Gen-Panel
Makrozephalie, umfassende Diagnostik: ID070.03, 135 Gene
ABCC9,
ADK,
AKT1,
AKT3,
ALKBH8,
AMER1,
ANKH,
APC2,
ASPA,
ASXL2,
BRAF,
BRWD3,
CAMK2G,
CCDC22,
CCDC88C,
CCND2,
CDH2,
CDKN1C,
CHD1,
CHD3,
CHD8,
CRADD,
CSF1R,
CUL4B,
DDX3X,
DEAF1,
DIS3L2,
DNMT3A,
DVL1,
DVL3,
EED,
EML1,
EXT2,
EZH2,
FGFR3,
FIBP,
FMR1,
FOXP1,
GATAD2B,
GCDH,
GFAP,
GLI3,
GPC3,
GPC4,
GRIA3,
GUSB,
H1-4,
HEPACAM,
HERC1,
HRAS,
HSD17B4,
HUWE1,
IGBP1,
INPPL1,
KDM5C,
KIF7,
KPTN,
KRAS,
L1CAM,
LAMB1,
LBR,
LZTR1,
MAN2B1,
MAP2K1,
MAP2K2,
MAPK1,
MECP2,
MED12,
MITF,
MLC1,
MPDZ,
MRAS,
MSL3,
MTOR,
NF1,
NFIB,
NFIX,
NONO,
NRAS,
NSD1,
NXN,
OFD1,
OPHN1,
PAK1,
PHF21A,
PIGA,
PIGM,
PIGN,
PIGT,
PIK3CA,
PIK3R2,
PKDCC,
PPP1CB,
PPP2R5D,
PTCH1,
PTCH2,
PTEN,
PTPN11,
RAB39B,
RAC1,
RAF1,
RIN2,
RIT1,
RNF125,
RNF135,
ROR2,
RRAS2,
SEC23B,
SETD2,
SHANK3,
SHOC2,
SHROOM4,
SNX10,
SOS1,
SOS2,
SPOP,
SPRED1,
SPRED2,
STRADA,
SUFU,
SUZ12,
TBC1D7,
TCIRG1,
TMCO1,
TNFRSF11A,
TRIO,
TRIP12,
UPF3B,
WASHC5,
WDR81,
WNT5A,
ZBTB7A,
ZBTB20,
ZBTB42,
ZDHHC9
Inkludierte Phänotypen
Cowden-Syndrom (CWS): 4 Gene
AKT1,
PIK3CA,
PTEN,
SEC23B
Großwuchssyndrome: 15 Gene
CDKN1C,
DIS3L2,
DNMT3A,
EED,
EZH2,
FIBP,
GPC3,
GPC4,
NFIX,
NSD1,
OFD1,
PTEN,
RNF125,
SETD2,
SUZ12
Intellektuelle Entwicklungsstörungen mit Makrozephalie: 36 Gene
ADK,
ALKBH8,
BRWD3,
CAMK2G,
CHD3,
CRADD,
CUL4B,
DDX3X,
DEAF1,
FMR1,
GATAD2B,
GRIA3,
HEPACAM,
HUWE1,
IGBP1,
KDM5C,
KIF7,
KPTN,
L1CAM,
MECP2,
MED12,
MSL3,
MTOR,
NONO,
OPHN1,
PAK1,
PHF21A,
PPP2R5D,
PTEN,
RAB39B,
RAC1,
SHANK3,
SHROOM4,
TRIO,
UPF3B,
ZDHHC9
Robinow-Syndrom (RRS, DRS): 5 Gene
DVL1,
DVL3,
NXN,
ROR2,
WNT5A
