Table 1

Genes associated with ARVC

GeneLocusMIMGene IDProteinInheritance
CTNNA310q21.3 607667 29119αT-cateninAD
DES2q351256601674DesminAD
DSC218q211256451824Desmocollin-2AD
DSG218q12.11256711829Desmoglein-2AD/AR
DSP6p241256471832DesmoplakinAD/AR
JUP17q211733253728Junction plakoglobinAD/AR
LMNA1q221503304000Lamin A/CAD
PKP212p116090405318Plakophilin-2AD/AR
PLN6q22.11724055350PhospholambanAD
TGFΒ314q24.31902307043Transforming growth factor β 3AD
TMEM433p25.161204879188Transmembrane protein 43AD
TTN2q31.21888407273TitinAD
  • AD, autosomal dominant; AR, autosomal recessive; ARVC, arrhythmogenic right ventricular cardiomyopathy; MIM, Mendelian Inheritance in Man.