Parkinson Disease and Complex Parkinsonism
Gene: ATXN3Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 4:30 p.m. | Last Modified: 5 Nov 2021, 4:30 p.m.
Panel Version: 1.77
SCA3 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 STRs are reportable.Created: 8 Dec 2016, 3:40 p.m.
Comment on list classification: As nucleotide repeats cause Machado-Joseph disease, and loss-of-function and missense variants in this gene are not disease-causing, this should remain red.Created: 2 Nov 2016, 5:16 p.m.
This was submitted as "SCA3" by the expert.Created: 24 Jul 2015, 11:21 a.m.
Mode of inheritance for gene: ATXN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Phenotypes for gene: ATXN3 were changed from (CAGexpansion); familial parkinsonism to Machado-Joseph disease, OMIM:109150; Susceptibility to Late-Onset Parkinson Disease
19th Dec 2016: panel revised according to expert review and further curation.
Phenotypes for ATXN3 were set to (CAGexpansion);familial parkinsonism
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
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ATXN3 was created by ellenmcdonagh
ATXN3 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert