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Ataxia - adult onset

Gene: ATXN3

No list
ATXN3 (ataxin 3)
EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Created: 18 Apr 2020, 6:52 a.m. | Last Modified: 18 Apr 2020, 6:52 a.m.
Panel Version: 0.40
Adult onset ataxia: caused by an expansion of a (CAG)n repeat in the ATXN3 gene. In normal individuals, the gene contains between 13 and 36 CAG repeats, whereas most patients with clinically diagnosed MJD showed expansion of the repeat number in the range of 68 to 79 copies.
Sources: Expert list
Created: 18 Apr 2020, 6:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Machado-Joseph disease MIM#109150; spindocerebellar ataxia 3

Publications

Mode of pathogenicity
Other

Created: 18 Apr 2020, 6:52 a.m.

Panel version: 0.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Machado-Joseph disease MIM#109150
  • spindocerebellar ataxia 3
Tags
STR
OMIM
607047
Clinvar variants
Variants in ATXN3
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

28 Sep 2020, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atxn3 has been removed from the panel.

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atxn3 has been classified as Green List (High Evidence).

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atxn3 has been classified as Green List (High Evidence).

18 Apr 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: ATXN3 was added gene: ATXN3 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: ATXN3. Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN3 were set to 7874163 Phenotypes for gene: ATXN3 were set to Machado-Joseph disease MIM#109150; spindocerebellar ataxia 3 Mode of pathogenicity for gene: ATXN3 was set to Other Review for gene: ATXN3 was set to GREEN