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Early onset or syndromic epilepsy v2.498 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Early onset or syndromic epilepsy v2.497 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Early onset or syndromic epilepsy v2.497 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v2.493 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset or syndromic epilepsy v2.462 CSTB Arina Puzriakova Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Early onset or syndromic epilepsy v2.461 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
Early onset or syndromic epilepsy v1.479 CSTB Rebecca Foulger Publications for gene: CSTB were set to
Early onset or syndromic epilepsy v1.478 CSTB Rebecca Foulger Phenotypes for gene: CSTB were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Early onset or syndromic epilepsy v1.192 CSTB_CCCCGCCCCGCG Rebecca Foulger Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Early onset or syndromic epilepsy v1.191 CSTB_CCCCGCCCCGCG Rebecca Foulger commented on STR: CSTB_CCCCGCCCCGCG
Early onset or syndromic epilepsy v1.191 CSTB Rebecca Foulger Source Wessex and West Midlands GLH was added to CSTB.
Early onset or syndromic epilepsy v1.190 CSTB Rebecca Foulger Source NHS GMS was added to CSTB.
Early onset or syndromic epilepsy v1.189 CSTB Rebecca Foulger reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 CSTB Tracy Lester reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 8596935, 17003839 ; Phenotypes: Epilepsy progressive myoclonic 1A (Unverricht and Lundborg), 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1488 CSTB_CCCCGCCCCGCG Arianna Tucci Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Early onset or syndromic epilepsy v0.1412 CSTB_CCCCGCCCCGCG Louise Daugherty Tag STR tag was added to STR: CSTB_CCCCGCCCCGCG.
Early onset or syndromic epilepsy v0.1409 CSTB_CCCCGCCCCGCG Arianna Tucci Marked STR: CSTB_CCCCGCCCCGCG as ready
Early onset or syndromic epilepsy v0.1409 CSTB_CCCCGCCCCGCG Arianna Tucci Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1409 CSTB_CCCCGCCCCGCG Arianna Tucci Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Early onset or syndromic epilepsy v0.1409 CSTB_CCCCGCCCCGCG Arianna Tucci Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1408 CSTB_CCCCGCCCCGCG Arianna Tucci STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Genetic epilepsy syndromes. Sources: Expert list
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert list
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Classified gene: CSTB as Green List (high evidence)
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Added comment: Comment on list classification: Changing rating to green in agreement with reviews
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Gene: cstb has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.505 CSTB Sarah Leigh Mode of inheritance for gene: CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.499 CSTB Sarah Leigh reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28378817, 21757863, 15329070, 9012407; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.499 CSTB Sarah Leigh Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Early onset or syndromic epilepsy CSTB Zornitza Stark reviewed gene: CSTB
Early onset or syndromic epilepsy CSTB Sarah Leigh Added gene to panel