Molecular autopsy
Gene: SCN5A
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.
Gene currently tested on Manchester cardiac gene panel. 914 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with Brugada syndrome, association with long QT syndrome 3 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial fibrillation, familial, 10 (614022); Brugada syndrome 1 (601144); Cardiomyopathy, dilated, 1E (601154); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); Long QT syndrome-3 (603830); Sick sinus syndrome 1 (608567); Ventricular fibrillation, familial, 1 (603829); {Sudden infant death syndrome, susceptibility to} (272120)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to SCN5A.
Source North West GLH was added to SCN5A. Added phenotypes Ventricular fibrillation, familial, 1 (603829); Brugada syndrome 1 (601144); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); {Sudden infant death syndrome, susceptibility to} (272120); Sick sinus syndrome 1 (608567); Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022) for gene: SCN5A Publications for gene SCN5A were changed from 24317018; doi:10. 1007/ s12265-016-9673-5 to 27532257; 27761167; 20031634; 20186049; 16301704; 19716085; 30420954
Added phenotypes Ventricular fibrillation, familial, 1, 603829; Paroxysmal Familial Ventricular Fibrillation; Ventricular fibrillation, familial, 1, for gene: SCN5A
Added phenotypes Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy, dilated, 1E; Long QT syndrome; Brugada syndrome; Dilated cardiomyopathy for gene: SCN5A Publications for gene SCN5A were changed from doi:10. 1007/ s12265-016-9673-5; 28391114; 7889574; 29697308; 22490985 to 24317018; doi:10. 1007/ s12265-016-9673-5
gene: SCN5A was added gene: SCN5A was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN5A were set to doi:10. 1007/ s12265-016-9673-5; 28391114; 7889574; 29697308; 22490985 Phenotypes for gene: SCN5A were set to Brugada syndrome 1 601144; Brugada syndrome 1; Long QT syndrome-3