Parkinson Disease and Complex Parkinsonism
Gene: ATXN3EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 is in 13 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, 4:30 p.m. | Last Modified: 5 Nov 2021, 4:30 p.m.
Panel Version: 1.77
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
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
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Machado-Joseph disease, OMIM:109150
- Susceptibility to Late-Onset Parkinson Disease
- 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
-
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATXN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATXN3 were changed from (CAGexpansion); familial parkinsonism to Machado-Joseph disease, OMIM:109150; Susceptibility to Late-Onset Parkinson Disease
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 ATXN3 were set to (CAGexpansion);familial parkinsonism
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)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
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).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Ellen McDonagh (Genomics England Curator)ATXN3 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ATXN3 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert