Cardiomyopathies General Panel
Hypertrophic (HCM), dilated (DCM), restrictive (RCM), arrhythmogenic (ACM), and non-compaction cardiomyopathy (NCC); it also includes RASopathies, storage diseases, and congenital heart diseases.
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 counselling, since it allows detecting carriers at risk who should undergo appropriate clinical monitoring.
It includes 149 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 that have a clear association with the development of these diseases. It also includes secondary genes, which have sporadically been associated to them, as well as candidate genes gathered from a systematic review of the literature.
ACTC1, BAG3, BRAF, DES, DMD, DSC2, DSG2, DSP, EMD, FLNC, GLA, JUP, KRAS, LAMP2, LMNA, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, SOS1, TAZ, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTA2, ACTN2, AGK, AGL, AGPAT2, ALMS1, ANK2, ANKRD1, ATPAF2, BSCL2, CALR3, CAV3, CBL, COQ2, COX15, COX6B1, CRELD1, CRYAB, CSRP3, CTNNA3, DLD, DNAJC19, DOLK, DTNA, ELN, EYA4, FAH, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNA, FOXD4, GAA, GATA4, GATA6, GATAD1, GFM1, GJA1, GJA5, GLB1, GNPTAB, GUSB, HCN4, HFE, HRAS, JAG1, JPH2, LAMA2, LAMA4, LDB3, LIAS, MAP2K1, MAP2K2, MIB1, MLYCD, MRPL3, MRPS22, MTO1, MURC, MYH6, MYOT, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NOTCH1, NRAS, PDHA1, PHKA1, PITX2, PMM2, PRDM16, PSEN1, PSEN2, RYR2, SCN5A, SGCD, SHOC2, SLC22A5, SLC25A4, SPRED1, SURF1, TBX1, TBX20, TBX5, TCAP, TGFB3, TMEM70, TMPO, TRIM63, TSFM, TXNRD2, VCL, CASQ2*, CTF1*, KCNH2*, KCNJ2*, KCNJ8*, KCNQ1*, KLF10*, MYH11*, MYLK2*, OBSL1*, PDLIM3*, SGCA*, SGCB*, SMAD3*