Undiagnosed metabolic disorders
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, 3:18 p.m. | Last Modified: 30 Jun 2022, 4:15 p.m.
Panel Version: 1.538
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Gaucher disease (Sphingolipidoses)
- 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
- Tags
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Lysosomal storage disorder
- Haematological malignancies cancer susceptibility
- Cholestasis
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- Familial pulmonary fibrosis
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Arthrogryposis
- Early onset or syndromic epilepsy
- Haematological malignancies for rare disease
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Intellectual disability
- Gaucher disease
- Adult onset dystonia, chorea or related movement disorder
- Iron metabolism disorders - NOT common HFE mutations
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- 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
Sarah Leigh (Genomics England Curator)Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)GBA was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Green Model of inheritance for gene GBA was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)GBA was added to Undiagnosed metabolic disorderspanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)GBA was created by sleigh