This panel is mainly aimed at the diagnosis of cases where it is not possible to establish a clearly defined phenotype, but where cardiac arrhythmias are the main manifestation. It is mainly intended for subjects with personal or familial history of sudden death with unknown origin or subjects with ventricular fibrillation of unknown origin that meet the above-mentioned characteristics.
It includes all diseases that can produce arrhythmias (high predisposition to sudden death), either with or without the presence of structural heart disease. As such, it includes all cardiomyopathies, channelopathies, and cardiac conduction diseases.
It includes priority genes with a clear association with these diseases, secondary genes where the evidence is lower, and candidate genes gathered from a systematic literature review.
ACTC1, BAG3, BRAF, CACNA1C, CASQ2, DES, DMD, DSC2, DSG2, DSP, EMD, FLNC, GLA, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ8, KCNQ1, KRAS, LAMP2, LMNA, MYBPC3, MYH7, MYL2, MYL3, NF1, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN5A, SOS1, SOS2, TAZ, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTN2, AGK, AGL, AGPAT2, AKAP9, ALMS1, ANK2, ANKRD1, ANO5, ATP5E, ATPAF2, BSCL2, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CAV3, CHRM2, COA5, COA6, COL7A1, COQ2, COX15, COX6B1, CRYAB, CSRP3, CTNNA3, DLD, DNAJC19, DOLK, DTNA, ELAC2, EYA4, FAH, FHL1, FHL2, FHOD3, FKRP, FKTN, FOXD4, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GFM1, GJA1, GJA5, GLB1, GNPTAB, GPD1L, GUSB, HCN4, HFE, HRAS, JPH2, KCND2, KCND3, KCNE3, KCNE5, KCNJ5, KCNK17, LAMA2, LAMA4, LDB3, LDLR, LIAS, LZTR1, MAP2K1, MAP2K2, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MURC, MYH6, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NKX2-6, NNT, NRAS, OBSCN, PDHA1, PHKA1, PITX2, PMM2, PRDM16, PSEN1, PSEN2, RANGRF, RASA2, RIT1, RRAS, SCN10A, SCN2B, SCN3B, SCN4B, SCO2, SDHA, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLMAP, SNTA1, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TBX20, TBX5, TCAP, TGFB3, TMEM70, TMPO, TNNI3K, TOR1AIP1, TRDN, TRIM63, TRPM4, TSFM, TXNRD2, VCL, XK, ANK3*, CTNNB1*, DNM1L*, FGF12*, GATA5*, GREM2*, IDH2*, ILK*, IRX3*, KCNA5*, KCNK3*, KLF10*, MYH11*, MYLK2*, NOS1AP*, NOTCH1*, NPPA*, OBSL1*, OPA3*, PDLIM3*, PERP*, PKP4*, PPP1R13L*, PTRF*, SGCA*, SGCB*, ZFHX3*
Priority genes: These genes include >70% of the mutations that have been previously associated with the development of disease and/or their study is recommended in the guidelines. Secondary genes: Genes related to the disease. *Candidate genes: With no evidence, but likely to be related to the phenotype.