Gen-Panel
Kardiale Arrhythmien, umfassende Diagnostik: ID026.03, 71 Gene
ABCC9,
AKAP9,
ALG10B,
ANK2,
CACNA1C,
CACNA2D1,
CACNB2,
CALM1,
CALM2,
CALM3,
CASQ2,
CAV3,
CDH2,
CTNNA3,
DES,
DPP6,
DSC2,
DSG2,
DSP,
EMD,
FGF12,
GJA5,
GNB2,
GNB5,
GPD1L,
HCN4,
JPH2,
JUP,
KCNA5,
KCND2,
KCND3,
KCNE1,
KCNE2,
KCNE3,
KCNE5,
KCNH2,
KCNJ2,
KCNJ5,
KCNJ8,
KCNQ1,
LEMD2,
LMNA,
MYH6,
MYL4,
NKX2-5,
NPPA,
NUP155,
PKP2,
PLN,
PRKAG2,
RANGRF,
RYR2,
SCN1B,
SCN2B,
SCN3B,
SCN4B,
SCN5A,
SCN10A,
SEMA3A,
SLC4A3,
SLMAP,
SNTA1,
TANGO2,
TBX5,
TECRL,
TGFB3,
TMEM43,
TNNI3,
TRDN,
TRPM4,
TTN
Inkludierte Phänotypen
Arrhythmogene rechtsventrikuläre Dysplasie (ARVD): 15 Gene
CDH2,
CTNNA3,
DES,
DSC2,
DSG2,
DSP,
JUP,
LMNA,
PKP2,
PLN,
PRKAG2,
RYR2,
TGFB3,
TMEM43,
TTN
Brugada-Syndrom (BRGDA): 23 Gene
ABCC9,
CACNA1C,
CACNA2D1,
CACNB2,
FGF12,
GPD1L,
HCN4,
KCND2,
KCND3,
KCNE3,
KCNE5,
KCNH2,
KCNJ8,
PKP2,
RANGRF,
SCN1B,
SCN2B,
SCN3B,
SCN5A,
SCN10A,
SEMA3A,
SLMAP,
TRPM4
Familiäres Vorhofflimmern (ATFB): 17 Gene
ABCC9,
GJA5,
KCNA5,
KCNE1,
KCNE2,
KCNE5,
KCNH2,
KCNJ2,
KCNQ1,
MYL4,
NPPA,
NUP155,
SCN1B,
SCN2B,
SCN3B,
SCN4B,
SCN5A
Frühes Repolarisationssyndrom (ERS): 12 Gene
ABCC9,
CACNA1C,
CACNA2D1,
CACNB2,
DPP6,
GPD1L,
KCND3,
KCNE1,
KCNH2,
KCNJ8,
SCN5A,
SCN10A
Katecholaminerge polymorphe ventrikuläre Tachykardie (CPVT): 9 Gene
ANK2,
CALM1,
CALM2,
CALM3,
CASQ2,
KCNJ2,
RYR2,
TECRL,
TRDN
Long-QT-Syndrom (LQT): 18 Gene
AKAP9,
ALG10B,
ANK2,
CACNA1C,
CALM1,
CALM2,
CALM3,
CAV3,
KCNE1,
KCNE2,
KCNH2,
KCNJ2,
KCNJ5,
KCNQ1,
SCN4B,
SCN5A,
SNTA1,
TRDN
Short-QT-Syndrom (SQT): 7 Gene
CACNA1C,
CACNA2D1,
CACNB2,
KCNH2,
KCNJ2,
KCNQ1,
SLC4A3
Sick-Sinus-Syndrom (SSS): 4 Gene
GNB2,
HCN4,
MYH6,
SCN5A
HPO Terms
Arrhythmia, Tachyarrhythmia, Bradyarrhythmia, Ventricular arrhythmia, Atrial arrhythmia, Sudden cardiac death, QT prolongation, Cardiac conduction abnormality, Bundle branch block, Atrioventricular block, Wolff-Parkinson-White syndrome, Pre-excitation, Accessory pathway, Ventricular tachycardia, Ventricular fibrillation, Atrial fibrillation, Atrial flutter, Noncompaction cardiomyopathy, ECG abnormalities, Cardiac conduction defect
