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Panel general de Enfermedades Cardiovasculares
[405 genes]
Incluye todos los genes asociados con cardiomiopatías y sus diagnósticos diferenciales, arritmias cardíacas, dislipidemias familiares y enfermedades aórticas. Incluye genes prioritarios con una clara asociación con estas enfermedades, genes secundarios donde la evidencia es más baja, y los genes candidatos (interesante en proyectos de investigación).
| 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 |
| LDLR | 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 | AKT1 |
| AKT2 | ALMS1 | AMPD1 | ANGPTL3 | ANK2 | ANKRD1 | ANO5 | APOA1 | APOA5 | APOC2 |
| APOC3 | APOE | ASPH | ATP5F1E | ATP7A | ATPAF2 | B3GAT3 | B4GALT7 | BLK | BMP10 |
| BMPR1A | BMPR1B | BSCL2 | CACNA1D | CACNA2D1 | CACNB2 | CALM1 | CALM2 | CALM3 | CALR3 |
| CAV1 | CAV3 | CAVIN4 | 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 | 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 | KCNE3 | KCNE5 | 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 | 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 | SGCG | 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 | TECRL | TFAP2B | TGFB2 | TGFB3 | TGFBR1 | TMEM70 | TNNI3K | TOPBP1 |
| TOR1AIP1 | TRDN | TRIB1 | TRIM63 | TRPM4 | TSFM | TXNRD2 | UPF3B | VCL | WFS1 |
| XK | ZBTB17 | ZDHHC9 | ZFPM2 | ZIC3 | ZMPSTE24 | ANK3* | C10orf71* | CALR* | CASZ1* |
| CAVIN1* | CDH2* | CTNNA1* | CTNNB1* | DNM1L* | FBXO32* | FGF12* | GREM2* | GSK3B* | IDH2* |
| ILK* | IRX3* | ISM2* | JARID2* | KAT6B* | KCNA5* | KCNK3* | KLF10* | LMOD2* | MAP3K8* |
| MEF2C* | MYLK2* | NONO* | NOS1AP* | NOTCH1* | NPPA* | NRAP* | OPA3* | PDLIM3* | PERP* |
| PKD2* | PKP4* | PPP1CB* | PPP1R13L* | RBM24* | SGCA* | SGCB* | SPRY1* | SYNGAP1* | TMEM175* |
| TMOD1* | TRIM54* | WISP1* | WT1* | ZFHX3* |
Panel general de Enfermedades Cardiovasculares [405 genes]
Incluye todos los genes asociados con cardiomiopatías y sus diagnósticos diferenciales, arritmias cardíacas, dislipidemias familiares y enfermedades aórticas. Incluye genes prioritarios con una clara asociación con estas enfermedades, genes secundarios donde la evidencia es más baja, y los genes candidatos (interesante en proyectos de investigación).
| 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 | LDLR | 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 | AKT1 |
| AKT2 | ALMS1 | AMPD1 | ANGPTL3 |
| ANK2 | ANKRD1 | ANO5 | APOA1 |
| APOA5 | APOC2 | APOC3 | APOE |
| ASPH | ATP5F1E | ATP7A | ATPAF2 |
| B3GAT3 | B4GALT7 | BLK | BMP10 |
| BMPR1A | BMPR1B | BSCL2 | CACNA1D |
| CACNA2D1 | CACNB2 | CALM1 | CALM2 |
| CALM3 | CALR3 | CAV1 | CAV3 |
| CAVIN4 | 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 | 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 | KCNE3 | KCNE5 |
| 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 | 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 | SGCG | 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 |
| TECRL | TFAP2B | TGFB2 | TGFB3 |
| TGFBR1 | TMEM70 | TNNI3K | TOPBP1 |
| TOR1AIP1 | TRDN | TRIB1 | TRIM63 |
| TRPM4 | TSFM | TXNRD2 | UPF3B |
| VCL | WFS1 | XK | ZBTB17 |
| ZDHHC9 | ZFPM2 | ZIC3 | ZMPSTE24 |
| ANK3* | C10orf71* | CALR* | CASZ1* |
| CAVIN1* | CDH2* | CTNNA1* | CTNNB1* |
| DNM1L* | FBXO32* | FGF12* | GREM2* |
| GSK3B* | IDH2* | ILK* | IRX3* |
| ISM2* | JARID2* | KAT6B* | KCNA5* |
| KCNK3* | KLF10* | LMOD2* | MAP3K8* |
| MEF2C* | MYLK2* | NONO* | NOS1AP* |
| NOTCH1* | NPPA* | NRAP* | OPA3* |
| PDLIM3* | PERP* | PKD2* | PKP4* |
| PPP1CB* | PPP1R13L* | RBM24* | SGCA* |
| SGCB* | SPRY1* | SYNGAP1* | TMEM175* |
| TMOD1* | TRIM54* | WISP1* | WT1* |
| ZFHX3* |
Miocardiopatías, canalopatías y arritmias cardíacas, cardiopatías congénitas, enfermedades aórticas, miopatía esquelética, hipertensión pulmonar, dislipemias y aterosclerosis precoz.
- Este panel incluye todos los genes asociados o potencialmente asociados al desarrollo de enfermedades cardiovasculares hereditarias, al igual que genes que se asocian a un mayor riesgo cardiovascular global.
- Se trata de un grupo de enfermedades heterogéneas, y el estudio genético permite el diagnóstico diferencial entre las mismas. También es de utilidad cuando se sospecha una etiología multigénica.
- Debería considerarse cuando se quiere realizar un estudio exhaustivo de todos los genes relacionados con patología cardiovascular, especialmente en casos de muerte súbita en donde la información clínica o patológica es incompleta, o el diagnóstico no es claro.
- En cuanto a la investigación, es una opción atractiva frente a los exomas, ya que incluye tanto genes de probada patogenicidad como genes candidatos. El estudio asegura una máxima rentabilidad con adecuadas coberturas (lo que permite evaluar variantes estructurales, como grandes deleciones y duplicaciones).
