Progressive cardiac conduction disease

Gene: SCN5A

Green List (high evidence)

Comment on phenotypes: This gene is also associated with BUNDLE BRANCH BLOCK, Lenegre-Lev disease, CARDIAC CONDUCTION DEFECT, PROGRESSIVE

Created: 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

Green List (high evidence)

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

• 11804990
• 16643399
• 15466643
• 15372490

Green List (high evidence)

Associated with heart block, progessive and nonprogressive. Extensive evidence in the literature

Created: 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

Green List (high evidence)

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

I don't know

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.

Green List (high evidence)

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

I don't know

Sources: Expert list

Created: 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