Progressive cardiac conduction disease
Gene: SCN5A
Comment on phenotypes: This gene is also associated with BUNDLE BRANCH BLOCK, Lenegre-Lev disease, CARDIAC CONDUCTION DEFECT, PROGRESSIVECreated: 2 Mar 2021, 3:46 p.m. | Last Modified: 2 Mar 2021, 3:46 p.m.
Panel Version: 1.19
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Amber to Green as the group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Associated with conduction disease on HGMD and in the literature.Created: 25 Sep 2019, 2:25 p.m. | Last Modified: 25 Sep 2019, 2:25 p.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Heart block, nonprogressive 113900; Sick sinus syndrome 1 608567
Publications
Associated with heart block, progessive and nonprogressive. Extensive evidence in the literatureCreated: 23 Sep 2019, 1:40 p.m. | Last Modified: 23 Sep 2019, 1:40 p.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Heart block, nonprogressive (113900); Heart block, progressive, type IA (OMIM 113900)Created: 25 Mar 2019, 4:30 p.m.
Pubmed: 25426816. Main gene involved in PCCD. at least 16 distinct mutations in SCN5A have been found to cause conduction alterations and block in patients and their families. The vast majority of these mutations, when functionally characterized, reduced the sodium current, thereby leading to a loss of function consistent with the slowed cardiac conduction observed in patients.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.
Comment on list classification: Evidence (publications) required to promoted this gene to Green.Created: 25 Jan 2019, 11:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PROGRESSIVE FAMILIAL HEART BLOCK (113900); CARDIAC CONDUCTION DEFECT, PROGRESSIVE; BUNDLE BRANCH BLOCK; HEART BLOCK, PROGRESSIVE
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Sources: Expert listCreated: 24 Jan 2019, 12:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Heart block, progressive, type IA; Lenegre-Lev disease
Phenotypes for gene: SCN5A were changed from BUNDLE BRANCH BLOCK; HEART BLOCK, PROGRESSIVE; Lenegre-Lev disease; Heart block, progressive, type IA; CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PROGRESSIVE FAMILIAL HEART BLOCK (113900) to Heart block, progressive, OMIM:113900; Heart block, progressive, type IA, OMIM:113900
Publications for gene: SCN5A were set to
Source Expert Review Green was added to SCN5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source South West GLH was added to SCN5A.
Source London South GLH was added to SCN5A.
Gene: scn5a has been classified as Amber List (Moderate Evidence).
Gene: scn5a has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to SCN5A. Added phenotypes CARDIAC CONDUCTION DEFECT, PROGRESSIVE; HEART BLOCK, PROGRESSIVE; BUNDLE BRANCH BLOCK; PROGRESSIVE FAMILIAL HEART BLOCK (113900) for gene: SCN5A
gene: SCN5A was added gene: SCN5A was added to Progressive cardiac conduction disease. Sources: Expert list Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN5A were set to Heart block, progressive, type IA; Lenegre-Lev disease Review for gene: SCN5A was set to AMBER