Hereditary ataxia

Gene: TBP

Red List (low evidence)

TBP (TATA-box binding protein)
EnsemblGeneIds (GRCh38): ENSG00000112592
EnsemblGeneIds (GRCh37): ENSG00000112592
OMIM: 600075, Gene2Phenotype
TBP is in 15 panels

4 reviews

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 9:52 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Repeat expansion
Created: 21 Jul 2016, 7:47 a.m.

emma baple (Genomics England Curator)

Comment when marking as ready: Repeat expansion, so not included
Created: 3 Jun 2016, 12:10 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

I don't know

Repeat expansion. NOT APPROPRIATE
Created: 24 Nov 2015, 4:57 p.m.

Phenotypes
Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600

Mode of pathogenicity
Other - please provide details in the comments

Details

History Filter Activity

5 Dec 2016, Gel status: 1

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for TBP was changed to Other - please provide details in the comments

21 Jul 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for TBP was changed to Other - please provide details in the comments

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TBP was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TBP was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TBP was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen