Cowden-Syndrom (CWS)
AKT1,
PIK3CA,
PTEN,
SEC23B
Robinow-Syndrom (RRS, DRS)
DVL1,
DVL3,
NXN,
ROR2,
WNT5A
Großwuchssyndrome
CDKN1C,
DIS3L2,
DNMT3A,
EED,
EZH2,
FIBP,
GPC3,
GPC4,
NFIX,
NSD1,
OFD1,
PTEN,
RNF125,
SETD2,
SUZ12
Intellektuelle Entwicklungsstörungen mit Makrozephalie
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
Gesamte Genliste
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, ZBTB20, ZBTB42, ZBTB7A, ZDHHC9
