Adult onset neurodegenerative disorder
STR: CSTB_CCCCGCCCCGCGComment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test GroupCreated: 8 Oct 2020, 9:28 a.m. | Last Modified: 8 Oct 2020, 9:28 a.m.
Panel Version: 2.27
Red 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 NOT reported as part of the current diagnostic practice.Created: 23 Jul 2019, 4:55 p.m. | Last Modified: 23 Jul 2019, 4:55 p.m.
Panel Version: 1.75
Source PanelApp panels : Brain channelopathy v1.48, Hereditary ataxia v1.150.
Sources: Expert listCreated: 21 Dec 2018, 9:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
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. Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
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.
Str: cstb_ccccgccccgcg has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to STR: CSTB_CCCCGCCCCGCG.
Source Yorkshire and North East GLH was added to STR: CSTB_CCCCGCCCCGCG.
Louise Daugherty: Source PanelApp panels : Brain
Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
STR: CSTB_CCCCGCCCCGCG was added STR: CSTB_CCCCGCCCCGCG was added to Neurodegenerative disorders - adult onset. 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