Early onset dementia (encompassing fronto-temporal dementia and prion 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
1 review
simon mead (UCL)
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Gaucher disease, type I, 230800
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- Complete
- 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
- Intellectual disability
- Hyperammonaemia
- Fetal hydrops
- Arthrogryposis
- Haematological malignancies for rare disease
- Fetal anomalies
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Gaucher disease
- Adult onset dystonia, chorea or related movement disorder
- Iron metabolism disorders - NOT common HFE mutations
- Inherited bleeding disorders
- DDG2P
- Neonatal cholestasis
- Early onset or syndromic epilepsy
History Filter Activity
27 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GBA was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen