Adult onset dystonia, chorea or related movement disorder
Gene: TBPComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 4:34 p.m. | Last Modified: 10 Nov 2021, 4:34 p.m.
Panel Version: 1.152
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:52 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mohr-Tranebjaerg syndrome, 304700
Mode of pathogenicity
Other - 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 {Parkinson disease, susceptibility to}, 168600; Mohr-Tranebjaerg syndrome, 304700; Spinocerebellar ataxia 17, 607136 to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600
Tag nucleotide-repeat-expansion tag was added to gene: TBP. Tag currently-ngs-unreportable tag was added to gene: TBP.
Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TBP
Source NHS GMS was added to TBP.
Source South West GLH was added to TBP.
gene: TBP was added gene: TBP was added to Adult onset movement disorder. 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 {Parkinson disease, susceptibility to}, 168600; Spinocerebellar ataxia 17, 607136 Mode of pathogenicity for gene: TBP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments