Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
CACNA1S Calcium channel, voltage-dependent, L type, alpha 1S subunit       | 1q32 | * Congenital myopathy with ophthalmoplegia related to CACNA1S - (1.24, 3.46, 3.54, 7.8, 8.5)* Hypokalemic periodic paralysis - CACNL1A3 (1.24, 3.46, 3.54, 3.54, 7.8, 8.5)* Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (1.24, 3.46, 3.54, 3.54, 7.8, 8.5)* Malignant hyperthermia susceptibility 5 - MHS5 (1.24, 3.46, 3.54, 3.54, 7.8, 8.5) |