Paroxysmal central nervous system disorders
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: 1.32
An STR locus, are these to be included.Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97
Comment on list classification: Kept rating of TBP as Red following Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 23 Sep 2019, 4:05 p.m. | Last Modified: 23 Sep 2019, 4:05 p.m.
Panel Version: 0.100
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 3:57 p.m.
Panel Version: 0.98
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. This rating is for a gene (TBP) previously previously added to the panel by London North GLH. Suggested rating: Red.Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
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 to Other
Tag nucleotide-repeat-expansion tag was added to gene: TBP. Tag currently-ngs-unreportable tag was added to gene: TBP.
Phenotypes for gene: TBP were changed from to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600
Gene: tbp has been classified as Red List (Low Evidence).
Gene: tbp has been classified as Red List (Low Evidence).
Source NHS GMS was added to TBP.
gene: TBP was added gene: TBP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,London North GLH Mode of inheritance for gene: TBP was set to