Abnormal heart morphology and function
Congenital heart defects (Structural heart defects) Panel (51 genes)
ACTC1, ACVR1, ACVR2B, BRAF, CFC1, CHD7, CITED2, CREBBP, CRELD1, EHMT1, ELN, EP300, FOXH1, FOXP1, GATA4, GATA6, GDF1, HRAS, IRX4, JAG1, KMT2D, KRAS, LEFTY2, MAP2K1, MAP2K2, MED13L, MYH11, MYH6, MYH7, NF1, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NPHP4, NRAS, PTPN11, RAF1, SALL4, SHOC2, SMAD6, SOS1, TAB2, TBX1, TBX20, TBX5, TDGF1, TFAP2B, ZFPM2, ZIC3
Heart defects Panel (extended) (474 Gene)
A2ML1, AARS2, ABCA1, ABCB4, ABCC6, ABCC8, ABCC9, ABCG5, ABCG8, ABL1, ACAD9, ACADVL, ACTA1, ACTA2, ACTC1, ACTG2, ACTN2, ACVR1, ACVR2B, ACVRL1, ADAMTS10, ADAMTS19, ADAMTS2, ADAMTSL4, AGK, AGL, AKAP9, AKT3, ALG10, ALG10B, ALMS1, ALPK3, ANK2, ANKRD1, ANO5, APOA1, APOA4, APOA5, APOB, APOC2, APOE, APP, AQP1, ARHGAP31, ARIH1, ARSB, ATAD3A, ATP13A3, ATP1A2, ATP5D, ATPAF2, BAG3, BGN, BMPR2, BRAF, CACNA1A, CACNA1C, CACNA1D, CACNA2D1, CACNA2D4, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CASQ2, CAV1, CAV3, CBL, CBS, CCDC11≙CFAP53, CCDC39, CCDC40, CCND2, CDH2, CETP, CFC1, CHD7, CHKB, CITED2, COA5, COA6, COL1A1, COL1A2, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COX10, COX14, COX15, COX20, COX6B1, COX7B, CPT1A, CPT2, CREB3L3, CREBBP, CRELD1, CRPPA, CRYAB, CSRP3, CTF1, CTNNA3, CTNND1, CYP27A1, DAG1, DBH, DCHS1, DES, DHCR7, DMD, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC19, DNAL1, DOCK6, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, DYSF, EFEMP2, EHMT1, EIF2AK4, ELN, EMD, ENG, ENPP1, EOGT, EP300, EPG5, ETFA, ETFB, ETFDH, EVC, EVC2, EYA4, FAH, FASTKD2, FBN1, FBN2, FBXO32, FGA, FHL1, FHL2, FHOD3, FKRP, FKTN, FLCN, FLII, FLNA, FLNC, FNIP1, FOXC1, FOXE3, FOXH1, FOXP1, FOXRED1, FTH1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GATD1, GBE1, GCKR, GDF1, GDF2, GFM1, GJA1, GJA5, GLA, GLB1, GLRA1, GMPPB, GNAI2, GNE, GPC3, GPD1, GPD1L, GPIHBP1, GSN, GUSB, HADHA, HADHB, HAMP, HCN4, HFE, HGSNAT, HJV, HRAS, HSPB8, HTRA1, HYAL2, IDH2, IDS, IDUA, ILK, INVS, IPO8, IRX4, JAG1, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KDM6A, KDR, KLF10, KMT2D, KRAS, LAMA2, LAMA4, LAMP2, LARGE≙LARGE1, LDB3, LDLR, LDLRAP1, LEFTY2, LIPA, LMF1, LMNA, LMOD1, LOX, LPL, LRPPRC, LTBP2, LYZ, LZTR1, MAP2K1, MAP2K2, MED12, MED13L, MFAP5, MGP, MIB1, MLYCD, MMACHC, MMP21, MRAS, MRPL44, MTO1, MURC, MUT, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYLK3, MYO6, MYOT, MYOZ2, MYPN, NAA15, NAGLU, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA4, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEBL, NEXN, NF1, NFU1, NIPBL, NKX2-5, NKX2-6, NME8, NODAL, NONO, NOS1AP, NOTCH1, NOTCH2, NOTCH3, NPHP4, NPPA, NR2F2, NRAP, NRAS, NSUN2, NUBPL, PCCA, PCCB, PCSK9, PDLIM3, PET100, PHOX2B, PIK3CA, PIK3R2, PITX2, PKD1L1, PKP2, PLD1, PLEC, PLEKHM2, PLN, PLOD1, PNPLA2, POMGNT1, POMT1, POMT2, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRKAG2, PRKAR1A, PRKD1, PRKG1, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA1, RASA2, RBM10, RBM20, RBPJ, RHBDF1, RIT1, ROBO4, RPL3L, RRAS, RRAS2, RYR1, RYR2, SALL1, SALL4, SARS2, SCD, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCNN1B, SCNN1G, SCO1, SCO2, SDHA, SDHAF1, SDHD, SEMA3E, SEPN1, SGCA, SGCB, SGCD, SGCG, SGSH, SHMT2, SHOC2, SHROOM3, SKI, SLC22A5, SLC25A20, SLC25A4, SLC2A10, SLC30A5, SLC40A1, SLC4A3, SLC6A6, SLMAP, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SMCHD1, SNTA1, SOS1, SOS2, SOX17, SPEG, SPRED1, SREBF2, STAMBP, SURF1, SYNE1, SYNE2, TAB2, TAZ, TBX1, TBX20, TBX3, TBX4, TBX5, TCAP, TDGF1, TECRL, TFAP2B, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TJP1, TLL1, TMEM126B, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TP63, TPM1, TRAF7, TRDN, TREX1, TRIM32, TRIM63, TRPM4, TSFM, TSPYL1, TTN, TTR, TXNRD2, UQCC2, VCL, VCP, XK, ZBTB17, ZEB2, ZFPM2, ZHX3 und ZIC3.
