Skeletal Disorder

Analysis of all known genes associated with skeletal disorder

GC_8 Skeletal dysplasia and disorder

Last update: 07.01.2026

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

GC_15 Craniosynostosis

Craniosynostosis is characterized by premature fusion of one or more cranial sutures, resulting in abnormal skull growth and, in some cases, increased intracranial pressure, craniofacial asymmetry, or developmental complications. It may occur as an isolated finding or as part of a broader genetic syndrome involving craniofacial, limb, cardiac, or neurodevelopmental abnormalities.

This panel includes genes associated with both syndromic and nonsyndromic forms of craniosynostosis, including the major craniosynostosis syndromes as well as other genetic disorders in which premature cranial suture fusion is a prominent feature.

This panel is recommended for patients with isolated or syndromic craniosynostosis, particularly when premature cranial suture fusion is the primary presenting feature or when associated congenital, skeletal, craniofacial, or neurodevelopmental abnormalities suggest an underlying genetic syndrome.

Last update: 26.01.2026

ACTB, ACTG1, ADAMTSL4, AHDC1, ALPL, ALX3, ALX4, ANKH, ARID1B, ARSB, ASXL1, ASXL3, AXIN2, B3GAT3, BCL11B, BMP4, BRAF, CD96, CDC45, CDK13, CDT1, CHD5, CHD7, COLEC11, CTSK, CYP26B1, DDX3X, DPF2, DPH1, EDNRB, EFNA4, EFNB1, ERF, ESCO2, FAM20C, FBN1, FBXO11, FGF10, FGF9, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FREM1, GDF5, GLI3, GNAS, GNPTAB, GPC3, HNRNPK, HUWE1, IDS, IDUA, IFT122, IFT140, IFT43, IGF1R, IHH, IL11RA, IL6ST, IRX5, JAG1, KAT6A, KAT6B, KMT2D, KPTN, KRAS, LTBP1, MAN2B1, MASP1, MEGF8, MSX2, NFIA, NFIX, NOG, OGT, ORC1, ORC4, ORC6, P4HB, PAX3, PHEX, PJA1, POR, PPP1CB, PPP3CA, PRRX1, PTCH1, PTPN11, RAB23, RECQL4, RNU12, RSPRY1, RUNX2, SCARF2, SEC24D, SHOC2, SIX1, SIX2, SKI, SLC25A24, SMAD2, SMAD3, SMAD6, SMO, SOX10, SOX6, SPECC1L, SPRY1, STAT3, TCF12, TCOF1, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TLK2, TMCO1, TRAF7, TWIST1, TWIST2, WDR19, WDR35, ZEB2, ZIC1, ZNF462

GC_22 Osteogenesis Imperfecta

Osteogenesis imperfecta and related bone fragility disorders are inherited conditions characterized by reduced bone strength, recurrent fractures, low bone mineral density, and skeletal deformities. Additional manifestations may include blue sclerae, dentinogenesis imperfecta, hearing loss, short stature, and ligamentous laxity.

This panel includes genes associated with classical osteogenesis imperfecta as well as other inherited disorders affecting collagen synthesis and processing, bone mineralization, osteoblast function, and skeletal strength.

This panel is recommended for patients with recurrent or low-trauma fractures, unexplained low bone mineral density, skeletal deformities, or other clinical findings suggestive of osteogenesis imperfecta or an inherited bone fragility disorder, including mild or atypical presentations.

Last update: 19.01.2026

ALPL, ANO5, ARCN1, ASCC1, B3GALT6, B3GAT3, B4GALT7, BMP1, CA2, CASR, CLCN5, CLCN7, COL1A1, COL1A2, COPB2, CREB3L1, CRTAP, CTNS, CTSK, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FAM20C, FGF23, FGFR1, FKBP10, GNAS, GORAB, IFITM5, KDELR2, KIF5B, LRP5, LRRK1, MBTPS2, MESD, NBAS, NOTCH2, NTRK1, NUDT6, OCRL, OSTM1, P3H1, P4HB, PHEX, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SFRP4, SGMS2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SNX10, SP7, SPARC, SUCO, TAPT1, TCIRG1, TENT5A, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP4, TRPV6, UNC45A, VDR, WNT1, WNT11, WNT3A, XYLT2

ClinVar P/LP variants (IDs) not covered: PHEX:[3359149] | SEC24D:[4279086]

GC_59 Short Stature

Short stature has a broad genetic etiology ranging from isolated disorders of growth to skeletal dysplasias, endocrine abnormalities, chromosomal disorders, and multisystem developmental syndromes. Genetic causes may affect the growth hormone–IGF-1 axis, growth plate development and signaling, skeletal growth, or broader developmental pathways.

This panel includes genes associated with primary and secondary genetic causes of growth impairment, including SHOX-related disorders, skeletal dysplasias, growth plate disorders, growth hormone deficiency or insensitivity, RASopathies, and syndromic growth disorders.

This panel is recommended for patients with unexplained short stature, particularly severe short stature, significant deviation from the expected mid-parental height, disproportionate growth, inconclusive endocrine evaluation, or accompanying skeletal, developmental, dysmorphic, or other syndromic features.

Last update: 08.01.2026

ACAN, ACTB, ACTG1, AMMECR1, ANAPC1, ANKRD11, ARCN1, ATR, B3GAT3, BCS1L, BLM, BMP2, BRAF, BRCA2, BRIP1, BTK, C2CD3, CBL, CCDC186, CCDC8, CDC45, CDC6, CDKN1C, CDT1, CENPJ, CEP120, CEP152, CEP57, CEP63, CFAP410, COG4, COL27A1, CREBBP, CSPP1, CUL7, DHCR7, DONSON, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EP300, ERCC4, EVC, EVC2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBXO22, FGD1, FGFR3, FN1, FOXP4, GGPS1, GH1, GHR, GHRHR, GHSR, GLI2, GNAS, HDAC8, HESX1, HMGA2, HRAS, IDUA, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IGF1, IGF1R, IGF2, IGFALS, INSR, INTS1, INTU, IRS1, KDM3B, KIAA0586, KIAA0753, KRAS, LARP7, LFNG, LHX3, LHX4, LRRC8C, LZTR1, MAP2K1, MAP2K2, MAPK1, MRAS, MSTO1, MTX2, NBAS, NBN, NEK1, NF1, NHLRC2, NIPBL, NLRP2, NLRP5, NLRP7, NOTCH2, NPR2, NRAS, OBSL1, ORC1, ORC4, ORC6, OSGEP, OTX2, PADI6, PALB2, PCNT, PIK3R1, PISD, PITX2, PLAG1, PLK4, POC1A, POP1, POU1F1, PPP1CB, PPP3CA, PRMT7, PROP1, PTPN11, PUF60, QSOX2, RAD21, RAD51, RAF1, RALA, RAP1B, RASA2, RBBP8, RECQL4, RIT1, RNPC3, RNU4ATAC, RRAS, RRAS2, RSPRY1, RTTN, SETD5, SGMS2, SHOC2, SHOX, SLC13A1, SLF2, SLX4, SMARCA2, SMARCE1, SMC1A, SMC3, SMC5, SOS1, SOS2, SOX11, SOX2, SOX3, SPOUT1, SPRED2, SRCAP, STAT5B, TALDO1, TBX19, TBX2, TBX3, TCTN3, TOP3A, TRIM37, TRMT10A, TTC21B, UBE2T, VPS50, WDR19, WDR35, XRCC4, ZFP57, ZNF668

ClinVar P/LP variants (IDs) not covered: ANKRD11:[1341548] | BRCA2:[3780838] | IDUA:[2507023]; [3393459] | NF1:[242478]; [3404745]

GC_75 Exocytosis

Hereditary multiple exostoses (HME) is a skeletal disorder characterized by the development of multiple benign cartilage-capped bone tumors (osteochondromas), typically arising from the metaphyses of long bones during childhood. Affected individuals may develop skeletal deformities, limb-length discrepancies, pain, restricted joint mobility, and have a small lifetime risk of malignant transformation to chondrosarcoma.

This panel currently includes EXT2, a key gene involved in heparan sulfate biosynthesis and normal growth plate development. Pathogenic variants in EXT1 and EXT2 are the major causes of hereditary multiple exostoses, and the absence of EXT1 from this panel should be considered when interpreting a negative result.

This panel is recommended for patients with a clinical diagnosis or strong suspicion of hereditary multiple exostoses, particularly when multiple osteochondromas are present without features suggestive of a broader skeletal dysplasia. Because EXT1 is not included, additional testing may be warranted in appropriate clinical settings.

Last update: 07.01.2026

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