Gen-Panel
Syndromale kongenitale Herzfehler: ID252.02, 109 Gene
ABL1,
ACTA2,
ACTB,
ACTG1,
ADAMTS10,
ADAMTS17,
AFF4,
ARHGAP31,
ARID1A,
ARID1B,
B3GAT3,
BCOR,
BRAF,
CBL,
CCDC22,
CDK13,
CHD4,
CHD7,
CREBBP,
DHCR7,
DLL4,
DOCK6,
DPYSL5,
DTNA,
EHMT1,
EOGT,
EP300,
EVC,
EVC2,
FBN1,
FBN2,
FLNA,
FOXC1,
FOXF1,
FOXP1,
GATA6,
GPC3,
HAAO,
HOXA1,
HRAS,
JAG1,
KDM6A,
KMT2D,
KRAS,
KYNU,
LTBP2,
LZTR1,
MAP2K1,
MAP2K2,
MAPK1,
MED12,
MED13L,
MEGF8,
MEIS2,
MGP,
MRAS,
MYH11,
MYRF,
NADSYN1,
NF1,
NIPBL,
NONO,
NOTCH1,
NOTCH2,
NRAS,
NSD1,
PIGL,
PITX2,
PPP1CB,
PRKAR1A,
PRKD1,
PTPN11,
RAB23,
RAF1,
RBM10,
RBPJ,
RERE,
RIT1,
RRAS2,
SALL1,
SALL4,
SEMA3E,
SHOC2,
SMARCA4,
SMARCB1,
SMARCE1,
SMC3,
SOS1,
SOS2,
SPRED2,
STAG2,
STRA6,
TBX1,
TBX3,
TBX5,
TFAP2B,
TGDS,
TGFBR1,
TGFBR2,
TKT,
TMEM94,
TMEM260,
TRAF7,
VPS35L,
WASHC5,
WDPCP,
YY1AP1,
ZEB2,
ZIC3
Inkludierte Phänotypen
Adams-Oliver-Syndrom (AOS): 6 Gene
ARHGAP31,
DLL4,
DOCK6,
EOGT,
NOTCH1,
RBPJ
Alagille-Syndrom (ALGS): 2 Gene
JAG1,
NOTCH2
CHARGE-Syndrom: 2 Gene
CHD7,
SEMA3E
Kabuki-Syndrom (KABUK): 2 Gene
KDM6A,
KMT2D
Kardiofaziokutanes Syndrom (CFC): 4 Gene
BRAF,
KRAS,
MAP2K1,
MAP2K2
Marfan-Syndrom (MFS): 3 Gene
FBN1,
TGFBR1,
TGFBR2
Noonan-Syndrom (NS): 16 Gene
BRAF,
CBL,
KRAS,
LZTR1,
MAPK1,
MRAS,
NRAS,
PPP1CB,
PTPN11,
RAF1,
RIT1,
RRAS2,
SHOC2,
SOS1,
SOS2,
SPRED2
Ritscher-Schinzel-Syndrom (RTSC): 4 Gene
CCDC22,
DPYSL5,
VPS35L,
WASHC5
VCRL-Syndrom: 3 Gene
HAAO,
KYNU,
NADSYN1
Weill-Marchesani-Syndrom (WMS): 4 Gene
ADAMTS10,
ADAMTS17,
FBN1,
LTBP2
HPO Terms
Aortic coarctation, Aortic valve stenosis, Aortic valve atresia, Aortic stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Pulmonary stenosis, Pulmonary valve stenosis, Tetralogy of Fallot, Transposition of great arteries, Ebstein anomaly of tricuspid valve, Coarctation of aorta, Pulmonary atresia, Aortic arch hypoplasia, Pulmonary artery sling, Aortic arch anomalies, Aortic arch hypoplasia, Aortic arch hypoplasia
