Cardiomyopathies, Arrhythmias, and Sudden Death

Cardiomyopathies, Arrhythmias, and Sudden Death General Panel
[251 genes]

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.

Study requisition form
Informed consent
ACTC1 BAG3 CACNA1C CALM1 CALM2 CALM3 CASQ2 DES DMD DSC2
DSG2 DSP EMD FHL1 FHOD3 FLNC GLA JUP KCNE1 KCNE2
KCNH2 KCNJ2 KCNQ1 LAMP2 LMNA MYBPC3 MYH7 MYL2 MYL3 NKX2-5
PKP2 PLN PRKAG2 PTPN11 RBM20 RYR2 SCN5A TNNC1 TNNI3 TNNT2
TPM1 TRIM63 TTN TTR AARS2 ACAD9 ACADVL ACTA1 ACTN2 AGK
AGL AGPAT2 AKAP9 ALMS1 ALPK3 ANK2 ANO5 ATPAF2 CACNA1D CACNA2D1
CACNB2 CAV3 COA5 COA6 COQ2 COX15 COX6B1 CRYAB CSRP3 CTNNA3
DLD DNAJC19 DOLK DTNA EYA4 FAH FHL2 FKRP FKTN FOXRED1
GAA GATA4 GATA5 GATA6 GFM1 GJA5 GLB1 GNB2 GNPTAB GUSB
GYG1 HCN4 HFE HRAS IRX3 JPH2 KCND3 KCNE3 KCNE5 KCNJ5
KCNJ8 KLHL24 KRAS LAMA2 LDLR LIAS LZTR1 MAP2K1 MAP2K2 MLYCD
MRPL3 MRPL44 MRPS22 MTO1 MYBPHL MYOT MYOZ2 MYPN NF1 NRAS
PMM2 PPA2 PPCS PRDM16 QRSL1 RAF1 RIT1 SCN1B SCN2B SCO2
SDHA SGCD SGCG SHOC2 SLC22A5 SLC25A3 SNTA1 SOS1 SPEG SURF1
TAZ TBX20 TBX5 TCAP TECRL TMEM43 TMEM70 TNNI3K TRDN TRPM4
ZBTB17 A2ML1* ABCC9* AKT1* ANK3* ANKRD1* ATP5F1E* BRAF* BSCL2* C10orf71*
CALR* CALR3* CASZ1* CAVIN1* CAVIN4* CBL* CDH2* CHRM2* COL7A1* CTNNA1*
CTNNB1* DNM1L* ELAC2* FBXO32* FGF12* FXN* GATAD1* GJA1* GPD1L* GREM2*
GSK3B* IDH2* ILK* ISM2* JARID2* KAT6B* KCNA5* KCND2* KCNK17* KLF10*
LAMA4* LDB3* LMOD2* MAP3K8* MEF2C* MIB1* MYH6* MYLK2* MYOM1* NEBL*
NEXN* NKX2-6* NNT* NONO* NOS1AP* NOTCH1* NPPA* NRAP* OBSCN* OPA3*
PDHA1* PDLIM3* PERP* PHKA1* PITX2* PKD2* PKP4* PPP1CB* PPP1R13L* PSEN1*
PSEN2* RANGRF* RASA1* RASA2* RBM24* RRAS* SCN10A* SCN3B* SCN4B* SGCA*
SGCB* SLC25A4* SLMAP* SOS2* SPRED1* SPRY1* SYNE1* SYNE2* SYNGAP1* TGFB3*
TMEM175* TMOD1* TOR1AIP1* TRIM54* TSFM* TXNRD2* VCL* WISP1* WT1* XK*
ZFHX3*
Cardiomyopathies, Arrhythmias, and Sudden Death General Panel [251 genes]

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.

Study requisition form
Informed consent
ACTC1 BAG3 CACNA1C CALM1
CALM2 CALM3 CASQ2 DES
DMD DSC2 DSG2 DSP
EMD FHL1 FHOD3 FLNC
GLA JUP KCNE1 KCNE2
KCNH2 KCNJ2 KCNQ1 LAMP2
LMNA MYBPC3 MYH7 MYL2
MYL3 NKX2-5 PKP2 PLN
PRKAG2 PTPN11 RBM20 RYR2
SCN5A TNNC1 TNNI3 TNNT2
TPM1 TRIM63 TTN TTR
AARS2 ACAD9 ACADVL ACTA1
ACTN2 AGK AGL AGPAT2
AKAP9 ALMS1 ALPK3 ANK2
ANO5 ATPAF2 CACNA1D CACNA2D1
CACNB2 CAV3 COA5 COA6
COQ2 COX15 COX6B1 CRYAB
CSRP3 CTNNA3 DLD DNAJC19
DOLK DTNA EYA4 FAH
FHL2 FKRP FKTN FOXRED1
GAA GATA4 GATA5 GATA6
GFM1 GJA5 GLB1 GNB2
GNPTAB GUSB GYG1 HCN4
HFE HRAS IRX3 JPH2
KCND3 KCNE3 KCNE5 KCNJ5
KCNJ8 KLHL24 KRAS LAMA2
LDLR LIAS LZTR1 MAP2K1
MAP2K2 MLYCD MRPL3 MRPL44
MRPS22 MTO1 MYBPHL MYOT
MYOZ2 MYPN NF1 NRAS
PMM2 PPA2 PPCS PRDM16
QRSL1 RAF1 RIT1 SCN1B
SCN2B SCO2 SDHA SGCD
SGCG SHOC2 SLC22A5 SLC25A3
SNTA1 SOS1 SPEG SURF1
TAZ TBX20 TBX5 TCAP
TECRL TMEM43 TMEM70 TNNI3K
TRDN TRPM4 ZBTB17 A2ML1*
ABCC9* AKT1* ANK3* ANKRD1*
ATP5F1E* BRAF* BSCL2* C10orf71*
CALR* CALR3* CASZ1* CAVIN1*
CAVIN4* CBL* CDH2* CHRM2*
COL7A1* CTNNA1* CTNNB1* DNM1L*
ELAC2* FBXO32* FGF12* FXN*
GATAD1* GJA1* GPD1L* GREM2*
GSK3B* IDH2* ILK* ISM2*
JARID2* KAT6B* KCNA5* KCND2*
KCNK17* KLF10* LAMA4* LDB3*
LMOD2* MAP3K8* MEF2C* MIB1*
MYH6* MYLK2* MYOM1* NEBL*
NEXN* NKX2-6* NNT* NONO*
NOS1AP* NOTCH1* NPPA* NRAP*
OBSCN* OPA3* PDHA1* PDLIM3*
PERP* PHKA1* PITX2* PKD2*
PKP4* PPP1CB* PPP1R13L* PSEN1*
PSEN2* RANGRF* RASA1* RASA2*
RBM24* RRAS* SCN10A* SCN3B*
SCN4B* SGCA* SGCB* SLC25A4*
SLMAP* SOS2* SPRED1* SPRY1*
SYNE1* SYNE2* SYNGAP1* TGFB3*
TMEM175* TMOD1* TOR1AIP1* TRIM54*
TSFM* TXNRD2* VCL* WISP1*
WT1* XK* ZFHX3*
Nota genes
NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.

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.

  • 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.
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