Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
SCN5A Voltage-gated sodium channel type V alpha       | 3p22.2 | * Progressive familial heart block, type I - PFHBI (10.125, 10.154, 10.164, 10.175, 10.41)* Hereditary bundle branch system defect - HBBD (10.125, 10.154, 10.164, 10.175, 10.41)* Cardiac conduction defect, progressive - PCCD (10.125, 10.154, 10.164, 10.175, 10.41)* Brugada syndrome - SCN5A (10.125, 10.154, 10.164, 10.175, 10.41)* Cardiomyopathy, dilated, 1E - CMD1E (10.125, 10.154, 10.164, 10.175, 10.41)* Ventricular fibrillation, idiopathic - IVF (10.125, 10.154, 10.164, 10.175, 10.41)* Ventricular fibrillation, paroxysmal familial - VF (10.125, 10.154, 10.164, 10.175, 10.41)* Long QT syndrome-3 - LQT3 (10.125, 10.154, 10.164, 10.175, 10.41)* Sick Sinus Syndrome 1, autosomal recessive - SSS1 (10.125, 10.154, 10.164, 10.175, 10.41)* Atrial fibrillation, 10 - ATFB10 (10.125, 10.154, 10.164, 10.175, 10.41) |