![Health[in]Code](https://cardio.healthincode.com/wp-content/uploads/thegem-logos/logo_8a04d79684f354e27edeab88199c0c85_1x.png){kind=logo}
![Health[in]Code](https://cardio.healthincode.com/wp-content/uploads/thegem-logos/logo_dd919af28a4dfa9a5b74b42a46d9a0c6_1x.png){kind=logo}
Cardiomyopathies General Panel
[204 genes]
It includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases, and congenital heart diseases.
It includes priority genes, genes that have been clearly associated with the development of these diseases, secondary genes, which have been sporadically associated with them, as well as candidate genes gathered from a systematic review of the literature.
| ACTC1 | BAG3 | DES | DMD | DSC2 | DSG2 | DSP | EMD | FHL1 | FHOD3 |
| FLNC | GLA | JUP | LAMP2 | LMNA | MYBPC3 | MYH7 | MYL2 | MYL3 | NKX2-5 |
| PKP2 | PLN | PRKAG2 | PTPN11 | RBM20 | SCN5A | TNNC1 | TNNI3 | TNNT2 | TPM1 |
| TRIM63 | TTN | TTR | AARS2 | ACAD9 | ACADVL | ACTA1 | ACTN2 | AGK | AGL |
| AGPAT2 | ALMS1 | ALPK3 | ANO5 | ATPAF2 | CAV3 | COA5 | COA6 | COQ2 | COX15 |
| COX6B1 | CRYAB | CSRP3 | CTNNA3 | DLD | DNAJC19 | DOLK | DTNA | EYA4 | FAH |
| FHL2 | FKRP | FKTN | FOXRED1 | GAA | GATA4 | GATA5 | GATA6 | GFM1 | GLB1 |
| GNPTAB | GUSB | GYG1 | HCN4 | HFE | HRAS | JPH2 | KCNJ2 | KLHL24 | KRAS |
| LAMA2 | LIAS | LZTR1 | MAP2K1 | MAP2K2 | MLYCD | MRPL3 | MRPL44 | MRPS22 | MTO1 |
| MYBPHL | MYOT | MYOZ2 | MYPN | NF1 | NRAS | PMM2 | PPA2 | PPCS | PRDM16 |
| QRSL1 | RAF1 | RIT1 | RYR2 | SCO2 | SDHA | SGCD | SGCG | SHOC2 | SLC22A5 |
| SLC25A3 | SOS1 | SPEG | SURF1 | TAZ | TBX20 | TCAP | TMEM43 | TMEM70 | TNNI3K |
| ZBTB17 | A2ML1* | ABCC9* | AKT1* | ANK2* | ANKRD1* | ATP5F1E* | BRAF* | BSCL2* | C10orf71* |
| CACNA1C* | CALR3* | CASQ2* | CASZ1* | CAVIN4* | CBL* | CDH2* | CHRM2* | COL7A1* | CTNNA1* |
| CTNNB1* | DNM1L* | ELAC2* | FBXO32* | FXN* | GATAD1* | GSK3B* | IDH2* | ILK* | ISM2* |
| JARID2* | KAT6B* | KCNJ8* | KLF10* | LAMA4* | LDB3* | LMOD2* | MAP3K8* | MEF2C* | MIB1* |
| MYH6* | MYLK2* | MYOM1* | NEBL* | NEXN* | NNT* | NONO* | NOTCH1* | NRAP* | OBSCN* |
| OPA3* | PDHA1* | PDLIM3* | PERP* | PHKA1* | PKD2* | PKP4* | PPP1CB* | PPP1R13L* | PSEN1* |
| PSEN2* | RASA1* | RASA2* | RBM24* | RRAS* | SGCA* | SGCB* | SLC25A4* | SOS2* | SPRED1* |
| SPRY1* | SYNE1* | SYNE2* | SYNGAP1* | TGFB3* | TMOD1* | TOR1AIP1* | TRIM54* | TSFM* | TXNRD2* |
| VCL* | WISP1* | WT1* | XK* |
Cardiomyopathies general panel [204 genes]
It includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases, and congenital heart diseases.
