Hereditary ataxia with onset in adulthood
STR: TBP_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 4 p.m. | Last Modified: 15 Mar 2022, 4 p.m.
Panel Version: 2.147
Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR GreenCreated: 5 Aug 2019, 3:15 p.m. | Last Modified: 5 Aug 2019, 3:15 p.m.
Panel Version: 1.194
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Comment: SCa17 expansionCreated: 27 Apr 2019, 9:35 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Associated with CAG expansions. Requires STR calling - no evidence for SNVs. Note that median onset described as 23 in OMIM so 'childhood' onset possible. Do you report variants in this gene as part of your current diagnostic practice? NoCreated: 14 Apr 2019, 4:12 p.m.
Source PanelApp panels : Hereditary ataxia v1.148;Brain channelopathy v1.46
Sources: Expert listCreated: 21 Dec 2018, 1:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17 607136
Publications
Publications for STR: TBP_CAG were set to 20301611
Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136
Source London North GLH was added to STR: TBP_CAG.
Source Wessex and West Midlands GLH was added to STR: TBP_CAG.
Source NHS GMS was added to STR: TBP_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Louise Daugherty: Source PanelApp panels : Hered
Str: tbp_cag has been classified as Green List (High Evidence).
Str: tbp_cag has been classified as Green List (High Evidence).
STR: TBP_CAG was added STR: TBP_CAG was added to Hereditary ataxia - adult 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 Publications for STR: TBP_CAG were set to 20301611 Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136 Review for STR: TBP_CAG was set to GREEN