Hereditary ataxia
Gene: ATN1Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 4 Nov 2021, 5:05 p.m. | Last Modified: 4 Nov 2021, 5:05 p.m.
Panel Version: 1.246
Comment on mode of inheritance: Nucleotide repeat expansion. Tagged 1.12.16 by Alice GardhamCreated: 1 Dec 2016, 4:04 p.m.
Comment on mode of pathogenicity: Added 'currently-NGS-unreportable' tag.Created: 30 Nov 2016, 5:10 p.m.
Comment when marking as ready: good evidence, but trinucleotide repeat so currently not appropriateCreated: 11 Jul 2016, 4:14 a.m.
DRPLA, repeat expansion. NOT APPROPRIATECreated: 24 Nov 2015, 4:57 p.m.
Mode of pathogenicity
Other - please provide details in the comments
Phenotypes for gene: ATN1 were changed from to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Mode of inheritance for gene: ATN1 was changed from Other - please specifiy in evaluation comments to Other
Mode of inheritance for ATN1 was changed to Other - please specifiy in evaluation comments
Mode of pathogenicity for ATN1 was changed to Other - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
ATN1 was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing