Hereditary ataxia
STR: TBP_CAGSTR 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: 1.298
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, 1:17 p.m.
Genomic coordinates for both builds have now been changed to that for the STR in the reference genome.Created: 6 Jun 2018, 12:01 p.m.
Please note: The current genomic coordinates for Build 37 provided are for the TBP gene and not for the STR region. These will be replaced once the location is confirmed.Created: 1 Jun 2018, 9:05 a.m.
Variants in this STR are reported as part of current diagnostic practice
Publications for STR: TBP_CAG were set to 20301611
Str: tbp_cag has been classified as Green List (High Evidence).
Source NHS GMS was added to STR: TBP_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136
Str: tbp_cag has been classified as Green List (High Evidence).
Str: tbp_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for TBP_CAG was changed from 40 to 41.
GRCh37 position for TBP_CAG was changed from 170863390-170881958 to 170870996-170871109. Panel: Hereditary ataxia
STR was added to STR: TBP_CAG. Panel: Hereditary ataxia
STR: TBP_CAG was added to Hereditary ataxia panel. Sources: Expert list
STR: TBP_CAG was created by Ellen McDonagh