Parkinson Disease and Complex Parkinsonism
Gene: ATXN2EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 16 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 3:32 p.m. | Last Modified: 5 Nov 2021, 3:32 p.m.
Panel Version: 1.74
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
SCA2 expansions may be responsible for a subset of familial parkinsonism, but loss-of-function and missense variants are not relevant in this geneCreated: 14 Dec 2016, 5:27 p.m.
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Would want to promote this to green when STR reporting is possible.Created: 8 Dec 2016, 3:40 p.m.
Comment on list classification: Expansion repeats may be associated with susceptibility to late-onset Parkinson disease, and the configuration of repeats contributes to the phenotype displayed. As loss-of-function and missense variants are not relevant in this gene, this shoudl remain red.Created: 2 Nov 2016, 5:12 p.m.
This was submitted as "SCA2" by the expert.Created: 24 Jul 2015, 11:21 a.m.
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
- Tags
- OMIM
- 601517
- Clinvar variants
- Variants in ATXN2
- 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
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia
- Amyotrophic lateral sclerosis/motor neuron disease
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATXN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATXN2 were changed from (CAGexpansion); familial parkinsonism to {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and further curation.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ATXN2 were set to (CAGexpansion);familial parkinsonism
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ATXN2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ATXN2 was changed to Other - please provide details in the comments
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ATXN2 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert
Created
Ellen McDonagh (Genomics England Curator)ATXN2 was created by ellenmcdonagh