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 (10.138, 10.167, 10.177, 10.187, 10.43)* Hereditary bundle branch system defect - HBBD (10.138, 10.167, 10.177, 10.187, 10.43)* Cardiac conduction defect, progressive - PCCD (10.138, 10.167, 10.177, 10.187, 10.43)* Brugada syndrome 1 - BRGDA1 (10.138, 10.167, 10.177, 10.187, 10.43)* Cardiomyopathy, dilated, 1E - CMD1E (10.138, 10.167, 10.177, 10.187, 10.43)* Ventricular fibrillation, idiopathic - IVF (10.138, 10.167, 10.177, 10.187, 10.43)* Ventricular fibrillation, paroxysmal familial - VF (10.138, 10.167, 10.177, 10.187, 10.43)* Long QT syndrome-3 - LQT3 (10.138, 10.167, 10.177, 10.187, 10.43)* Sick Sinus Syndrome 1, autosomal recessive - SSS1 (10.138, 10.167, 10.177, 10.187, 10.43)* Atrial fibrillation, 10 - ATFB10 (10.138, 10.167, 10.177, 10.187, 10.43) |