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Progressive cardiac conduction disease v2.6 SCN1B Arina Puzriakova Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific, OMIM:612838 to Cardiac conduction defect, nonspecific, OMIM:612838; Brugada syndrome 5, OMIM:612838; Atrial fibrillation, familial, 13, OMIM:615377
Progressive cardiac conduction disease v1.24 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific 612838 to Cardiac conduction defect, nonspecific, OMIM:612838
Progressive cardiac conduction disease v0.40 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from to Cardiac conduction defect, nonspecific 612838
Progressive cardiac conduction disease v0.39 SCN1B Ivone Leong Publications for gene: SCN1B were set to
Progressive cardiac conduction disease v0.30 SCN1B Ivone Leong reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.29 SCN1B Ivone Leong Source Expert Review Amber was added to SCN1B.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Progressive cardiac conduction disease v0.28 SCN1B James Eden reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 18464934; Phenotypes: Cardiac conduction defect, nonspecific 612838; Mode of inheritance: Unknown
Progressive cardiac conduction disease v0.28 SCN1B Matthew Edwards reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 18464934, 28878239, 25426816; Phenotypes: ; Mode of inheritance: None
Progressive cardiac conduction disease v0.18 SCN1B Rebecca Whittington commented on gene: SCN1B: Cardiac conduction defect, nonspecific (612838)
Progressive cardiac conduction disease v0.17 SCN1B Rebecca Whittington commented on gene: SCN1B: Pubmed: 25426816. Encodes beta1 subunit of Nav1.5. Variants identified in families with conduction alterations (and some cases Brugada). All variants found to decrease Nav1.5 - mediated channel in cellular expression system compared to controls. HGMD - 2 DM variants associated with PCCD on HGMD, however 1 reclassified as a VUS. Functional studies 28878239.
Progressive cardiac conduction disease v0.16 SCN1B Rebecca Whittington reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Progressive cardiac conduction disease v0.15 SCN1B Ellen McDonagh Source South West GLH was added to SCN1B.
Mode of inheritance for gene SCN1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Progressive cardiac conduction disease v0.14 SCN1B Ellen McDonagh reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.13 SCN1B Ellen McDonagh gene: SCN1B was added
gene: SCN1B was added to Progressive cardiac conduction disease. Sources: London South GLH
Mode of inheritance for gene: SCN1B was set to