Hereditary ataxia

STR: TBP_CAG

Green List (high evidence)

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

TBP (TATA-box binding protein)
EnsemblGeneIds (GRCh38): ENSG00000112592
EnsemblGeneIds (GRCh37): ENSG00000112592
OMIM: 600075, Gene2Phenotype
TBP is in 13 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Created: 5 Dec 2018, 1:17 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Genomic coordinates for both builds have now been changed to that for the STR in the reference genome.
Created: 6 Jun 2018, 12:01 p.m.
Please note: The current genomic coordinates for Build 37 provided are for the TBP gene and not for the STR region. These will be replaced once the location is confirmed.
Created: 1 Jun 2018, 9:05 a.m.

Variants in this STR are reported as part of current diagnostic practice

Details

Name
TBP_CAG
Chromosome
6
GRCh37 Coordinates
170870996-170871109
GRCh38 Coordinates
170561908-170562021
Repeated Sequence
CAG
Normal Number of Repeats: < or =
41
Pathogenic Number of Repeats: = or >
49
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
STR
OMIM
600075
Clinvar variants
Variants in TBP
Penetrance
None
Publications

History Filter Activity

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: tbp_cag has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: tbp_cag has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 1

Changed Normal Number of Repeats

Arianna Tucci (Genomics England Curator)

Normal Number of Repeats for TBP_CAG was changed from 40 to 41.

6 Jun 2018, Gel status: 1

Changed GRCh37

Ellen McDonagh (Genomics England Curator)

GRCh37 position for TBP_CAG was changed from 170863390-170881958 to 170870996-170871109. Panel: Hereditary ataxia

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: TBP_CAG. Panel: Hereditary ataxia

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: TBP_CAG was added to Hereditary ataxia panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: TBP_CAG was created by Ellen McDonagh