GC_3 Dilated Cardiomyopathy
Last update: 06.01.2026
ABCC6, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, APOA1, BAG3, BAG5, CASZ1, CHKB, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, EEF1A2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXO32, FHOD3, FKRP, FKTN, FLNC, FOXD4, GATA4, GATA6, GATAD1, GATC, GBE1, GLB1, GSK3B, HAMP, HAND1, HCN4, HFE, HJV, IDH2, ILK, JPH2, JUP, KLHL24, LAMA4, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MLYCD, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MTND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MTTG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYPN, NEXN, NKX2-5, NRAP, OBSCN, PCCA, PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPCS, PPP1R13L, PRDM16, PSEN1, PSEN2, QRSL1, RAF1, RBCK1, RBM20, RMND1, RPL3L, RYR2, SCN1B, SCN5A, SDHA, SGCD, SLC22A5, SLC40A1, SPEG, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TFR2, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TTN, TTR, VCL, VPS13A
ClinVar P/LP variants (IDs) not covered: DMD: [3235708]; [4292852]; [4277362]; [2637520] | MYBPC3: [3906261], [3376667]
GC_5 Hypertrophic cardiomyopathy
Last update: 06.01.2026
ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALPK3, ANKRD1, APOA1, ATAD3A, BAG3, BRAF, CACNA1C, CALR3, CAV3, CBL, COX15, CSRP3, DES, ELAC2, EPG5, FBXL4, FHL1, FHOD3, FLNC, FXN, GAA, GATA4, GLA, GSK3B, GYG1, HRAS, JPH2, KLF10, KLHL24, KRAS, LAMP2, LDB3, MAP2K1, MAP2K2, MIPEP, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MTTQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NDUFAF2, NEXN, PDLIM3, PLN, PRKAG2, PTPN11, RAF1, RIT1, RPS6KB1, RYR2, SLC25A4, SOS1, SPRED2, SVIL, TAFAZZIN, TBX20, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTN, TTR, TULP3, VCL
ClinVar P/LP variants (IDs) not covered: AGL:[4529480] | GLA:[1678527] | MYBPC3: [3906261], [3376667]
GC_6 Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Last update: 06.01.2026
ACTN2, ANK2, ANKRD1, BAG3, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, JUP, LDB3, LEMD2, LMNA, MYBPC3, MYH7, MYL3, NKX2-5, PDLIM3, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SCN5A, TGFB3, TJP1, TMEM43, TNNI3, TNNT2, TTN
ClinVar P/LP variants (IDs) not covered: MYBPC3:[3906261]; [3376667]
GC_13 Comprehensive Cardiomyopathy
Last update: 29.01.2026
ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, ATAD3A, BAG3, BAG5, BRAF, CACNA1C, CALR3, CASZ1, CAV3, CBL, CDH2, CHKB, CHRM2, COX15, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, EEF1A2, ELAC2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXL4, FBXO32, FHL1, FHOD3, FKRP, FKTN, FLNC, FOXD4, FXN, GAA, GATA4, GATA6, GATAD1, GATC, GBE1, GLA, GLB1, GSK3B, GYG1, HAMP, HAND1, HCN4, HFE, HJV, HRAS, IDH2, ILK, JPH2, JUP, KLF10, KLHL24, KRAS, LAMA4, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MAP2K1, MAP2K2, MIPEP, MLYCD, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTO1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYOM1, MYOZ2, MYPN, NDUFAF2, NEXN, NKX2-5, NRAP, OBSCN, PCCA, PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPA2, PPCS, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RBCK1, RBM20, RIT1, RMND1, RPL3L, RPS6KB1, RYR2, SCN1B, SCN5A, SDHA, SGCD, SLC22A5, SLC25A4, SLC40A1, SOS1, SPEG, SPRED2, SVIL, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TFR2, TGFB3, TJP1, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM63, TTN, TTR, TULP3, VCL, VPS13A
ClinVar P/LP variants (IDs) not covered: AGL:[4529480] | DMD: [3235708]; [4292852]; [4277362]; [2637520] | GLA:[1678527] | | MYBPC3:[3906261]; [3376667]
GC_16 RASopathy
RASopathies are a group of clinically and genetically heterogeneous disorders caused by dysregulation of the RAS/MAPK signaling pathway, which plays a central role in cell proliferation, differentiation, and embryonic development. Disruption of this pathway leads to a spectrum of syndromes, including Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, Noonan syndrome with multiple lentigines (LEOPARD syndrome), and Legius syndrome.
