Lysosomal storage disorder
Gene: GBAEnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.Created: 30 Jun 2022, 3:17 p.m. | Last Modified: 30 Jun 2022, 4:13 p.m.
Panel Version: 1.78
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Carol Hardy (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
- Phenotypes
-
- Gaucher disease, type I OMIM:230800
- Gaucher disease type I MONDO:0009265
- Gaucher disease, type III OMIM:231000
- Gaucher disease type III MONDO:0009267
- Gaucher disease, type IIIC OMIM:231005
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268
- Gaucher disease, perinatal lethal OMIM:608013
- Gaucher disease perinatal lethal MONDO:0011945
- Gaucher disease, type II OMIM:230900
- Gaucher disease type II MONDO:0009266
- 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
Added Tag
Sarah Leigh (Genomics England Curator)Tag new-gene-name tag was added to gene: GBA.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GBA were changed from Gaucher disease, type I 230800; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005; Gaucher disease, perinatal lethal 608013; Gaucher disease, type II 230900 to Gaucher disease, type I OMIM:230800; Gaucher disease type I MONDO:0009265; Gaucher disease, type III OMIM:231000; Gaucher disease type III MONDO:0009267; Gaucher disease, type IIIC OMIM:231005; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268; Gaucher disease, perinatal lethal OMIM:608013; Gaucher disease perinatal lethal MONDO:0011945; Gaucher disease, type II OMIM:230900; Gaucher disease type II MONDO:0009266
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GBA was added gene: GBA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to Gaucher disease, type I 230800; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005; Gaucher disease, perinatal lethal 608013; Gaucher disease, type II 230900