It includes priority genes, genes that have been clearly associated with the development of these diseases, secondary genes, which have been sporadically associated with them, as well as candidate genes gathered from a systematic review of the literature.
| ACTC1 | BAG3 | DES | DMD |
| DSC2 | DSG2 | DSP | EMD |
| FHL1 | FHOD3 | FLNC | GLA |
| JUP | LAMP2 | LMNA | MYBPC3 |
| MYH7 | MYL2 | MYL3 | NKX2-5 |
| PKP2 | PLN | PRKAG2 | PTPN11 |
| RBM20 | SCN5A | TNNC1 | TNNI3 |
| TNNT2 | TPM1 | TRIM63 | TTN |
| TTR | AARS2 | ACAD9 | ACADVL |
| ACTA1 | ACTN2 | AGK | AGL |
| AGPAT2 | ALMS1 | ALPK3 | ANO5 |
| ATPAF2 | CAV3 | COA5 | COA6 |
| COQ2 | COX15 | COX6B1 | CRYAB |
| CSRP3 | CTNNA3 | DLD | DNAJC19 |
| DOLK | DTNA | EYA4 | FAH |
| FHL2 | FKRP | FKTN | FOXRED1 |
| GAA | GATA4 | GATA5 | GATA6 |
| GFM1 | GLB1 | GNPTAB | GUSB |
| GYG1 | HCN4 | HFE | HRAS |
| JPH2 | KCNJ2 | KLHL24 | KRAS |
| LAMA2 | LIAS | LZTR1 | MAP2K1 |
| MAP2K2 | MLYCD | MRPL3 | MRPL44 |
| MRPS22 | MTO1 | MYBPHL | MYOT |
| MYOZ2 | MYPN | NF1 | NRAS |
| PMM2 | PPA2 | PPCS | PRDM16 |
| QRSL1 | RAF1 | RIT1 | RYR2 |
| SCO2 | SDHA | SGCD | SGCG |
| SHOC2 | SLC22A5 | SLC25A3 | SOS1 |
| SPEG | SURF1 | TAZ | TBX20 |
| TCAP | TMEM43 | TMEM70 | TNNI3K |
| ZBTB17 | A2ML1* | ABCC9* | AKT1* |
| ANK2* | ANKRD1* | ATP5F1E* | BRAF* |
| BSCL2* | C10orf71* | CACNA1C* | CALR3* |
| CASQ2* | CASZ1* | CAVIN4* | CBL* |
| CDH2* | CHRM2* | COL7A1* | CTNNA1* |
| CTNNB1* | DNM1L* | ELAC2* | FBXO32* |
| FXN* | GATAD1* | GSK3B* | IDH2* |
| ILK* | ISM2* | JARID2* | KAT6B* |
| KCNJ8* | KLF10* | LAMA4* | LDB3* |
| LMOD2* | MAP3K8* | MEF2C* | MIB1* |
| MYH6* | MYLK2* | MYOM1* | NEBL* |
| NEXN* | NNT* | NONO* | NOTCH1* |
| NRAP* | OBSCN* | OPA3* | PDHA1* |
| PDLIM3* | PERP* | PHKA1* | PKD2* |
| PKP4* | PPP1CB* | PPP1R13L* | PSEN1* |
| PSEN2* | RASA1* | RASA2* | RBM24* |
| RRAS* | SGCA* | SGCB* | SLC25A4* |
| SOS2* | SPRED1* | SPRY1* | SYNE1* |
| SYNE2* | SYNGAP1* | TGFB3* | TMOD1* |
| TOR1AIP1* | TRIM54* | TSFM* | TXNRD2* |
| VCL* | WISP1* | WT1* | XK* |
It covers the entire spectrum of cardiomyopathy presentations (hypertrophic, dilated, restrictive, arrhythmogenic, and non-compaction). It also includes RASopathies, storage diseases, and some mitochondrial disorders of nuclear DNA origin, which may present a cardiomyopathy as one of the main manifestations.
- This panel is aimed at the diagnosis of cases presenting some degree of myocardial involvement, but where the phenotype is not completely clear or there are some diagnostic uncertainties.
- It should also be considered when there is overlapping between phenotypes either in the patient or in the family, which is not infrequent in clinical practice.
- It is useful since:
- The genetic study allows confirming the clinical suspicion and is also an important tool for differential diagnosis of the disease.
- Proper and correct diagnosis of the disease allows for risk stratification.
- When a pathogenic mutation is detected, it can be used as a predictive test. It is useful for genetic counseling, since it allows detecting carriers at risk who should undergo appropriate clinical monitoring.
