Gen-Panel
Hypertrophe Kardiomyopathie (HCM, CMH): ID007.05, 56 Gene
ABCC9,
ACTC1,
ACTN2,
ALPK3,
ANKRD1,
BAG3,
CACNA1C,
CALR3,
CAV3,
CORIN,
CRYAB,
CSRP3,
DES,
DSP,
FHL1,
FHOD3,
FLNC,
GAA,
GLA,
JPH2,
KLF10,
KLHL24,
KRAS,
LAMP2,
LDB3,
MAP2K1,
MRAS,
MYBPC3,
MYH6,
MYH7,
MYL2,
MYL3,
MYLK2,
MYOM1,
MYOZ2,
MYPN,
NEXN,
OBSCN,
PDLIM3,
PLN,
PRKAG2,
PTPN11,
RAF1,
RIT1,
RYR2,
SLC25A4,
TCAP,
TMPO,
TNNC1,
TNNI3,
TNNT2,
TPM1,
TRIM63,
TTN,
TTR,
VCL
HPO Terms
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Interstitial cardiac fibrosis, Increased left ventricular end-diastolic volume, Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Myocardial late gadolinium enhancement, Reduced left ventricular ejection fraction, Systolic anterior motion of the mitral valve, Atrial fibrillation, Ventricular tachycardia, Arrhythmia, Ventricular arrhythmia, Sudden cardiac death, Syncope, Diastolic dysfunction, Ventricular septal hypertrophy, Prolonged QT interval, Abnormal heart valve morphology
