This Panel is marked as Internal
Early onset and familial Parkinson's Disease
Gene: ATXN2
ATXN2 (ataxin 2)
EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 16 panels
1 review
Ellen McDonagh (Genomics England Curator)
This was submitted as "SCA2" 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
- 601517
- Clinvar variants
- Variants in ATXN2
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
24 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ATXN2 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Expert