Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates (5.32)
CASQ1 (1q21)
Calsequestrin 1 (fast-twitch, skeletal muscle) (M)



Ventricular fibrillation, idiopathic (10.123, 7.7, 10.41, 10.158, 10.168)
603829
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



Ventricular fibrillation, paroxysmal familial (10.123, 7.7, 10.41, 10.158, 10.168)
603829
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



ventricular tachycardia, catecholaminergic polymorphi (10.116)
604772
CASQ2 (1p13.3-p11)
Calsequestrin 2 (cardiac muscle)



Ventricular tachycardia, catecholaminergic polymorphic (10.104, 10.115)
604772
RYR2 (1q42.1-q43)
Ryanodine receptor 2



Ventricular tachycardia, catecholaminergic polymorphic, recessive (10.117)
614021
TECRL (4q13.1)
Trans-2,3-Enoyl-CoA Reductase-Like Protein



Ventricular tachycardia, catecholaminergic polymorphic, recessive (10.118, 10.134)
614916
CALM1 (14q32.11)
Calmodulin 1



Ventricular tachycardia, stress-induced polymorphic (10.104, 10.115)
604772
RYR2 (1q42.1-q43)
Ryanodine receptor 2



Vocal cord and pharyngeal distal myopathy (4.5, 12.58)
606070
MATR3 (5q31)
Matrin 3