Brain channelopathy
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: 1.77
Comment when marking as ready: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 5 Dec 2018, 1:23 p.m.
Publications for STR: TBP_CAG were set to
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
Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136
Tag STR tag was added to STR: TBP_CAG.
Str: tbp_cag has been classified as Green List (High Evidence).
Str: tbp_cag has been classified as Red List (Low Evidence).
STR: TBP_CAG was added STR: TBP_CAG was added to Brain channelopathy. 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