Mucopolysaccharideosis, Gaucher, Fabry
Gene: GBAEnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Green gene, with a green review and is a "both DD and IF" gene on G2P. Mode of inheritance confirmed on G2P and OMIM.Created: 29 Feb 2016, 5:53 p.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher disease
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Gaucher disease
- Gaucher disease, type I, 230800
- Gaucher disease, type II, 230900
- Gaucher disease, type III, 231000
- Gaucher disease, type IIIC, 231005
- Gaucher disease, perinatal lethal, 608013
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- Complete
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- DDG2P
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Fetal anomalies
- Fetal hydrops
- Early onset or syndromic epilepsy
- Lysosomal storage disorder
- Cholestasis
- Haematological malignancies for rare disease
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Iron metabolism disorders - NOT common HFE mutations
- Likely inborn error of metabolism
- Gaucher disease
- Adult onset neurodegenerative disorder
- Intellectual disability
- Bleeding and platelet disorders
- Inherited bleeding disorders
- Neonatal cholestasis
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Arthrogryposis
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GBA was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GBA were set to Gaucher disease ; Gaucher disease, type I, 230800; Gaucher disease, type II, 230900; Gaucher disease, type III, 231000; Gaucher disease, type IIIC, 231005; Gaucher disease, perinatal lethal, 608013
Added New Source
Eik Haraldsdottir (Genomics England)GBA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)GBA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)GBA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen