Parkinson Disease and Complex Parkinsonism
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: 1.90
Monoallelic expansions cause SCA17, and may be responsible for a subset of familial parkinsonism, but loss-of-function and missense variants are not relevant in this geneCreated: 14 Dec 2016, 5:27 p.m.
Comment on list classification: Evidence for association with Spinocerebellarataxia 17 (OMIM 607136), which does include parkinsonism, however is caused by nucloetide expansion repeats therefore will currently remain red.Created: 3 Nov 2016, 6:12 p.m.
"SCA-17" was submitted on the expert list. TBP is the likely HGNC-approved symbol for this gene (SCA17 is a previous symbol).Created: 24 Jul 2015, 12:23 p.m.
Publications for gene: TBP were set to
Mode of inheritance for gene: TBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Phenotypes for gene: TBP were changed from Spinocerebellar ataxia 17, 607136; {Parkinson disease, susceptibility to}, 168600 to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600
Tag currently-ngs-unreportable tag was added to gene: TBP.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Red List (Low Evidence).
Mode of pathogenicity for TBP was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
TBP was added to Parkinson Disease and Complex Parkinsonismpanel. Source: Expert Model of inheritance for gene TBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TBP was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen
TBP was created by ellenmcdonagh