This Panel is marked as Internal
Early onset and familial Parkinson's 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
0 reviews
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Parkinson disease, late-onset, susceptibility to}, 168600
- {Lewy body dementia, susceptibility to}, 127750
- 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
- Gaucher disease, type I, 230800
- {Parkinson disease, late-onset, susceptibility to}, 168600
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- Complete
- 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
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GBA was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen