This Panel is marked as Internal
Early onset and familial Parkinson's Disease
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
0 reviews
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spinocerebellar ataxia 17, 607136
- {Parkinson disease, susceptibility to}, 168600
- OMIM
- 600075
- Clinvar variants
- Variants in TBP
- Penetrance
- Complete
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Intellectual disability
- 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
History Filter Activity
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TBP was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen