Hereditary ataxia
Gene: ATXN7Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 4:39 p.m. | Last Modified: 5 Nov 2021, 4:39 p.m.
Panel Version: 1.258
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 9:50 a.m.
Comment on mode of pathogenicity: Trinucleotide repeatCreated: 21 Jul 2016, 7:46 a.m.
Comment when marking as ready: Trinucleotide repeat expansion currently not appropriateCreated: 11 Jul 2016, 4:55 a.m.
Repeat expansion. NOT APPROPRIATECreated: 24 Nov 2015, 4:57 p.m.
Phenotypes
Spinocerebellarataxia7,164500
Mode of pathogenicity
Other - please provide details in the comments
Phenotypes for gene: ATXN7 were changed from Spinocerebellarataxia7,164500 to Spinocerebellar ataxia 7, OMIM:164500
Mode of inheritance for gene: ATXN7 was changed from to Other
Mode of pathogenicity for ATXN7 was changed to Other - please provide details in the comments
Mode of pathogenicity for ATXN7 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).
This gene has been classified as Red List (Low Evidence).
ATXN7 was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing
ATXN7 was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
ATXN7 was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen