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Adult onset neurodegenerative disorder

STR: TBP_CAG

Green List (high 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

4 reviews

Eleanor Williams (Genomics England Curator)

The rating of this STR has been updated to green after review of STRs on panels that have moved to WGS in phase 2 and NHS Genomic Medicine Service approval.
Created: 31 Jul 2023, 1:52 p.m. | Last Modified: 31 Jul 2023, 1:52 p.m.
Panel Version: 4.34
Created: 31 Jul 2023, 1:52 p.m.
Last Modified: 31 Jul 2023, 1:52 p.m.
Panel version: 4.34

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Created: 29 Jun 2023, 4:16 p.m. | Last Modified: 29 Jun 2023, 4:22 p.m.
Panel Version: 4.28
Created: 29 Jun 2023, 4:16 p.m.
Last Modified: 29 Jun 2023, 4:22 p.m.
Panel version: 4.28

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: 2.267
Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.
Created: 6 Oct 2020, 10:35 a.m. | Last Modified: 6 Oct 2020, 10:35 a.m.
Panel Version: 2.19
Created: 6 Oct 2020, 10:35 a.m.
Last Modified: 6 Oct 2020, 10:35 a.m.
Panel version: 2.267

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment : Median age at onset 23 years, progressive
Created: 23 Jul 2019, 5:04 p.m. | Last Modified: 23 Jul 2019, 5:04 p.m.
Panel Version: 1.75
Source PanelApp panels : Hereditary ataxia v1.148, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Brain channelopathy v1.46, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45
Sources: Expert list
Created: 20 Dec 2018, 2:07 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 17 607136

Publications

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

Created: 20 Dec 2018, 2:07 p.m.

Panel version: 1.75

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
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17, OMIM:607136
  • {Parkinson disease, susceptibility to}, OMIM:168600
Tags
STR
OMIM
600075
Clinvar variants
Variants in TBP
Penetrance
None
Publications

History Filter Activity

31 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

31 Jul 2023, Gel status: 2

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist was removed from STR: TBP_CAG. Tag Q3_23_promote_green was removed from STR: TBP_CAG.

29 Jun 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to STR: TBP_CAG.

13 Sep 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for STR: TBP_CAG were set to 20301611

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; {Parkinson disease, susceptibility to}, OMIM:168600

10 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to STR: TBP_CAG.

6 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).

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to STR: TBP_CAG.

25 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Hered

20 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).

20 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 Neurodegenerative disorders - adult onset. 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