The Diagnostic Panel for RASopathies includes core pathway genes such as PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, MAP2K1, and MAP2K2. These genes encode proteins involved in intracellular signaling cascades that regulate developmental processes.
This panel is recommended for patients with clinical features suggestive of a RASopathy, particularly those with congenital heart defects (e.g., pulmonary valve stenosis or hypertrophic cardiomyopathy), characteristic facial features, short stature, developmental delay, lymphatic abnormalities, or multiple congenital anomalies.
Last update: 26.01.2026
ACTB, ACTG1, ARID2, BMP2, BRAF, CBL, CCNK, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAP4K4, MAPK1, MRAS, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, RREB1, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, SPRED2, STAMBP, SYNGAP1, TAB2, YWHAZ
ClinVar P/LP variants (IDs) not covered: NF1: [242478]; [3404745] | NF2: [3404989]
GC_20 Congenital heart defect
Last update: 19.01.2026
ABL1, ACTA2, ACTB, ACTC1, ACTG1, ACVR1, ACVR2B, ADAM17, ADAMTS10, ADAMTS17, ADAMTS19, ADNP, AFF4, ALMS1, AMMECR1, ANKRD1, ANKS6, ARHGAP31, ARID1A, ARID1B, B3GAT3, B3GLCT, BBS10, BCL9, BCOR, BMP10, BMPR2, BRAF, C12ORF57, C2CD3, CAPN15, CASZ1, CBL, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CDH2, CDK13, CDK9, CDKN1C, CEP290, CFAP298, CFAP53, CFC1, CHD4, CHD7, CHRD, CHRM2, CITED2, CREBBP, CRELD1, CRIPTO, CTC1, CTNND1, DHCR7, DLL4, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DOCK6, DRC1, DTNA, EFTUD2, EHMT1, EIF2AK4, ELN, ENG, EOGT, EP300, ETS1, EVC, EVC2, FBLN2, FGF8, FKTN, FLNA, FLT4, FOXC1, FOXF1, FOXH1, FOXP1, G6PC3, GAS8, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, GPC3, HAND1, HAND2, HAS2, HDAC8, HEY2, HNRNPK, HOXA1, HRAS, HYAL2, INVS, IRX4, ISL1, JAG1, KDM5A, KDM6A, KLF13, KMT2D, KRAS, KYNU, LEFTY2, LZTR1, MAP2K1, MAP2K2, MCIDAS, MED12, MED13L, MEGF8, MEIS2, MESP1, MID1, MKS1, MMP21, MYBPC3, MYCN, MYH11, MYH6, MYH7, MYO18B, MYRF, NAA15, NADSYN1, NEK8, NEXN, NF1, NFATC1, NIPBL, NKX2-5, NKX2-6, NME8, NODAL, NONO, NOTCH1, NOTCH2, NPHP3, NR2F2, NRAS, NRP1, NSD1, ODAD1, ODAD2, ODAD3, OFD1, PDGFRA, PIK3R2, PITX2, PKD1L1, PLD1, PPP1CB, PRDM6, PRKACA, PRKACB, PRKD1, PTPN11, PUF60, RAB23, RAF1, RBFOX2, RBM10, RECQL4, RERE, RIT1, RNF40, ROBO1, ROBO4, ROCK2, ROR2, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SALL4, SH3PXD2B, SHOC2, SHROOM3, SMAD1, SMAD2, SMAD6, SMAD7, SMARCB1, SMC1A, SMC3, SNAI1, SOS1, SOS2, SOX17, SOX7, SPAG1, SPEN, SPRED2, SRF, STAG2, STRA6, TAB2, TBX1, TBX20, TBX5, TFAP2B, TGDS, TLL1, TMEM94, TRAF7, TTC8, TWIST1, UBR1, USP34, VEGFA, WBP11, WDPCP, WDR5, ZEB2, ZFPM1, ZFPM2, ZIC3, ZMYM2, ZMYND10, ZNF423, ZNF699
ClinVar P/LP variants (IDs) not covered: ARID1B:[3378371] | CEP290:[3774377] | DNAI1:[4526740] | MYBPC3:[3906261]; [3376667] | NF1:[242478]; [3404745] | OFD1:[375728] | ZEB2:[3770192] | ZIC3:[3233415]
GC_26 Cardiac arrhythmia
Last update: 19.01.2026
