Hereditary spastic paraplegia

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

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, 1:37 p.m.

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

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136

5 Dec 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag STR tag was added to STR: TBP_CAG.

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

Created, Added New Source, Set mode of inheritance

Arianna Tucci (Genomics England Curator)

STR: TBP_CAG was added STR: TBP_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: TBP_CAG was marked as current diagnostic