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Ataxia - adult onset

Gene: ATXN1

No list
ATXN1 (ataxin 1)
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 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, 3:43 a.m. | Last Modified: 18 Apr 2020, 3:43 a.m.
Panel Version: 0.36
Adult onset ataxia.
From OMIM: The cause of spinocerebellar ataxia-1 is an expansion of a (CAG)n repeat in the gene encoding ataxin-1 located on 6p. Alleles with 36 to 38 triplets were present in individuals with ataxia but without additional characteristic features of SCA1. SCA1 phenotypes were found for patients with 41 and 43 triplets.
Sources: Expert list
Created: 18 Apr 2020, 3:40 a.m. | Last Modified: 18 Apr 2020, 3:44 a.m.
Panel Version: 0.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 1 MIM#164400

Publications

Mode of pathogenicity
Other

Created: 18 Apr 2020, 3:40 a.m.
Last Modified: 18 Apr 2020, 3:44 a.m.
Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 1 MIM#164400
Tags
STR
OMIM
601556
Clinvar variants
Variants in ATXN1
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: atxn1 has been removed from the panel.

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atxn1 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: atxn1 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: ATXN1 was added gene: ATXN1 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: ATXN1. Mode of inheritance for gene: ATXN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN1 were set to 8358429; 11973625 Phenotypes for gene: ATXN1 were set to Spinocerebellar ataxia 1 MIM#164400 Mode of pathogenicity for gene: ATXN1 was set to Other Review for gene: ATXN1 was set to GREEN