Hereditary spastic paraplegia
STR: TBP_CAGGRCh37 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: 1.289
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 resultsCreated: 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: <
- 41
- Pathogenic Number of Repeats: = or >
- 49
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Spinocerebellar ataxia 17, OMIM:607136
- Tags
- OMIM
- 600075
- Clinvar variants
- Variants in TBP
- Penetrance
- None
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Str: tbp_cag has been classified as Green List (High Evidence).
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to STR: TBP_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
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
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136
Added Tag
Louise Daugherty (Genomics England Curator)Tag STR tag was added to STR: TBP_CAG.
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: tbp_cag has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: tbp_cag has been classified as Green List (High Evidence).
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