This panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk.
It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.
It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.
As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).
Cardiomyopathies, channelopathies and cardiac arrhythmias, congenital heart diseases, aortic vascular diseases, skeletal myopathy, pulmonary hypertension, dyslipidemias and early atherosclerosis.
It includes all genes associated with cardiomyopathies and their differential diagnoses, cardiac arrhythmias, early atherosclerosis (dyslipemias), and aortic diseases. It includes priority genes with a clear association with these diseases, secondary genes where the evidence is lower, and candidate genes (interesting for research projects).
ACTC1, ACVRL1, APOB, BAG3, BMPR2, BRAF, CACNA1C, CASQ2, DES, DMD, DSC2, DSG2, DSP, ELN, EMD, ENG, FBN1, FLNC, GATA4, GLA, JAG1, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ8, KCNQ1, KRAS, LAMP2, LMNA, MYBPC3, MYH7, MYL2, MYL3, NF1, NKX2-5, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN5A, SOS1, SOS2, TAZ, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, A2ML1, AARS2, ABCA1, ABCB1, ABCC9, ABCG1, ABCG5, ABCG8, ACAD9, ACADVL, ACTA1, ACTA2, ACTN2, ACVR1, ACVR2B, ADAMTS2, ADAMTSL4, AGK, AGL, AGPAT2, AKAP9, AKT2, ALMS1, AMPD1, ANGPTL3, ANK2, ANKRD1, ANO5, APOA1, APOA5, APOC2, APOC3, APOE, ASPH, ATP5E, ATP7A, ATPAF2, B3GAT3, B4GALT7, BLK, BMP10, BMPR1A, BMPR1B, BSCL2, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CAV1, CAV3, CBL, CBS, CEL, CETP, CFC1, CH25H, CHD7, CHRM2, CHST14, CIDEC, CITED2, COA5, COA6, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL7A1, COQ2, COX15, COX6B1, CPT2, CREBBP, CRELD1, CRYAB, CSRP3, CTNNA3, CYP2D6, CYP3A4, CYP3A5, DLD, DNAJC19, DOLK, DTNA, EFEMP2, EHMT1, EIF2AK3, EIF2AK4, ELAC2, EP300, EVC, EYA4, FAH, FBN2, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLNA, FOXC1, FOXD4, FOXF1, FOXH1, FOXP1, FOXP3, FOXRED1, FXN, GAA, GATA5, GATA6, GATAD1, GCK, GDF1, GDF2, GFM1, GJA1, GJA5, GLB1, GLIS3, GNPTAB, GPD1, GPD1L, GPIHBP1, GUSB, HAND2, HCN4, HFE, HNF1A, HNF1B, HNF4A, HRAS, IER3IP1, INS, INSIG2, INSR, IRX4, ISL1, JPH2, KANSL1, KCND2, KCND3, KCNE5, KCNE3, KCNJ11, KCNJ5, KCNK17, KLF11, KMT2D, LAMA2, LAMA4, LCAT, LDB3, LDLRAP1, LEFTY2, LEP, LIAS, LIPA, LIPC, LMF1, LPA, LPL, LRP6, LZTR1, MAP2K1, MAP2K2, MCTP2, MED12, MED13L, MEF2A, MFAP5, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MTTP, MURC, MYH11, MYH6, MYLIP, MYLK, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEUROD1, NEUROG3, NEXN, NKX2-6, NNT, NODAL, NOTCH2, NOTCH3, NPC1L1, NPHP4, NRAS, OBSCN, PAX4, PCDH15, PCSK9, PDGFRA, PDHA1, PDX1, PHKA1 , PITX2, PLIN1, PLOD1, PLTP, PMM2, PNPLA2, PPARA, PPARG, PRDM16, PRKG1, PSEN1, PSEN2, PTF1A, PYGM, RANGRF, RASA1, RASA2, RFX6, RIT1, RRAS, RYR1, SALL4, SAR1B, SCARB1, SCN10A, SCN2B, SCN3B, SCN4B, SCO2, SDHA, SGCD, SHOC2, SKI, SLC22A5, SLC22A8, SLC25A3, SLC25A4, SLC25A40, SLC2A10, SLC2A2, SLC39A13, SLCO1B1, SLMAP, SMAD1, SMAD3, SMAD4, SMAD6, SMAD9, SNTA1, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TAB2, TBC1D4, TBX1, TBX20, TBX5, TCAP, TDGF1, TFAP2B, TGFB2, TGFB3, TGFBR1, TMEM70, TMPO, TNNI3K, TOPBP1, TOR1AIP1, TRDN, TRIB1, TRIM63, TRPM4, TSFM, TXNRD2, UPF3B , VCL, WFS1, XK, ZDHHC9, ZFPM2, ZIC3, ZMPSTE24, LDLR, ANK3*, CTNNB1*, DNM1L*, FGF12*, GREM2*, IDH2*, ILK*, IRX3*, KCNA5*, KCNK3*, KLF10*, 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.