Inherited Cardiovascular Diseases and Sudden Death General Panel
Cardiomyopathies, channelopathies, congenital heart diseases, aortic vascular diseases, skeletal myopathy, pulmonary hypertension and familial dyslipidemias.
This panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases that can present sudden death as a major adverse event. 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. The genetic testing in these cases serves as a guide and should be complemented with an exhaustive family evaluation.
It includes all genes associated with cardiomyopathies and their differential diagnoses, cardiac arrhythmias, early atherosclerosis (dyslipidemias), 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).
ACTA2, ACTC1, ACVRL1, APOB, BAG3, BMPR2, BRAF, CACNA1C, CALM1, CALM2, CASQ2, COL3A1, DES, DMD, DSC2, DSG2, DSP, EMD, ENG, FBN1, FLNC, GLA, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KRAS, LAMP2, LDLR, LMNA, MYBPC3, MYH7, MYL2, MYL3, NKX2-5, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN10A, SCN5A, SOS1, TAZ, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, AARS2, ABCC9, ACAD9, ACADM, ACADVL, ACTA1, ACTN2, ADAMTSL4, AGK, AGL, AGPAT2, AKAP9, ALMS1, ANK2, ANKRD1, APOA5, APOC3, ATPAF2, BMPR1B, BSCL2, CACNA1D, CACNA2D1, CACNB2, CALR3, CAPN3, CAV1, CAV3, CBL, CBS, CETP, COL1A1, COL1A2, COL5A1, COL5A2, COQ2, COX15, COX6B1, CRELD1, CRYAB, CSRP3, CTNNA3, DLD, DNAJC19, DOLK, DTNA, ELN, EYA4, FAH, FBN2, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNA, FOXD4, GAA, GATA4, GATA6, GATAD1, GDF2, GFM1, GJA1, GJA5, GLB1, GNPTAB, GPD1L, GUSB, HCN4, HFE, HRAS, JAG1, JPH2, KCNA5, KCND3, KCNE1L, KCNE3, KCNJ5, KCNJ8, KCNK3, LAMA2, LAMA4, LDB3, LIAS, LRP6, MAP2K1, MAP2K2, MIB1, MLYCD, MRPL3, MRPS22, MTO1, MURC, MYH11, MYH6, MYLK, MYOT, MYOZ2, MYPN, NEBL, NEXN, NOTCH1, NOTCH3, NPPA, NRAS, PCSK9, PDHA1, PHKA1, PITX2, PLOD1, PMM2, PRDM16, PRKG1, PSEN1, PSEN2, RANGRF, SCN1B, SCN2B, SCN3B, SCN4B, SGCA, SGCB, SGCD, SHOC2, SKI, SLC22A5, SLC25A4, SLC2A10, SLMAP, SMAD1, SMAD3, SMAD4, SMAD9, SNTA1, SPRED1, SURF1, TBX1, TBX20, TBX5, TCAP, TGFB2, TGFB3, TMEM70, TMPO, TRDN, TRIM63, TRPM4, TSFM, TNXRD2, VCL, ANK3*, CTF1*, KLF10*, MYLK2*, OBSL1*, PDLIM3*