Progressive cardiac conduction disease
Gene: SCN1B
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Red to Amber as the group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Limited association with conduction disease in the literature.Created: 25 Sep 2019, 2:55 p.m. | Last Modified: 25 Sep 2019, 2:55 p.m.
Panel Version: 0.28
Mode of inheritance
Unknown
Phenotypes
Cardiac conduction defect, nonspecific 612838
Publications
Some variants described in literature, but not enough to rate this green at the momentCreated: 23 Sep 2019, 1:37 p.m. | Last Modified: 23 Sep 2019, 1:37 p.m.
Panel Version: 0.28
Publications
Cardiac conduction defect, nonspecific (612838)Created: 25 Mar 2019, 4:30 p.m.
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.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
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
Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific 612838 to Cardiac conduction defect, nonspecific, OMIM:612838
Phenotypes for gene: SCN1B were changed from to Cardiac conduction defect, nonspecific 612838
Publications for gene: SCN1B were set to
Source Expert Review Amber was added to SCN1B. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source South West GLH was added to SCN1B. Mode of inheritance for gene SCN1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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