CARDIOMYOPATHY EXOME PANEL Cardiomyopathy Associated Phenotypes Gene Inheritance OMIM Other Phenotypes HCM DCM ARVC LVNC RCM CPVT Atrial fibrillation, familial, 12 (AD); Hypertrichotic ABCC9 AD X osteochondrodysplasia (AD); Cantu syndrome (AD) ACTC1 AD X X X X Atrial septal defect 5 ACTN2 AD X X X ANKRD1 UNKN X X BAG3 AD X X X Myopathy, myofibrillar, 6 (AD) AD/AR X X CAV3 AD X X Long QT syndrome 9 (AD) Myopathy, distal, Tateyama type (AD) CHRM2 AD X CRYAB UNKN X Myopathy, myofibrillar (AD/AR) CSRP3 AD X X Myopathy with HCM (AD) Muscular dystrophy, limb-girdle, type 2R (AD); Myopathy, DES AD X X X myofibrillar, 1C (AR) Becker muscular dystrophy; Duchenne muscular dystrophy; DMD XL X Female carriers may develop isolated DCM
CARDIOMYOPATHY EXOME PANEL Gene Inheritance OMIM Cardiomyopathy Associated Phenotypes Other Phenotypes HCM DCM ARVC LVNC RCM CPVT ABCC9 AD X Atrial fibrillation, familial, 12 (AD); Hypertrichotic osteochondrodysplasia (AD); Cantu syndrome (AD) ACTC1 AD X X X X Atrial septal defect 5 ACTN2 AD X X X ANKRD1 UNKN X X BAG3 AD X X X Myopathy, myofibrillar, 6 (AD) AD/AR X X CAV3 AD X X Long QT syndrome 9 (AD) Myopathy, distal, Tateyama type (AD) CHRM2 AD X CRYAB UNKN X Myopathy, myofibrillar (AD/AR) CSRP3 AD X X Myopathy with HCM (AD) DES AD X X X Muscular dystrophy, limb-girdle, type 2R (AD); Myopathy, myofibrillar, 1C (AR) DMD XL X Becker muscular dystrophy; Duchenne muscular dystrophy; Female carriers may develop isolated DCM
CARDIOMYOPATHY-EXOME-PANEL-List.docx