Table 2: Genes linked to Brugada syndrome.

TypeOMIMGeneProteinFunctional role in cardiomyocytesEffect of mutation

Autosomal dominant inheritance

BrS1#601144SCN5A Nav1.5α subunit of channelLoss of function of
BrS2#611777GPD1-L G3PD1LNot fully established Loss of function of
BrS3#611875CACNA1C Cav1.2 subunit of channelLoss of function of
BrS4#611876CACNB2b Cavβ2b subunit of channelLoss of function of
BrS5#612838SCN1B Navβ1β subunit of channelLoss of function of
BrS6#613119KCNE3 KCNE3 (MiRP2)β subunit of voltage-dependent K+ channelsGain of function of
BrS7#613120SCN3B Navβ3β subunit of channelLoss of function of
NC#613123HCN4 HCN4α subunit of channelGain of function of
NCCACNA2D1 Cavα 2δ-1α 2δ subunit of channelLoss of function of
NCMOG1 MOG1Regulates trafficking of Nav1.5 to the membraneLoss of function of
NCKCND3 Kv4.3α subunit of channelGain of function of
NCKCNE1L (KCNE5) KCNE1Lβ subunit of voltage-dependent K+ channelsGain of function of
NCKCNJ8 Kir6.1α subunit of channelGain of function of
NCSCN1Bb Navβ1Bβ subunit of channelLoss of function of and gain of function of

OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; BrS1–BrS7: Brugada syndrome types 1–7; NC: no consensus; : L-type calcium current; : hyperpolarization-activated current; : ATP-sensitive potassium current; : fast sodium current; : transient outward potassium current.