612 genes
Displasias esqueléticas y enfermedades esqueléticas hereditarias
Panel integral para talla baja desproporcionada, acortamiento rizomélico, alteraciones epifisarias o metafisarias, deformidades progresivas, sinostosis, exostosis múltiples y anomalías esqueléticas con dismorfias o retraso del desarrollo. Incluye los genes de los dos subpaneles dirigidos de esta página y otras enfermedades del catálogo conjunto.
Ver genes propuestos
ABCC9, ACAN, ACOX1, ACP5, ACTA1, ACTB, ACTG1, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, AEBP1, AFF3, AGA, AGPS, AIFM1, AKT1, AKT2, ALDH18A1, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC1, ANKH, ANKRD11, ANO5, ANTXR2, APC2, ARHGAP25, ARHGAP31, ARID1A, ARID1B, ARSB, ARSK, ARSL, ASAH1, ASXL1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATR, B3GALT6, B3GAT3, B4GALT7, BANF1, BCL11B, BGN, BHLHA9, BIN1, BMP1, BMP2, BMPER, BMPR1B, BNIP1, BPNT2, C1R, C1S, CA2, CANT1, CASR, CBFB, CC2D2A, CCDC134, CCDC8, CCN6, CCNQ, CDC45, CDC6, CDC73, CDH3, CDK10, CDKN1C, CDT1, CENPE, CEP120, CEP152, CEP290, CFAP410, CHD7, CHRNG, CHST11, CHST14, CHST3, CHSY1, CILK1, CKAP2L, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COPB2, CREB3L1, CREBBP, CRIPT, CRTAP, CSF1R, CSGALNACT1, CSPP1, CTSA, CTSK, CUL7, CYP24A1, CYP26B1, CYP27B1, CYP2R1, CYP3A4, DDR2, DDRGK1, DHCR24, DHODH, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNA2, DNAJC21, DNMT3A, DOCK6, DONSON, DSE, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, ECEL1, EDN1, EDNRA, EED, EFEMP2, EFL1, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ELMO2, ELN, EN1, ENPP1, EOGT, EP300, EPS15L1, ERF, ESCO2, EVC, EVC2, EXOC6B, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20C, FANCB, FAR1, FAT4, FBLN1, FBLN5, FBN1, FBN2, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FREM1, FUCA1, FZD2, GALNS, GALNT3, GBA1, GCM2, GDF3, GDF5, GDF6, GGCX, GH1, GHR, GHRHR, GINS2, GJA1, GLB1, GLI1, GLI2, GLI3, GMNN, GNAI3, GNAS, GNPAT, GNPNAT1, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPC4, GPC6, GPX4, GREM1, GRK2, GSC, GUSB, HAAO, HDAC4, HDAC8, HES7, HGSNAT, HHAT, HMGA2, HNRNPC, HNRNPK, HOXA11, HOXA13, HOXD13, HPGD, HRAS, HS2ST1, HSD17B4, HSPA9, HSPG2, HYAL1, IARS2, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT54, IFT80, IFT81, IGF1, IGF1R, IGFALS, IHH, IKBKG, IL11RA, IL1RN, IL6ST, INPPL1, INTU, IPO8, KANSL1, KAT6B, KCNJ2, KDELR2, KDM6A, KIAA0586, KIAA0753, KIAA0825, KIF22, KIF5B, KIF7, KL, KMT2A, KMT2D, KYNU, LAMA5, LBR, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LOX, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP2, LTBP3, LTBP4, LYSET, MAB21L2, MAFB, MAN2B1, MANBA, MAP2K1, MAP3K20, MAP3K7, MAPKAPK5, MASP1, MATN3, MBTPS1, MBTPS2, MCM3, MCM5, MCM7, MECOM, MED12, MEGF8, MEOX1, MESD, MESP2, MET, MFAP5, MGP, MID1, MIR140, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MSX2, MTAP, MTX2, MYBPC1, MYCN, MYH3, MYH8, MYO18B, NADSYN1, NAGLU, NALCN, NANS, NBAS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NMNAT1, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NSD1, NSDHL, NSMCE2, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCNT, PCYT1A, PDE3A, PDE4D, PDGFRB, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGM3, PHEX, PHYH, PIEZO2, PIGV, PIK3CA, PISD, PITX1, PLCB3, PLCB4, PLEKHM1, PLOD1, PLOD2, PLOD3, PLS3, POLE, POLR1A, POLR1B, POLR1C, POLR1D, POLR3A, POLR3B, POLR3GL, POP1, POR, PORCN, PPIB, PRDM5, PRKACA, PRKACB, PRKAR1A, PRKG2, PRMT7, PRRX1, PTDSS1, PTEN, PTH1R, PTHLH, PTPN11, PYCR1, RAB23, RAB33B, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RECQL4, RFLNA, RIGI, RIN2, RINT1, RIPPLY2, RMP64, RMRP, RNU12, RNU4ATAC, ROR2, RPGRIP1L, RPL13, RSPO2, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SCUBE3, SEC23A, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SFRP4, SGK3, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SIK3, SIX1, SIX2, SKI, SLC10A7, SLC17A5, SLC25A24, SLC26A2, SLC29A3, SLC2A10, SLC34A1, SLC34A3, SLC35B2, SLC35D1, SLC39A13, SLC4A2, SLCO2A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMO, SMS, SNRPB, SNX10, SOST, SOX6, SOX9, SP7, SPARC, SPECC1L, SQSTM1, SRP54, STAT5B, SUMF1, SUZ12, TAB2, TBC1D24, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN3, TENT5A, TFAP2B, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM165, TMEM216, TMEM38B, TMEM53, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNNI2, TNNT3, TNXB, TONSL, TOP2B, TP63, TPM2, TRAF7, TRAIP, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TWIST1, TXNL4A, TYROBP, UBA2, UFSP2, VAC14, VCP, VDR, VPS33A, WDR19, WDR35, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, ZIC1, ZIC3, ZMPSTE24, ZNF462, ZNF469, ZSWIM6
