Adult onset neurodegenerative disorder
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: 2.237
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Point mutations not reportedCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 17, 607136; Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600; {Parkinson disease, susceptibility to}, 168600
Mode of pathogenicity for gene: TBP was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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; Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600; {Parkinson disease, susceptibility to}, 168600 to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600
Source NHS GMS was added to TBP.
Source Yorkshire and North East GLH was added to TBP.
Rebecca Foulger: Gene awaiting curator evaluati
Tag nucleotide-repeat-expansion tag was added to gene: TBP. Tag currently-ngs-unreportable tag was added to gene: TBP.
Added phenotypes Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 for gene: TBP
gene: TBP was added gene: TBP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBP were set to Spinocerebellar ataxia 17, 607136; {Parkinson disease, susceptibility to}, 168600