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Ataxia - adult onset

Gene: ATXN8

No list
ATXN8 (ataxin 8)
OMIM: 613289, Gene2Phenotype
ATXN8 is in 2 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, 7:06 a.m. | Last Modified: 18 Apr 2020, 7:06 a.m.
Panel Version: 0.44
Adult onset cerebellar ataxia caused by expanded CAG repeat. Normal alleles contain 15 to 50 repeats, and pathogenic alleles contain 71 to 1,300 repeats.
Sources: Expert list
Created: 18 Apr 2020, 7:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 8 MIM#608768

Publications

Mode of pathogenicity
Other

Created: 18 Apr 2020, 7:06 a.m.

Panel version: 0.43

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 8 MIM#608768
Tags
STR
OMIM
613289
Clinvar variants
Variants in ATXN8
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: atxn8 has been removed from the panel.

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atxn8 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: atxn8 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: ATXN8 was added gene: ATXN8 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: ATXN8. Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN8 were set to 16804541 Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8 MIM#608768 Mode of pathogenicity for gene: ATXN8 was set to Other Review for gene: ATXN8 was set to GREEN