Metal Metabolism Disorders
Gene: GBA
GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 23 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS Genomic Medicine Service
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- 230800 Gaucher disease, type I
- 230900 Gaucher disease, type II
- 231005 Gaucher disease, type IIIC
- 231000 Gaucher disease, type III
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Pulmonary Fibrosis_Interstitial Lung Disease
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Congenital ophthalmoplegia
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Incidentalome
- Early-onset Dementia
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Arthrogryposis
- Cerebral Palsy
History Filter Activity
22 Jan 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GBA was added gene: GBA was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA were set to 27265538; 27816428; 20575041 Phenotypes for gene: GBA were set to 230800 Gaucher disease, type I; 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III