Paroxysmal central nervous system disorders

STR: TBP_CAG

Red List (low 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 15 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Comment on list classification: Demoted STR from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel.
Created: 1 Oct 2019, 12:33 p.m. | Last Modified: 1 Oct 2019, 12:33 p.m.
Panel Version: 0.166
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: TBP_CAG. Suggested rating: ?; Comments provided: Triplet repeat.
Created: 1 Oct 2019, 10:30 a.m. | Last Modified: 1 Oct 2019, 10:30 a.m.
Panel Version: 0.157
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: TBP_CAG. Suggested rating: Red; Comments provided: None.
Created: 23 Sep 2019, 10:27 a.m. | Last Modified: 23 Sep 2019, 10:27 a.m.
Panel Version: 0.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Created: 11 Jan 2019, 5:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 17 607136

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
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
STR
OMIM
600075
Clinvar variants
Variants in TBP
Penetrance
None

History Filter Activity

1 Oct 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Str: tbp_cag has been classified as Red List (Low Evidence).

11 Jan 2019, 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).

11 Jan 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: TBP_CAG was added STR: TBP_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. 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 Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136 Review for STR: TBP_CAG was set to GREEN