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Ataxia and cerebellar anomalies - narrow panel

STR: TBP_CAG

Amber List (moderate evidence)
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, 3:59 p.m. | Last Modified: 15 Mar 2022, 3:59 p.m.
Panel Version: 2.288
Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Created: 8 Oct 2020, 9:15 a.m. | Last Modified: 8 Oct 2020, 9:15 a.m.
Panel Version: 2.21
Created: 8 Oct 2020, 9:15 a.m.
Last Modified: 8 Oct 2020, 9:15 a.m.
Panel version: 2.288

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Created: 21 Dec 2018, 4:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 17 607136

Publications

Created: 21 Dec 2018, 4:49 p.m.

Panel version: 0.34

Details

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

History Filter Activity

13 Sep 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for STR: TBP_CAG were set to 20301611

8 Jun 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from STR: TBP_CAG.

10 Mar 2022, Gel status: 2

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to STR: TBP_CAG.

10 Nov 2021, Gel status: 2

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

10 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to STR: TBP_CAG.

8 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: tbp_cag has been classified as Amber List (Moderate Evidence).

8 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to STR: TBP_CAG.

9 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Hered

21 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2018, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: TBP_CAG was added STR: TBP_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list STR tags were added to STR: TBP_CAG. Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: TBP_CAG were set to 20301611 Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136 Review for STR: TBP_CAG was set to GREEN