Previous cardiomyopathies - including childhood onset
Gene: SCN5A
Atrial fibrillation, familial, 10 OMIM#614022; Brugada syndrome 1 OMIM#601144; Cardiomyopathy, dilated, 1E OMIM#601154; Heart block, nonprogressive OMIM#113900; Heart block, progressive, type IA OMIM#113900; Long QT syndrome-3 OMIM#603830; Sick sinus syndrome 1 OMIM#608567; Ventricular fibrillation, familial, 1 OMIM#603829 {Sudden infant death syndrome, susceptibility to} OMIM#272120Created: 25 Mar 2019, 4:30 p.m.
HGMD: Variant in our family reported 12 times to HGMD, with LQT and Brugada as well as DCM. 22 variants assoc with DCM reported to HGMD - 11 ?DM rest DM. Many with multiple literature evidence. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quotes 2-3% of DCM cases have an SCN5A variant) and Pugh (2014) Genet Med 16, 601. OMIM: records neonates and paediatric cases with sudden death due to arrhythmic episodes and sick sinus syndrome. Rare case of paediatric DCM with a variant in SCN5A reported by Olson JAMA. 2005 Jan 26;293(4):447-54.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source South West GLH was added to SCN5A. Mode of inheritance for gene SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Eleanor Williams: Comment on publications: Addin
Added phenotypes Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome; Brugada syndrome; Dilated cardiomyopathy for gene: SCN5A Publications for gene SCN5A were changed from 28391114 to 24317018; doi:10. 1007/ s12265-016-9673-5
gene: SCN5A was added gene: SCN5A was added to Cardiomyopathies - including childhood onset. 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 28391114 Phenotypes for gene: SCN5A were set to Cardiomyopathy, dilated, 1E