetal hydrops
- Likely inborn error of metabolism
- Haematological malignancies for rare disease
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Gaucher disease
- Arthrogryposis
- Adult onset dystonia, chorea or related movement disorder
- Iron metabolism disorders - NOT common HFE mutations
- Inherited bleeding disorders
- Neonatal cholestasis
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag new-gene-name tag was added to gene: GBA.
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: gba has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: gba has been classified as Green List (High Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)GBA was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)GBA was created by Ellen McDonagh