Paroxysmal central nervous system disorders
Gene: TBPEnsemblGeneIds (GRCh38): ENSG00000112592
EnsemblGeneIds (GRCh37): ENSG00000112592
OMIM: 600075, Gene2Phenotype
TBP is in 14 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
Robyn Labrum (UCLH NHS Trust)
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
Penny Clouston (Oxford)
Rebecca Foulger (Genomics England curator)
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
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Phenotypes
-
- Spinocerebellar ataxia 17, OMIM:607136
- {Parkinson disease, susceptibility to}, OMIM:168600
- Tags
- OMIM
- 600075
- Clinvar variants
- Variants in TBP
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Brain channelopathy
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia
- Paroxysmal central nervous system disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
History Filter Activity
Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)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
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: TBP was changed from to Other
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: TBP. Tag currently-ngs-unreportable tag was added to gene: TBP.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TBP were changed from to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: tbp has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: tbp has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to TBP.
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)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