Gen-Panel
Kongenitale Herzfehler, umfassende Diagnostik: ID019.02, 149 Gene
ABL1,
ACTA2,
ACTB,
ACTC1,
ACTG1,
ACVR2B,
ADAMTS10,
ADAMTS17,
ADAMTS19,
AFF4,
ARHGAP31,
ARID1A,
ARID1B,
B3GAT3,
BCOR,
BRAF,
CBL,
CCDC22,
CDK13,
CFAP45,
CFAP52,
CFAP53,
CFC1,
CHD4,
CHD7,
CIROP,
CITED2,
CREBBP,
CRELD1,
DHCR7,
DLL4,
DNAAF1,
DNAH5,
DNAH9,
DNAH11,
DOCK6,
DPYSL5,
DTNA,
EHMT1,
ELN,
EOGT,
EP300,
EVC,
EVC2,
FBN1,
FBN2,
FLNA,
FLT4,
FOXC1,
FOXF1,
FOXH1,
FOXP1,
GATA4,
GATA5,
GATA6,
GDF1,
GJA1,
GPC3,
HAAO,
HAND1,
HOXA1,
HRAS,
ISL1,
JAG1,
KDM6A,
KMT2D,
KRAS,
KYNU,
LTBP2,
LZTR1,
MAP2K1,
MAP2K2,
MAPK1,
MED12,
MED13L,
MEGF8,
MEIS2,
MGP,
MMP21,
MNS1,
MRAS,
MYH6,
MYH11,
MYRF,
NADSYN1,
NF1,
NIPBL,
NKX2-5,
NKX2-6,
NODAL,
NONO,
NOTCH1,
NOTCH2,
NR2F2,
NRAS,
NSD1,
ODAD2,
PIGL,
PITX2,
PKD1L1,
PLD1,
PPP1CB,
PRDM6,
PRKAR1A,
PRKD1,
PTPN11,
RAB23,
RAF1,
RBM10,
RBPJ,
RERE,
RIT1,
ROBO4,
RRAS2,
SALL1,
SALL4,
SEMA3E,
SHOC2,
SMAD6,
SMARCA4,
SMARCB1,
SMARCE1,
SMC3,
SOS1,
SOS2,
SPRED2,
STAG2,
STRA6,
TAB2,
TBX1,
TBX3,
TBX5,
TBX20,
TFAP2B,
TGDS,
TGFBR1,
TGFBR2,
TKT,
TLL1,
TMEM94,
TMEM260,
TRAF7,
VPS35L,
WASHC5,
WDPCP,
YY1AP1,
ZEB2,
ZFPM2,
ZIC3
Inkludierte Phänotypen
Isolierte kongenitale Herzfehler: 48 Gene
ACTC1,
ACVR2B,
ADAMTS19,
CFAP45,
CFAP52,
CFAP53,
CFC1,
CIROP,
CITED2,
CRELD1,
DNAAF1,
DNAH5,
DNAH9,
DNAH11,
ELN,
FLNA,
FLT4,
FOXH1,
GATA4,
GATA5,
GATA6,
GDF1,
GJA1,
HAND1,
ISL1,
JAG1,
MED13L,
MMP21,
MNS1,
MYH6,
NKX2-5,
NKX2-6,
NODAL,
NOTCH1,
NR2F2,
ODAD2,
PKD1L1,
PLD1,
PRDM6,
ROBO4,
SMAD6,
TAB2,
TBX1,
TBX20,
TFAP2B,
TLL1,
ZFPM2,
ZIC3
Syndromale kongenitale Herzfehler: 22 Gene
ABL1,
ACTA2,
ACTB,
ACTG1,
ADAMTS10,
ADAMTS17,
AFF4,
ARHGAP31,
ARID1A,
ARID1B,
B3GAT3,
BCOR,
BRAF,
CBL,
CCDC22,
CDK13,
CHD4,
CHD7,
CREBBP,
DHCR7,
DLL4,
DOCK6
