Disease

Gene

ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

ACADVL (AR)

CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1

SCO2 (AR)

CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

MAP2K2 (AD)

CARDIOMYOPATHY, DILATED, 1A; CMD1A

LMNA (AD)

CARDIOMYOPATHY, DILATED, 1DD; CMD1DD

RBM20 (AD)

CARDIOMYOPATHY, DILATED, 1E; CMD1E

SCN5A (AD)

CARDIOMYOPATHY, DILATED, 1G; CMD1G

TTN (AD)

CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA

DSP (AD)

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

MYH7 (AD)

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2

TNNT2 (AD)

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4

MYBPC3 (AD)

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7

TNNI3 (AD)

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8

MYL3 (AD)

CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA

TAZ (XLR)

COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7

COQ4 (AR)

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

EMD (XLR)

HOLT-ORAM SYNDROME; HOS

TBX5 (AD)

LOEYS-DIETZ SYNDROME 1; LDS1

TGFBR2 (AD)

LONG QT SYNDROME 1; LQT1

KCNQ1 (AD)

LONG QT SYNDROME 2; LQT2

KCNH2 (AD)

LONG QT SYNDROME 8; LQT8

CACNA1C (AD)

MYOPATHY, MYOFIBRILLAR, 1; MFM1

DES (AD)

NOONAN SYNDROME 1; NS1

PTPN11 (AD)

TOTAL

23 GENES