This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: TBP
TBP (TATA-box binding protein)
EnsemblGeneIds (GRCh38): ENSG00000112592
EnsemblGeneIds (GRCh37): ENSG00000112592
OMIM: 600075, Gene2Phenotype
TBP is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000112592
EnsemblGeneIds (GRCh37): ENSG00000112592
OMIM: 600075, Gene2Phenotype
TBP is in 14 panels
1 review
Ellen McDonagh (Genomics England Curator)
"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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Spinocerebellar ataxia 17, 607136
- {Parkinson disease, susceptibility to}, 168600
- OMIM
- 600075
- Clinvar variants
- Variants in TBP
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Brain channelopathy
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
History Filter Activity
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TBP was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Radboud University Medical Center, Nijmegen
24 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TBP was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert