Skelettdysplasie Gen-Panel
(663 Gene; bei komplexen Syndromen mit Skelettbeteiligung)
ABCC9, ABL1, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADAMTSL2, ADGRV1, ADI1, AFF3, AFF4, AGA, AGPS, AHI1, AIFM1, AIPL1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC2, ANKH, ANKRD11, ANO5, ANTXR1, ANTXR2, APC2, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARSB, ARSE, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, ATXN10, B3GALT6, B3GAT3, B3GLCT, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMP4, BMPER, BMPR1B, BVES, C21ORF2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC28B, CCDC39, CCDC40, CCDC8, CCN6, CCNQ, CD96, CDC45, CDC6, CDC73, CDH15, CDH23, CDH3, CDKN1C, CDT1, CENPE, CEP120, CEP152, CEP164, CEP290, CEP41, CFAP410, CFTR, CHST14, CHST3, CHSY1, CILK1, CKAP2L, CLCN5, CLCN7, CLRN1, COG1, COG4, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL5A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, CORIN, CPLANE1, CRB1, CREB3L1, CREBBP, CRELD1, CRIPT, CRLF1, CRTAP, CRX, CSF1R, CSGALNACT1, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1, DACT1, DCC, DDR2, DDRGK1, DDX58, DHCR24, DHCR7, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DMTF1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC21, DNAL1, DNMT3A, DOCK6, DOLPP1, DPAGT1, DPM1, DPM2, DPM3, DSE, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EDN1, EDNRA, EED, EFL1, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ENAM, ENPP1, EOGT, EP300, ERF, ESCO2, ESR1, ETF1, EVC, EVC2, EXOC6B, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20B, FAM20C, FAM83H, FANCB, FANCC, FAR1, FBLIM1, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FOXC1, FOXH1, FUCA1, FUZ, FZD2, GALNS, GALNT3, GCM2, GDF1, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GLIS2, GNAI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GSC, GUCY2D, GUSB, GZF1, HAAO, HDAC4, HDAC5, HDAC8, HES7, HGSNAT, HHAT, HNRNPK, HOXA11, HOXA13, HOXD10, HOXD11, HOXD13, HPGD, HRAS, HSPA9, HSPG2, HYLS1, IARS2, ID4, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IFT88, IGF1, IGF1R, IHH, IKBKG, IL11RA, IL1RN, IMPAD1, IMPDH1, INPPL1, INTU, INVS, IQCB1, KAT6B, KCNJ13, KCNJ2, KIAA0586, KIAA0753, KIF22, KIF7, KL, KMT2A, KMT2D, KYNU, LBR, LCA5, LEFTY2, LEMD3, LEPRE1, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRAT, LRP4, LRP5, LRP6, LRRK1, LTBP2, LTBP3, MAFB, MAN2B1, MAN2C1, MANBA, MAP2K1, MAP3K20, MAP3K7, MASP1, MATN3, MBTPS2, MCM5, MECOM, MEGF8, MEOX1, MESP2, MET, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MRPL13, MSX2, MTAP, MYCN, MYH3, MYO18B, MYO7A, NAGLU, NANS, NBAS, NEK1, NEK8, NEK9, NEU1, NF1, NFIX, NIN, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NPPC, NPR2, NPR3, NPRL2, NPRL3, NRAS, NSD1, NSDHL, NSMCE2, NXN, OAT, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCARE, PCDH15, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHF6, PHGDH, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PIN1, PIR, PISD, PITX1, PKD2, PKHD1, PLCB3, PLCB4, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLE, POLR1A, POLR1C, POLR1D, POLR3A, POLR3B, POP1, POR, PORCN, PPIB, PRKAR1A, PRKD2, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PTPRQ, PUF60, PYCR1, PYDC1, RAB23, RAB33B, RAB3GAP2, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RD3, RDH12, RECQL4, RFT1, RIPPLY2, ROR2, RORA, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPL13, RSPH4A, RSPH9, RSPO2, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC24D, SEM1, SERPINA2, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFI1, SFRP4, SGMS2, SGSH, SH3BP2, SH3D19, SH3PXD2B, SHH, SHH-ZNS, SHOX, SKI, SLC10A7, SLC17A5, SLC25A15, SLC25A23, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35C1, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SLTM, SLURP1, SMAD2, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPATA7, SPECC1L, SRCAP, SRP54, STAMBP, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN1, TCTN2, TCTN3, TDP2, TENT5A, TERT, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TONSL, TOPORS, TP63, TRAF3IP1, TRAIP, TRAPPC2, TREM2, TRIM32, TRIM37, TRIP11, TRMT10A, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TTC21B, TTC8, TULP1, TWIST1, TYROBP, UFSP2, UMOD, USH1C, USH1G, USH2A, USP9X, VAC14, VDR, VHL, VIPAS39, VPS33A, WDPCP, WDR19, WDR34, WDR35, WDR60, WHRN, WNT1, WNT10B, WNT3, WNT5A, WNT6, WNT7A, WRN, XPNPEP3, XRCC4, XYLT1, XYLT2, YY1, ZBTB16, ZIC3, ZMPSTE24, ZNF423 und ZSWIM6.
