TABLE 7.
List of common genes and patterns of inheritance associated with ACM.
Gene | Protein | Mode of inheritance | Disease association | OMIM# | Locus |
ACTC1 | Actin, alpha, cardiac muscle | AD | ACM, HCM, DCM, LVNC | 102540 | 5q31.1 |
ARVD3 | Arrhythmogenic right ventricular dysplasia, familial, 3 | AD | ACM | 602086 | 12p12.1 |
ARVD4 | Arrhythmogenic right ventricular dysplasia, familial, 4 | AD | ACM | 602087 | 15q14 |
ARVD6 | Arrhythmogenic right ventricular dysplasia, familial, 6 | AD | ACM | 604401 | 1q42-q43 |
CTNNA3 | Catenin alpha 3 | AD | ACM | 607667 | 7q21.2 |
DES | Desmin | AD, AR | ACM, RCM, DCM | 125660 | 17q21 |
DSC2 | Desmocollin 2 | AD, AR | ACM, DCM | 600271 | Xq22 |
DSG2 | Desmoglein 2 | AD | ACM, DCM | 125671 | 15q24.1 |
DSP | Desmoplakin | AD, AR | ACM, DCM | 125485 | 11p15.5 |
FLNC | Filamin C | AD | ACM, DMC, RCM, HCM | 102565 | 10q22.2 |
JUP | Junction plakoglobin | AD, AR | ACM | 173325 | 2p13.1 |
LDB3 | Lim domain-binding 3 | AD | ACM, HCM, DCM, LVNC | 605906 | 2p22.1 |
LMNA | Lamin A/C | AD, AR | ACM, HCM, DCM, LVNC | 150330 | 1q22 |
PKP2 | Plakophilin 2 | AD | ACM, DCM | 602861 | 11p15.4 |
PLN | Phospholamban | AD | ACM, HCM, DCM | 172405 | 4q12 |
RYR2 | Ryanodine receptor 2 (cardiac) | AD | ACM, HCM | 180902 | 12p11 |
SCN5A | Sodium channel, voltage-gated, type V, alpha subunit | AD | ACM, DCM | 600163 | 20q13.12 |
TGFB3 | Transforming growth factor beta 3 | AD | ACM | 190230 | |
TMEM43 | Transmembrane protein 43 | AD | ACM | 612048 | 10q23.3 |
TTN | Titin | AD, AR | ACM, HCM, DCM | 188840 | 5q33-q34 |
AD, autosomal dominant; AR autosomal recessive; OMIM, online mendelian inheritance in man.