Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates (5.35)
CASQ1 (1q21)
Calsequestrin 1 (fast-twitch, skeletal muscle) (M)



Ventricular fibrillation, idiopathic (10.125, 10.41, 10.163, 10.174, 10.153)
603829
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



Ventricular fibrillation, paroxysmal familial (10.125, 10.41, 10.163, 10.174, 10.153)
603829
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



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



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



Ventricular tachycardia, catecholaminergic polymorphic 6 (10.138, 10.122)
618782
CALM3 (19q13.32)
Calmodulin 3



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, 10.136)
614916
CALM1 (14q32.11)
Calmodulin 1



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



Vocal cord and pharyngeal distal myopathy (4.5, 12.64)
606070
MATR3 (5q31)
Matrin 3



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