Table 1

 Summary of genes and chromosomal loci for inherited cardiac arrhythmia syndromes

Subtype§GeneProtein/aliasesChromosomal locusInheritanceIonic current affectedEffect on currentReferencesOMOM¶
*Although mutations have been described in this gene in individuals with this disorder, genetic linkage to this locus has not yet been demonstrated.
†Although described only in sporadic patients, in vitro functional studies provide evidence for a dominant effect for the mutation.
‡All probands described carried the same de novo mutation with the exception of two siblings who inherited the mutation from their unaffected mother who was mosaic for the mutation.
§Subtypes numbered according to date of publication of finding.
¶Online Mendelian Inheritance in Man, Johns Hopkins University, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM (accessed March 2005).
SR, sarcoplasmic reticulum; VT, ventricular tachycardia.
Long QT syndromeLQT1 KCNQ1 KvLQT111p15.5Dominant I Ks w1 w2192500
LQT2 KCNH2 HERG7q35–q36Dominant I Kr w3 w4152427
LQT3 SCN5A Nav1.53p21Dominant I Na w3 w5603830
LQT4 ANK2 Ankyrin-B4q25–q27Dominantmiltiple3 w6600919
LQT5 KCNE1 minK, Isk21q22.1–q22.2*Dominant I Ks w7176261
LQT6 KCNE2 MiRP121q22.1*Dominant I Kr w8603796
LQT7 KCNJ2 kir2.1, IRK117q23.1–q24.2Dominant I K1 4170390
LQT8 CACNA1C Cav1.212p13.3*De novo‡ I Ca-L 5601005
JLN1 KCNQ1 KvLQT111p15.5Recessive I Ks w9–12220400
JLN2 KCNE1 minK, Isk21q22.1–q22.2*Recessive I Ks w13–15220400
Short QT syndromeSQT1 KCNH2 HERG7q35–q36*Dominant I Kr w16
SQT2 KCNQ1 KvLQT111p15.5*Unknown† I Ks w17
SQT3 KCNJ2 Kir2.1, IRK117q23.1–q24.2*Dominant I K1 w18
Brugada syndromeBS1 SCN5A Nav1.53p21Dominant I Na w19601144
BS2Unknown3p25–22Dominantw20
Catecholaminergic polymorphic VTCPVT1 RYR2 1q42.1–q43DominantSR Ca2+ releasew21–25604772
CPVT2 CASQ2 1p13.3–p11RecessiveSR Ca2+ releasew26 w27604772
Sick sinus syndromeSSS1 HCN4 15q24–q25*Unknown† I f w28
SSS2 SCN5A Nav1.53p21*Recessive I Na w29608567
Cardiac conduction diseaseCCD1Unknown19q13Dominantw30113900
CCD2 SCN5A Nav1.53p21Dominant I Na w31 w32113900
CCD3Unknown16q23–q24Dominantw33
Familial atrial fibrillation¶FAF1Unknown10q22–q24Dominantw34608583
FAF2 KCNQ1 KvLQT111p15.5Dominant I Ks w35607554
FAF3Unknown6q14–q16Dominantw36608988
FAF4 KCNE2 MiRP121q22.1*Dominant I K, background w37607554