Parkinson Disease and Complex Parkinsonism
Gene: ATXN2Comment 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
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
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.
Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Mode of inheritance for gene: ATXN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Phenotypes for gene: ATXN2 were changed from (CAGexpansion); familial parkinsonism to {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
19th Dec 2016: panel revised according to expert review and further curation.
Phenotypes for ATXN2 were set to (CAGexpansion);familial parkinsonism
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
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of pathogenicity for ATXN2 was changed to Other - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
ATXN2 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert
ATXN2 was created by ellenmcdonagh