Hereditary ataxia
Gene: ATXN2Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 3:56 p.m. | Last Modified: 5 Nov 2021, 3:56 p.m.
Panel Version: 1.253
Added the 'currently-ngs-unreportable' and 'nucleotide-repeat-expansion' tags.Created: 30 Nov 2016, 4:50 p.m.
Comment on mode of pathogenicity: Trinucleotide expansion.Created: 21 Jul 2016, 7:45 a.m.
Comment when marking as ready: Good evidence, but trinucleotide expansion so exclude for nowCreated: 3 Jun 2016, 11:54 a.m.
Repeat expansion. NOT APPROPRIATECreated: 24 Nov 2015, 4:57 p.m.
Phenotypes
Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090
Mode of pathogenicity
Other - please provide details in the comments
Mode of inheritance for gene: ATXN2 was changed from to Other
Phenotypes for gene: ATXN2 were changed from Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090 to Spinocerebellar ataxia 2, OMIM:183090
Mode of pathogenicity for ATXN2 was changed to Other - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ATXN2 was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing
ATXN2 was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
ATXN2 was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen