Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |