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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 v1.141 CSTB Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Dystonia, chorea or related movement disorder, adult onset v1.141 CSTB Arina Puzriakova Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
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 Str: cstb_ccccgccccgcg has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, adult onset v0.101 CSTB Louise Daugherty Source Expert Review Red was added to CSTB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Dystonia, chorea or related movement disorder, adult onset v0.100 CSTB Louise Daugherty commented on gene: CSTB: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Dystonia, chorea or related movement disorder, adult onset v0.99 CSTB Louise Daugherty commented on gene: CSTB: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Dystonia, chorea or related movement disorder, adult onset v0.98 CSTB James Polke commented on gene: CSTB: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Progressive myoclonic epilepsy - most dodecmer expansion
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 v0.54 CSTB Louise Daugherty reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.53 CSTB James Polke reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.52 CSTB Louise Daugherty Source NHS GMS was added to CSTB.
Dystonia, chorea or related movement disorder, adult onset v0.51 CSTB Louise Daugherty Source London North GLH was added to CSTB.
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
Dystonia, chorea or related movement disorder, adult onset v0.2 CSTB Ellen McDonagh gene: CSTB was added
gene: CSTB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 26843564
Phenotypes for gene: CSTB were set to microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800