Hereditary ataxia with onset in adulthood
STR: TBP_CAG

Chromosome: 6
GRCh37 Position: 170870996-170871109
GRCh38 Position: 170561908-170562021
Repeated Sequence: CAG
Normal Number of Repeats: < 41
Pathogenic Number of Repeats: = or > 49

TBP (TATA-box binding protein)
EnsemblGeneIds (GRCh38): ENSG00000112592
EnsemblGeneIds (GRCh37): ENSG00000112592
OMIM: 600075, Gene2Phenotype
TBP is in 0 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 4 p.m. | Last Modified: 15 Mar 2022, 4 p.m.

Panel Version: 2.147

Created: 15 Mar 2022, 4 p.m.
Last Modified: 15 Mar 2022, 4 p.m.
Panel version: 2.147

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:15 p.m. | Last Modified: 5 Aug 2019, 3:15 p.m.

Panel Version: 1.194

Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Comment: SCa17 expansion
Created: 27 Apr 2019, 9:35 p.m.

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Associated with CAG expansions. Requires STR calling - no evidence for SNVs. Note that median onset described as 23 in OMIM so 'childhood' onset possible. Do you report variants in this gene as part of your current diagnostic practice? No
Created: 14 Apr 2019, 4:12 p.m.

Source PanelApp panels : Hereditary ataxia v1.148;Brain channelopathy v1.46
Sources: Expert list
Created: 21 Dec 2018, 1:25 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 17 607136

Publications

20301611

Created: 21 Dec 2018, 1:25 p.m.

Panel version: 1.194

Details

Name

TBP_CAG

Chromosome

GRCh37 Coordinates

170870996-170871109

GRCh38 Coordinates

170561908-170562021

Repeated Sequence

CAG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

London North GLH
Wessex and West Midlands GLH
NHS GMS
Expert Review Green
Expert list

Phenotypes

Spinocerebellar ataxia 17, OMIM:607136

Tags

STR

OMIM

600075

Clinvar variants

Variants in TBP

Penetrance

None

Publications

History Filter Activity

13 Sep 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for STR: TBP_CAG were set to 20301611

10 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136

7 Jul 2019, Gel status: 3