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Gaucher disease
Gene: GBA
GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The new approved HGNC gene symbol for GBA is GBA1.Created: 6 Sep 2023, 9:21 p.m. | Last Modified: 6 Sep 2023, 9:21 p.m.
Panel Version: 0.1
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #230800, #230900, #231000, #231005 & #608013) and the OMIM records were last accessed on 18 December 2025.Created: 18 Dec 2025, 10:54 a.m. | Last Modified: 18 Dec 2025, 10:54 a.m.
Panel Version: 1.2
GBA has been added to the panel for R272 Gaucher disease with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:16 p.m. | Last Modified: 30 Jun 2023, 1:16 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Gaucher disease, type I, OMIM:230800
- Gaucher disease, type II, OMIM:230900
- Gaucher disease, type III, OMIM:231000
- Gaucher disease, type IIIC, OMIM:231005
- Gaucher disease, perinatal lethal, OMIM:608013
- Tags
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- None
- Panels with this gene
-
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Bleeding and platelet disorders
- DDG2P
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Hyperammonaemia
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Haematological malignancies for rare disease
- Likely inborn error of metabolism
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Gaucher disease
- Iron metabolism disorders - NOT common HFE mutations
- Arthrogryposis
- Inherited bleeding disorders
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
18 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GBA were changed from to Gaucher disease, type I, OMIM:230800; Gaucher disease, type II, OMIM:230900; Gaucher disease, type III, OMIM:231000; Gaucher disease, type IIIC, OMIM:231005; Gaucher disease, perinatal lethal, OMIM:608013
11 Aug 2023, Gel status: 3
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag new-gene-name tag was added to gene: GBA.
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: GBA was added gene: GBA was added to Gaucher disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal