top of page
CL504 Genomic Center Logo v3 convert-01.png

פאנלים

Skeletal dysplasia and disorder

GC_8

Last update: 07.01.2026

Skeletal dysplasias are a diverse group of inherited disorders affecting bone and cartilage development. Clinical manifestations include disproportionate short stature, limb deformities, spinal abnormalities, craniofacial dysmorphism, abnormal bone mineralization, recurrent fractures, and other skeletal abnormalities.

This panel includes genes associated with the major inherited skeletal disorders, including osteochondrodysplasias, spondyloepiphyseal dysplasias, metaphyseal and epiphyseal dysplasias, osteogenesis imperfecta, craniosynostosis, hereditary multiple exostoses, ciliopathies, and skeletal dysplasias with extraskeletal involvement. Representative genes include COL1A1, COL2A1, COL11A1, FGFR3, NPR2, IHH, ALPL, PHEX, EXT1, EXT2, and RUNX2.

This panel is recommended for patients with unexplained skeletal abnormalities, disproportionate short stature, or complex skeletal phenotypes, particularly when radiographic findings are inconclusive or multiple skeletal disorders are being considered. It is the preferred comprehensive panel when a specific skeletal diagnosis is not yet apparent.
ABCC9, ABL1, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AFF3, AFF4, AGA, AGPS, AIFM1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1B, ARL6, ARSB, ARSK, ARSL, ASCC1, ASPM, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, ATRIP, AXIN1, B3GALT6, B3GAT3, B3GLCT, B4GALT7, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, BTRC, C21ORF2, C2CD3, CA2, CANT1, CASR, CBFB, CC2D2A, CCDC8, CCN2, CCN6, CCNQ, CDC45, CDC6, CDH3, CDK5RAP2, CDKN1C, CDT1, CENPE, CENPJ, CEP120, CEP135, CEP152, CEP290, CEP63, CEP97, CFAP410, CHST14, CHST3, CHSY1, CHUK, CILK1, CKAP2L, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, COPB2, CREB3L1, CREBBP, CRIPT, CRLF1, CRTAP, CSF1R, CSGALNACT1, CSNK1G1, CSPP1, CTNS, CTSA, CTSC, CTSK, CUL7, CWC27, CYP27B1, CYP2R1, DCC, DDR2, DDRGK1, DDX58, DHCR24, DHCR7, DHODH, DIP2C, DIS3L2, DLL1, DLL3, DLL4, DLX3, DLX5, DMP1, DMRT2, DNA2, DNAJC21, DNMT3A, DOCK6, DONSON, DPAGT1, DPM1, DROSHA, DSE, DVL1, DVL2, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EDN1, EDNRA, EED, EFL1, EFNB1, EFTUD2, EIF2AK3, EIF4A3, EN1, ENAM, ENPP1, EOGT, EP300, ERF, ERI1, ESCO2, EVC, EVC2, EXOC6B, EXOSC2, EXT1, EXT2, EXTL3, EZH2, FAH, FAM111A, FAM20A, FAM20C, FAM83H, FANCB, FANCC, FAR1, FAT4, FBLN1, FBN1, FBN2, FBXW11, FBXW4, FERMT3, FGF10, FGF16, FGF23, FGF4, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FN1, FTO, FUCA1, FZD2, GALNS, GALNT3, GCM2, GDF3, GDF5, GDF6, GHR, GHRHR, GHSR, GJA1, GLB1, GLI3, GMNN, GNAI3, GNAS, GNE, GNPAT, GNPNAT1, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HAAO, HDAC4, HDAC8, HEATR3, HES7, HGSNAT, HHAT, HNRNPK, HOXA11, HOXA13, HOXD13, HPGD, HRAS, HS2ST1, HSPA9, HSPG2, HYAL1, IARS2, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, IGF1, IGF2, IHH, IKBKG, IL11RA, IL1RN, INPPL1, INTU, JAG1, KAT6B, KCNJ2, KDELR2, KIAA0586, KIAA0753, KIF22, KIF24, KIF5B, KIF7, KL, KMT2A, KMT2D, KYNU, LARP7, LBR, LEMD3, LFNG, LIFR, LIG4, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRP4, LRP5, LRRC8C, LRRK1, LTBP1, LTBP2, LTBP3, MACROH2A1, MAFB, MAN2B1, MANBA, MAP2K1, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MCM5, MCPH1, MECOM, MEGF8, MEOX1, MESD, MESP2, MET, MGP, MIA3, MIR17HG, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSX2, MTX2, MYCN, MYH3, MYO18B, NAGLU, NANS, NBAS, NEK1, NEPRO, NEU1, NF1, NFIX, NIN, NIPBL, NKX3-2, NLRP3, NMNAT1, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRCAM, NSD1, NSDHL, NSMCE2, NT5E, NTRK1, NXN, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCGF2, PCNT, PCYT1A, PDE3A, PDE4D, PDIA6, PEX5, PEX7, PFN1, PGM3, PHEX, PHGDH, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PISD, PITX1, PKDCC, PLCB4, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1B, POLR1C, POLR1D, POLR3A, POLR3B, POP1, POR, PPIB, PPP3CA, PRKAR1A, PRKG2, PRMT7, PSAT1, PSMC3, PSPH, PTBP1, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RECQL4, RFT1, RINT1, RIPPLY2, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RPL13, RSPO2, RSPRY1, RTTN, RUNX2, SALL1, SALL4, SBDS, SC5D, SCARF2, SCUBE3, SEC24D, SERPINF1, SERPINH1, SETBP1, SETD2, SETD5, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SIK3, SKI, SLC10A7, SLC13A1, SLC17A5, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35B2, SLC35C1, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SQSTM1, SRCAP, SRP54, STAMBP, STT3A, SUCO, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN2, TCTN3, TENT5A, TERT, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM165, TMEM216, TMEM231, TMEM251, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TOMM7, TONSL, TP63, TRAF3IP1, TRAIP, TRAPPC2, TREM2, TRIM37, TRIP11, TRIP4, TRMT10A, TRPS1, TRPV4, TRPV6, TTC21B, TTC8, TUBGCP4, TUBGCP6, TWIST1, TYROBP, UBA2, UBE3B, UFSP2, UNC45A, VAC14, VDR, VIPAS39, VPS33A, VPS35L, WBP11, WDPCP, WDR19, WDR35, WDR4, WNT1, WNT10B, WNT3, WNT3A, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, YY1, ZMPSTE24, ZNF687, ZSWIM6

ClinVar P/LP variants (IDs) not covered: ANKRD11:[1341548] | ARID1B:[3378371] | CEP290:[3774377] | FBN1:[3769620]; [3769623]; [3769614]; [3769613]; [3769618]; [3769624] | GALNS:[3600992]; [3600991] | GNE:[4068787] | HOXA13:[1679196] | IDUA:[2507023]; [3393459] | IL1RN:[14674] | LMX1B:[4292043] | MAN2B1:[3024226] | NF1:[242478]; [3404745] | OFD1:[375728] | PAX3:[4526662] | PHEX:[3359149] | SEC24D:[4279086] | SMAD4:[3445838] | SOST:[1327524] | WDR4:[3377309]

bottom of page