ABCC9, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, BAG5, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, CTNNA3, DBH, DES, DSC2, DSG2, DSP, EMD, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, GPD1L, HADHA, HCN4, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, LDB3, LEMD2, LMNA, MYH6, MYH7, MYL4, NKX2-5, NOS1AP, NPPA, NUP155, PDLIM3, PKP2, PLN, PPA2, PRKAG2, RANGRF, RBM20, RYR2, SALL4, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLC12A3, SLC4A3, SLMAP, SNTA1, TANGO2, TBX5, TECRL, TGFB3, TMEM43, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN
GC_27 Long QT syndrome
Last update: 19.01.2026
AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, SCN4B, SCN5A, SLC12A3, SNTA1, TECRL, TRDN G
GC_31 Familial hyperlipidemia
Last update: 19.01.2026
ABCA1, ABCG5, ABCG8, ALMS1, ANGPTL3, APOA1, APOA4, APOA5, APOB, APOC2, APOC3, APOE, CETP, CREB3L3, CYP27A1, CYP7A1, GALNT2, GCKR, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LIPG, LIPI, LMF1, LPL, LRP6, MTTP, MYLIP, PCSK9, PNPLA2, SAR1B, SCARB1, ZHX3
GC_32 Arrhythmia and Cardiomyopathy Comprehensive Panel
Last update: 21.04.2025
ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, ATAD3A, BAG3, BAG5, BRAF, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CASZ1, CAV3, CBL, CDH2, CHKB, CHRM2, COX15, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DBH, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, EEF1A2, ELAC2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FBXL4, FBXO32, FHL1, FHOD3, FKRP, FKTN, FLNC, FOXD4, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GATC, GBE1, GJA5, GLA, GLB1, GNB5, GPD1L, GSK3B, GYG1, HADHA, HAMP, HAND1, HCN4, HFE, HJV, HRAS, IDH2, ILK, JPH2, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KLF10, KLHL24, KRAS, LAMA4, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MAP2K1, MAP2K2, MIPEP, MLYCD, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTO1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYOM1, MYOZ2, MYPN, NDUFAF2, NEXN, NKX2-5, NOS1AP, NPPA, NRAP, NUP155, OBSCN, PCCA, PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPA2, PPCS, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RANGRF, RBCK1, RBM20, RIT1, RMND1, RPL3L, RPS6KB1, RYR2, SALL4, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SLC12A3, SLC22A5, SLC25A4, SLC40A1, SLC4A3, SLMAP, SNTA1, SOS1, SPEG, SPRED2, TAB2, TAFAZZIN, TANGO2, TBX20, TBX5, TCAP, TECRL, TFR2, TGFB3, TJP1, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, TULP3, VCL, VPS13A
ClinVar P/LP variants (IDs) not covered: AGL:[4529480] | DMD: [3235708]; [4292852]; [4277362]; [2637520] | GLA:[1678527] | | MYBPC3:[3906261]; [3376667]
GC_70 Pulmonary hypertension
Last update: 07.01.2026
ABCC8, ACVRL1, AQP1, ATP13A3, BMP10, BMPR1A, BMPR1B, BMPR2, CAPNS1, CAV1, EIF2AK4, ENG, FBLN2, FOXF1, GDF2, GGCX, KCNA5, KCNK3, KDR, KLF2, KLK1, NFU1, NOTCH3, PDGFD, RASA1, SARS2, SMAD1, SMAD4, SMAD9, SOX17, STRA6, TBX4, TET2
ClinVar P/LP variants (IDs) not covered: SMAD4: [3445838]