Hereditary ataxia
Gene: TBPComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 4:33 p.m. | Last Modified: 10 Nov 2021, 4:33 p.m.
Panel Version: 1.273
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 9:52 a.m.
Comment on mode of pathogenicity: Repeat expansionCreated: 21 Jul 2016, 7:47 a.m.
Comment when marking as ready: Repeat expansion, so not includedCreated: 3 Jun 2016, 12:10 p.m.
Repeat expansion. NOT APPROPRIATECreated: 24 Nov 2015, 4:57 p.m.
Phenotypes
Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600
Mode of pathogenicity
Other - please provide details in the comments
Mode of inheritance for gene: TBP was changed from to Other
Phenotypes for gene: TBP were changed from Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 to Spinocerebellar ataxia 17, OMIM:607136
Mode of pathogenicity for TBP was changed to Other - please provide details in the comments
Mode of pathogenicity for TBP 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).
TBP was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing
TBP was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
TBP was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen