Adult onset dystonia, chorea or related movement disorder
STR: PPP2R2B_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, 1:49 p.m. | Last Modified: 31 Jul 2023, 1:49 p.m.
Panel Version: 3.12
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, 4:37 p.m. | Last Modified: 29 Jun 2023, 4:37 p.m.
Panel Version: 3.4
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 3:43 p.m. | Last Modified: 15 Mar 2022, 3:43 p.m.
Panel Version: 1.166
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, 10:31 a.m. | Last Modified: 6 Oct 2020, 10:31 a.m.
Panel Version: 1.11
STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. 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: 0.95
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert listCreated: 11 Jan 2019, 4:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 12 604326
Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Tag watchlist was removed from STR: PPP2R2B_CAG. Tag Q3_23_promote_green was removed from STR: PPP2R2B_CAG.
Tag Q3_23_promote_green tag was added to STR: PPP2R2B_CAG.
Tag for-review was removed from STR: PPP2R2B_CAG.
Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326
Tag watchlist tag was added to STR: PPP2R2B_CAG.
Tag for-review tag was added to STR: PPP2R2B_CAG.
Str: ppp2r2b_cag has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to STR: PPP2R2B_CAG.
Str: ppp2r2b_cag has been classified as Green List (High Evidence).
STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: PPP2R2B_CAG. Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326 Review for STR: PPP2R2B_CAG was set to GREEN