Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
SCN4A Sodium channel, voltage-gated, type IV, alpha       | 17q23-q25.3 | * Sodium-channel myasthenia - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Severe foetal hypokinesia related to SCN4A - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) * Paramyotonia congenita of Von Eulenburg - PMC (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33)* Hyperkalemic periodic paralysis - HYPP (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33)* Potassium-aggravated myotonia - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33)* Myotonia potassium-aggravatd - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33)* Hyperkalemic periodic paralysis, type 2 - HOKPP2 (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33)* Myasthenic syndrome, acetazolamide-responsive - (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33)* Myasthenic syndrome, congenital, 16 - CMS16 (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33)* Congenital Myopathy 22A, classic - CMYP22A (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33)* Congenital Myopathy 22B, severe fetal - CMYP22B (3.48, 3.49, 7.3, 7.4, 7.6, 7.7, 11.24, 16.33) |