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Early-onset Parkinson disease

Gene: TBP

No list
TBP (TATA-box binding protein)
EnsemblGeneIds (GRCh38): ENSG00000112592
EnsemblGeneIds (GRCh37): ENSG00000112592
OMIM: 600075, Gene2Phenotype
TBP is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

This is an STR disorder.
Created: 19 Jul 2022, 8:14 a.m. | Last Modified: 19 Jul 2022, 8:14 a.m.
Panel Version: 0.144
Created: 19 Jul 2022, 8:14 a.m.
Last Modified: 19 Jul 2022, 8:14 a.m.
Panel version: 0.144

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 12:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar Ataxia 17; Parkinsonism; Chorea; Seizures; Psychosis; Dementia; OMIM 607136

Publications

Created: 17 Jul 2022, 12:42 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
Phenotypes
  • Spinocerebellar Ataxia 17
  • Parkinsonism
  • Chorea
  • Seizures
  • Psychosis
  • Dementia
  • OMIM 607136
Tags
STR
OMIM
600075
Clinvar variants
Variants in TBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2022, Gel status: 0

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbp has been removed from the panel.

19 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag STR tag was added to gene: TBP.

17 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: TBP was added gene: TBP was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBP were set to PMID: 27172828; 14638975; 11313753; 11914409 Phenotypes for gene: TBP were set to Spinocerebellar Ataxia 17; Parkinsonism; Chorea; Seizures; Psychosis; Dementia; OMIM 607136 Review for gene: TBP was set to GREEN