Table 4.
Gene | OMIM gene | Disease | OMIM disease | Inheritance | Function |
MYH7 | 160760 | LVNC5 | 613426 | AD | Beta heavy chain subunit of cardiac myosin |
MYBPC3 | 600958 | LVNC10 | 615396 | AD | Cardiac isoform of myosin-binding protein C found in cross-bridge-bearing zone (C region) of A bands |
TPM1 | 191010 | LVNC9 | 611878 | AD | Ca2+-dependent regulation of striated muscle contraction |
PRDM16 | 605557 | LVNC8 | 615373 | AD | Transcriptional cofactor essential for heart development |
MIB1 | 608677 | LVNC7 | 615092 | AD | Involved in heart looping process |
TNNT2 | 191045 | LVNC6 | 601494 | AD | Ca2+-dependent regulator of muscle contraction |
ACTC1 | 102540 | LVNC4 | 613424 | AD | Localized in muscle tissue contractile system |
LDB3 | 605906 | LVNC3 | 601493 | AD | Adapter protein in striated muscle; couples protein kinase C-mediated signaling to cytoskeleton |
DTNA | 601239 | LVNC1 | 604169 | AD | Component of dystrophin-associated protein complex; localized in sarcolemma |
LMNA | 150330 | LVNC | / | AD | Required for cardiac homeostasis |
SCN5A | 600163 | LVNC | / | AD | Mediates voltage-dependent Na+ permeability of excitable membranes |
HCN4 | 605206 | LVNC | / | AD | Necessary for heart pacemaking |
PLEKHM2 | 609613 | LVNC | / | AR | Regulates conventional kinesin activity |
PKP2 | 602861 | LVNC | / | AR | Plays a role in junctional plaques |
SOX6 | 607257 | LVNC | / | AR | Transcriptional activator required for maintenance of cardiac muscle cells |
MT-ND1 | 516000 | LVNC | / | MT | Core subunit of mitochondrial membrane respiratory chain NADH dehydrogenase |
LVNC=left ventricular noncompaction; AD=Autosomal dominant; AR=Autosomal recessive; MT=Mitochondrial.