Adult onset dystonia, chorea or related movement disorder
STR: CSTB_CCCCGCCCCGCGThe 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, 1:48 p.m. | Last Modified: 31 Jul 2023, 1:48 p.m.
Panel Version: 3.11
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, 4:36 p.m. | Last Modified: 29 Jun 2023, 4:36 p.m.
Panel Version: 3.4
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:57 p.m. | Last Modified: 15 Mar 2022, 12:57 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: 1.10
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, 3:24 p.m. | Last Modified: 5 Aug 2019, 3:24 p.m.
Panel Version: 0.94
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism
Sources: Expert listCreated: 11 Jan 2019, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Tag watchlist was removed from STR: CSTB_CCCCGCCCCGCG. Tag Q3_23_promote_green was removed from STR: CSTB_CCCCGCCCCGCG.
Tag Q3_23_promote_green tag was added to STR: CSTB_CCCCGCCCCGCG.
Tag for-review was removed from STR: CSTB_CCCCGCCCCGCG.
Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Tag watchlist tag was added to STR: CSTB_CCCCGCCCCGCG.
Tag for-review tag was added to STR: CSTB_CCCCGCCCCGCG.
Str: cstb_ccccgccccgcg has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Chromosome for CSTB_CCCCGCCCCGCG was changed from 12 to 21. Panel: Adult onset movement disorder
STR: CSTB_CCCCGCCCCGCG was added STR: CSTB_CCCCGCCCCGCG was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: CSTB_CCCCGCCCCGCG. Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN