Table 2 Arrhythmia-, inherited metabolic disease-, mitochondrial disease-, and salt-losing tubulopathy-related genes investigated in this study.

From: Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis

Arrhythmia

Brugada syndrome

SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, KCNH2, KCNJ8, CACN2D1, RANGRF, KCNE5, KCND3, HCN4, SLMAP, TRPM4, SCN2B, FGF12, SCN10A

Long QT syndrome

KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP9, SNTA1, KCNJ5, CALM1, CALM2

Short QT syndrome

KCNH2, KCNQ1, KCNJ2, CACNA1C, CACNB2, CACN2D1

PCCD

SCN5A, LMNA, EMD, SCN1B, TRPM4, GJA5

CPVT

RYR2, CASQ2, TRDN, CALM1, CALM2

ARVC

PKP2, DSC2, DSG2, JUP, DSP

Others

CAMK2D, CALM3, DES, DPP6, GJA1, GJC1, KCNA5, KCNE4, KCNIP2, KCNJ3, KCNK17, KCNN2, MYBPC3, MYH6, MYH7, NCS1, NKX2-5, NPPA, PLN, SLC8A1, TAZ, TBX3TBX5, TCAP

Inherited metabolic disease

Organic acid

ACAT1, AUH, ETFA, ETFB, ETFDH, GCDH, HLCS, HMGCL, HMGCS2, IVD, LMBRD1, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MUT, OPA3, PCCA, PCCB

Amino acid

ASL, ASS1, BCKDHA, BCKDHB, BCKDK, CBS, CPS1, DLD, DBT, MAT1A, NAGS, OTC, PAH, PCBD1, PTS, QDPR, SLC25A13

Fatty acid oxidation

ACADM, ACADVL, CPT1A, CPT2, HADHA, HADHB, SLC22A5, SLC25A20

Carbohydrate

GALE, GALK1, GALT

Others

ABCD4, BTD, DNAJC19, GCH1, HCFC1, HSD17B10, MTHFR, MTR, MTRR, SLC52A1, SLC52A2, SLC52A3, SLC5A6, SPR

Mitochondrial disease

OXPHOS system

NDUFA2, NDUFA9, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFA1, ACAD9, NDUFAF1, NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF6, FOXRED1, SDHA-D, SDHAF1, SDHAF2, UQCRB, UQCRQ, BCS1L, TTC19, COX6B1, NDUFA4, COX4I2, SURF1, SCO1, SCO2, COX10, COX15, LRPPRC, COA5, ATP5E, ATPAF2, TMEM70, COQ2, COQ4, COQ6, PDSS2, ETFDH, ADCK3

Mitochondrial translation

MRPS16, MRPS22, GFM1, TUFM, TSFM, PUS1, MTFMT, AARS2, DARS2, EARS2, GARS, MARS2, RARS2, SARS2, YARS2

Nucleotide maintenance

TYMP, RRM2B, SLC25A4, TK2, MPV17, DGUOK, SUCLA2, SUCLG1, DNA2, SLC25A3, GFER

Others

POLG, c10orf2, POLG2, OPA1, PINK1, DNM1L

Salt losing tubulopathy

BSND, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3

  1. PCCD: progressive cardiac conduction disturbance, CPVT: catecholaminergic polymorphic ventricular tachycardia, ARVC: arrhythmogenic right ventricular cardiomyopathy, OXPHOS: oxidative phosphorylation.
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