Dystonia - childhood onset

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 14 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Created: 21 Dec 2018, 5:36 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

9 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Brain

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 Phenotypes

Louise Daugherty (Genomics England Curator)

STR: TBP_CAG was added STR: TBP_CAG was added to Dystonia - childhood 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 Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136 Review for STR: TBP_CAG was set to GREEN