Adult onset neurodegenerative disorder
STR: TBP_CAGThe rating of this STR has been updated to green after review of STRs on panels that have moved to WGS in phase 2 and NHS Genomic Medicine Service approval.Created: 31 Jul 2023, 1:52 p.m. | Last Modified: 31 Jul 2023, 1:52 p.m.
Panel Version: 4.34
It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.Created: 29 Jun 2023, 4:16 p.m. | Last Modified: 29 Jun 2023, 4:22 p.m.
Panel Version: 4.28
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: 2.267
Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.Created: 6 Oct 2020, 10:35 a.m. | Last Modified: 6 Oct 2020, 10:35 a.m.
Panel Version: 2.19
Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment : Median age at onset 23 years, progressiveCreated: 23 Jul 2019, 5:04 p.m. | Last Modified: 23 Jul 2019, 5:04 p.m.
Panel Version: 1.75
Source PanelApp panels : Hereditary ataxia v1.148, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Brain channelopathy v1.46, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45
Sources: Expert listCreated: 20 Dec 2018, 2:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17 607136
Publications
Variants in this STR are reported as part of current diagnostic practice
Str: tbp_cag has been classified as Green List (High Evidence).
Tag watchlist was removed from STR: TBP_CAG. Tag Q3_23_promote_green was removed from STR: TBP_CAG.
Tag Q3_23_promote_green tag was added to STR: TBP_CAG.
Publications for STR: TBP_CAG were set to 20301611
Source NHS GMS was added to STR: TBP_CAG.
Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600
Tag watchlist tag was added to STR: TBP_CAG.
Str: tbp_cag has been classified as Amber List (Moderate Evidence).
Source Yorkshire and North East GLH was added to STR: TBP_CAG.
Louise Daugherty: Source PanelApp panels : Hered
Str: tbp_cag has been classified as Green List (High Evidence).
STR: TBP_CAG was added STR: TBP_CAG was added to Neurodegenerative disorders - 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