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Ataxia - adult onset

Gene: TBP

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.
Created: 18 Apr 2020, 7:35 a.m. | Last Modified: 18 Apr 2020, 7:35 a.m.
Panel Version: 0.52
Ataxia caused by an abnormal (CAG)n expansion in TBP to a range of 47 to 55 repeats. Identified in Japanese families.
Sources: Expert list
Created: 18 Apr 2020, 7:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 17 MIM#607136

Publications

Mode of pathogenicity
Other

Created: 18 Apr 2020, 7:34 a.m.

Panel version: 0.51

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136
Tags
STR
OMIM
600075
Clinvar variants
Variants in TBP
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

28 Sep 2020, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tbp has been removed from the panel.

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tbp has been classified as Green List (High Evidence).

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tbp has been classified as Green List (High Evidence).

18 Apr 2020, Gel status: 1

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: TBP.

18 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TBP was added gene: TBP was added to Ataxia - adult onset. Sources: Expert list Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBP were set to 10484774; 11448935 Phenotypes for gene: TBP were set to Spinocerebellar ataxia 17 MIM#607136 Mode of pathogenicity for gene: TBP was set to Other Review for gene: TBP was set to GREEN