Sudden cardiac death - previous panel
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
gene: SCN5A was added gene: SCN5A was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN5A were set to 20031634; 27761167; 16301704; 20186049; 27532257; 30420954; 19716085 Phenotypes for gene: SCN5A were set to Cardiomyopathy, dilated, 1E (601154); Brugada syndrome 1; Brugada syndrome 1 601144; Brugada syndrome 1 (601144); Ventricular fibrillation, familial, 1, 603829; Dilated cardiomyopathy; Ventricular fibrillation, familial, 1 (603829); Long QT syndrome; {Sudden infant death syndrome, susceptibility to} (272120); Long QT syndrome-3 (603830); Long QT syndrome-3; Paroxysmal Familial Ventricular Fibrillation; Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); Ventricular fibrillation, familial, 1,; Atrial fibrillation, familial, 10 (614022); Brugada syndrome; Cardiomyopathy, dilated, 1E; Arrhythmogenic right ventricular cardiomyopathy; Sick sinus syndrome 1 (608567)