This Panel is marked as Internal
Early onset and familial Parkinson's Disease
Gene: ATXN3
ATXN3 (ataxin 3)
EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 is in 13 panels
2 reviews
Alice Gardham (Genomics England)
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 9:42 a.m.
Ellen McDonagh (Genomics England Curator)
This was submitted as "SCA3" by the expert.Created: 24 Jul 2015, 11:21 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert
- Phenotypes
-
- (CAGexpansion)
- Tags
- OMIM
- 607047
- Clinvar variants
- Variants in ATXN3
- Penetrance
- Complete
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Intellectual disability
- Hereditary ataxia
History Filter Activity
5 Dec 2016, Gel status: 0
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for ATXN3 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
24 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ATXN3 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Expert