Adult onset dystonia, chorea or related movement disorder
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: 1.166
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, 3:28 p.m. | Last Modified: 5 Aug 2019, 3:28 p.m.
Panel Version: 0.96
STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel.Created: 23 Apr 2019, 1:33 p.m.
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Brain channelopathy v1.48
Sources: Expert listCreated: 11 Jan 2019, 4:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17 607136
Publications
Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136; {Parkinson disease, susceptibility to}, OMIM:168600
Source NHS GMS was added to STR: TBP_CAG.
Source London North GLH was added to STR: TBP_CAG. Rating Changed from Green List (high evidence) to 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 Adult onset movement disorder. 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