Cardiomyopathies panel

Cardiomyopathies Global 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 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.

Study requisition form
Informed consent
ACTC1BAG3DESDMDDSC2DSG2DSPEMDFHL1FHOD3
FLNCGLAJUPLAMP2LMNAMYBPC3MYH7MYL2MYL3NKX2-5
PKP2PLNPRKAG2PTPN11RBM20SCN5ATNNC1TNNI3TNNT2TPM1
TRIM63TTNTTRAARS2ACAD9ACADVLACTA1ACTN2AGKAGL
AGPAT2ALMS1ALPK3ANO5ATPAF2CAV3COA5COA6COQ2COX15
COX6B1CRYABCSRP3CTNNA3DLDDNAJC19DOLKDTNAEYA4FAH
FHL2FKRPFKTNFOXRED1GAAGATA4GATA5GATA6GFM1GLB1
GNPTABGUSBGYG1HCN4HFEHRASJPH2KCNJ2KLHL24KRAS
LAMA2LIASLZTR1MAP2K1MAP2K2MLYCDMRPL3MRPL44MRPS22MTO1
MYBPHLMYOTMYOZ2MYPNNF1NRASPMM2PPA2PPCSPRDM16
QRSL1RAF1RIT1RYR2SCO2SDHASGCDSGCGSHOC2SLC22A5
SLC25A3SOS1SPEGSURF1TAZTBX20TCAPTMEM43TMEM70TNNI3K
ZBTB17A2ML1*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 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 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.

Study requisition form
Informed consent
ACTC1BAG3DESDMD
DSC2DSG2DSPEMD
FHL1FHOD3FLNCGLA
JUPLAMP2LMNAMYBPC3
MYH7MYL2MYL3NKX2-5
PKP2PLNPRKAG2PTPN11
RBM20SCN5ATNNC1TNNI3
TNNT2TPM1TRIM63TTN
TTRAARS2ACAD9ACADVL
ACTA1ACTN2AGKAGL
AGPAT2ALMS1ALPK3ANO5
ATPAF2CAV3COA5COA6
COQ2COX15COX6B1CRYAB
CSRP3CTNNA3DLDDNAJC19
DOLKDTNAEYA4FAH
FHL2FKRPFKTNFOXRED1
GAAGATA4GATA5GATA6
GFM1GLB1GNPTABGUSB
GYG1HCN4HFEHRAS
JPH2KCNJ2KLHL24KRAS
LAMA2LIASLZTR1MAP2K1
MAP2K2MLYCDMRPL3MRPL44
MRPS22MTO1MYBPHLMYOT
MYOZ2MYPNNF1NRAS
PMM2PPA2PPCSPRDM16
QRSL1RAF1RIT1RYR2
SCO2SDHASGCDSGCG
SHOC2SLC22A5SLC25A3SOS1
SPEGSURF1TAZTBX20
TCAPTMEM43TMEM70TNNI3K
ZBTB17A2ML1*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*
Nota genes
NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.

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.

Este sitio web utiliza cookies para que usted tenga la mejor experiencia de usuario. Si continúa navegando está dando su consentimiento para la aceptación de las mencionadas cookies y la aceptación de nuestra política de cookies, pinche el enlace para mayor información.

ACEPTAR
Aviso de cookies