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Dystonia, chorea or related movement disorder, adult onset v3.11 CSTB_CCCCGCCCCGCG Eleanor Williams commented on STR: CSTB_CCCCGCCCCGCG
Dystonia, chorea or related movement disorder, adult onset v3.11 CSTB_CCCCGCCCCGCG Eleanor Williams Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v3.11 CSTB_CCCCGCCCCGCG Eleanor Williams Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, adult onset v3.10 CSTB_CCCCGCCCCGCG Eleanor Williams Tag watchlist was removed from STR: CSTB_CCCCGCCCCGCG.
Tag Q3_23_promote_green was removed from STR: CSTB_CCCCGCCCCGCG.
Dystonia, chorea or related movement disorder, adult onset v3.4 CSTB_CCCCGCCCCGCG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: CSTB_CCCCGCCCCGCG.
Dystonia, chorea or related movement disorder, adult onset v3.4 CSTB_CCCCGCCCCGCG Sarah Leigh edited their review of STR: CSTB_CCCCGCCCCGCG: Added comment: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.; Changed rating: GREEN
Dystonia, chorea or related movement disorder, adult onset v1.170 CSTB_CCCCGCCCCGCG Eleanor Williams Tag for-review was removed from STR: CSTB_CCCCGCCCCGCG.
Dystonia, chorea or related movement disorder, adult onset v1.166 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Dystonia, chorea or related movement disorder, adult onset v1.162 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Dystonia, chorea or related movement disorder, adult onset v1.140 CSTB_CCCCGCCCCGCG Arina Puzriakova 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
Dystonia, chorea or related movement disorder, adult onset v1.139 CSTB_CCCCGCCCCGCG Arina Puzriakova Tag watchlist tag was added to STR: CSTB_CCCCGCCCCGCG.
Dystonia, chorea or related movement disorder, adult onset v1.14 CSTB_CCCCGCCCCGCG Arina Puzriakova Tag for-review tag was added to STR: CSTB_CCCCGCCCCGCG.
Dystonia, chorea or related movement disorder, adult onset v1.10 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, adult onset v1.10 CSTB_CCCCGCCCCGCG Arina Puzriakova Added comment: 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.
Dystonia, chorea or related movement disorder, adult onset v1.10 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, adult onset v0.95 CSTB_CCCCGCCCCGCG Louise Daugherty Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Dystonia, chorea or related movement disorder, adult onset v0.94 CSTB_CCCCGCCCCGCG Louise Daugherty commented on STR: CSTB_CCCCGCCCCGCG: 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 Green
Dystonia, chorea or related movement disorder, adult onset v0.27 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v0.27 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, adult onset v0.26 CSTB_CCCCGCCCCGCG Louise Daugherty Chromosome for CSTB_CCCCGCCCCGCG was changed from 12 to 21. Panel: Adult onset movement disorder
Dystonia, chorea or related movement disorder, adult onset v0.25 CSTB_CCCCGCCCCGCG Louise Daugherty 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
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list