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Ataxia - adult onset

Gene: ATXN2

No list
ATXN2 (ataxin 2)
EnsemblGeneIds (GRCh38): ENSG00000204842
EnsemblGeneIds (GRCh37): ENSG00000204842
OMIM: 601517, Gene2Phenotype
ATXN2 is in 5 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, 6:47 a.m. | Last Modified: 18 Apr 2020, 6:47 a.m.
Panel Version: 0.38
Mean age of onset of ataxia in third decade: (CAG)n repeat located in the 5-prime end of the coding region of the ATXN2 gene. SCA2 patient chromosomes usually contain expanded repeats ranging in size from 35 to 59 units.
Sources: Expert list
Created: 18 Apr 2020, 6:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 2 MIM#183090

Publications

Mode of pathogenicity
Other

Created: 18 Apr 2020, 6:47 a.m.

Panel version: 0.37

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 2 MIM#183090
Tags
STR
OMIM
601517
Clinvar variants
Variants in ATXN2
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: atxn2 has been removed from the panel.

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atxn2 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: atxn2 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: ATXN2 was added gene: ATXN2 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: ATXN2. Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN2 were set to 8896555; 8896556 Phenotypes for gene: ATXN2 were set to Spinocerebellar ataxia 2 MIM#183090 Mode of pathogenicity for gene: ATXN2 was set to Other Review for gene: ATXN2 was set to GREEN