Gen-Panel
Handfehlbildungen, umfassende Diagnostik: ID298.00, 110 Gene
ADAMTS10,
ADAMTS17,
AKT3,
BHLHA9,
BMP2,
BMPR1B,
C2CD3,
CACNA1C,
CCND2,
CCNQ,
CDH3,
CHST11,
CHSY1,
CIBAR1,
CKAP2L,
CPLANE1,
CREBBP,
DACT1,
DDX59,
DHCR7,
DHODH,
DLL4,
DLX5,
DOCK6,
EFNB1,
EFTUD2,
EOGT,
EP300,
ESCO2,
EVC2,
FBLN1,
FBN1,
FGF9,
FGF10,
FGF16,
FGFR1,
FGFR2,
FGFR3,
FRAS1,
FREM2,
GATA6,
GDF5,
GDF6,
GJA1,
GLI1,
GLI2,
GLI3,
GRIP1,
HOXA13,
HOXD13,
HUWE1,
IFT57,
IGF2,
IHH,
INTU,
IQCE,
IRF6,
KIAA0753,
KIAA0825,
KIF7,
LMBR1,
LMNA,
LRP4,
LTBP2,
MAP3K20,
MECOM,
MEGF8,
MYCN,
NAA10,
NECTIN1,
NECTIN4,
NOG,
NOTCH1,
OFD1,
PAX3,
PDE3A,
PDE4D,
PIK3CA,
PIK3R2,
PITX1,
PRKAR1A,
PRMT7,
PTHLH,
RAB23,
RBM8A,
RBPJ,
RECQL4,
RIPK4,
ROR2,
RUNX2,
SALL1,
SALL4,
SF3B4,
SMO,
SMOC1,
SOST,
TBC1D24,
TBX3,
TBX5,
TBX15,
TCTN3,
TMEM107,
TP63,
TRPV4,
TWIST1,
WDPCP,
WNT7A,
WNT10B,
YY1AP1,
ZNF141
Inkludierte Phänotypen
Akrodysostosis-Syndrom (ACRDYS): 3 Gene
PDE4D,
PRKAR1A,
SF3B4
Akrozephalosyndaktylie (ACS): 6 Gene
FGFR1,
FGFR2,
FGFR3,
MEGF8,
RAB23,
TWIST1
Brachydaktylie (BD), nicht-syndromal: 9 Gene
BMP2,
BMPR1B,
GDF5,
HOXD13,
IHH,
NOG,
PDE3A,
PTHLH,
ROR2
Ektrodaktylie (SHFM): 7 Gene
CDH3,
DLX5,
FGFR1,
IGF2,
TP63,
WNT7A,
WNT10B
Lakrimoaurikulodentodigitales Syndrom (LADD): 3 Gene
FGF10,
FGFR2,
FGFR3
Multiple Synostosen-Syndrom (SYNS): 6 Gene
FGF9,
GDF5,
GDF6,
HOXA11,
MECOM,
NOG
Orofaziodigitales Syndrom (OFD): 9 Gene
C2CD3,
CPLANE1,
DDX59,
IFT57,
INTU,
KIAA0753,
OFD1,
TCTN3,
TMEM107
Polydaktylie (PAPA, PPD), nicht-syndromal: 9 Gene
CIBAR1,
FBLN1,
GLI1,
GLI3,
HOXD13,
IQCE,
KIAA0825,
LMBR1,
ZNF141
Syndaktylie (SDTY), nicht-syndromal: 8 Gene
BHLHA9,
FBLN1,
GJA1,
GLI3,
HOXD13,
LMBR1,
LRP4,
NECTIN4
Weill-Marchesani-Syndrom (WMS): 4 Gene
ADAMTS10,
ADAMTS17,
FBN1,
LTBP2
