Paget Disease Of Bone 5, Juvenile-onset; Pdb5

Description

Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014).For discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

Genes related to Paget Disease Of Bone 5, Juvenile-onset; Pdb5

TNFRSF11B
TNFRSF11A

Clinical Features

Top most frequent phenotypes and symptoms related to Paget Disease Of Bone 5, Juvenile-onset; Pdb5

Global developmental delay
Short stature
Hearing impairment
Sensorineural hearing impairment
Motor delay
Muscle weakness
Milia
Pain
Hypertension
Optic atrophy

And another 38 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Paget Disease Of Bone 5, Juvenile-onset; Pdb5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories in United States. BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...) View the complete list with 617 more genes Panel GTR000508280 complete gene list BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513, AIPL1, YARS2, ALDOA, ALDOB, USH1G, FBP1, PC, GYS2, USH1C, UQCRQ, ARG1, ANKH, UQCRB, HLCS, TYROBP, ATP5F1E, FKBP10, ATP7A, BTD, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, FOXL2, INVS, OPN1MW, HNF1A, HBB, OPN1LW, NEUROD1, SPATA7, MMACHC, RAX, TYRP1, FBLN5, EYA1, PPARG, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, STAR, STAT1, PRKCG, OCA2, VSX1, SLC34A1, APP, SOST, AMN, SLC45A2, WT1, PAX6, TGFB1, ZEB1, ELAC2, TLR4, CHM, RB1, PSEN1, RILP, TGFBI, PITX3, TUBB3, SDHAF2, LEMD3, HNF1B, MTR, RET, MC1R, TYR, ELN, SLC37A4, PDZD7, EYA4, RP1, OPTN, GPR143, TNFRSF11A, INPP5E, ABCA12, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, HPRT1, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, SHH, ME2, PRPH2, DSP, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, CRYAB, SDHC, PANK2, HADHA, RAF1, OPA3, FH, VCP, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, SMPD1, MECP2, CYP11B2, FBN1, SLC26A4, WHRN, MTO1, CDH23, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, DDOST, HARS, C8orf37, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, GOT1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, CAT, HP, BLOC1S3, HPS6, HPS5, HPS4, HPS3, ACAT2, TMEM70, HAGH, PRPF6, SERPINF1, MERTK, DHDDS, SP7, SARS2, SLC24A1, GUCA1B, PDE6A, CCDC39, RGR, CNGB1, NFU1, RS1, PHKA2, FAH, PCK2, NDUFAF1, HMGCL, CCDC28B, HSD3B2, TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12, SOD2, AK1, RPL35A, PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3, PRCD, TSFM, MRPS16, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, HTRA2, SEMA4A, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TOPORS, SECISBP2, TK2, SLC25A22, IQCB1, PLOD2, MPDU1, GFM1, FLVCR1, HADHB, DPM1, PDP1, COG7, ALG9, ATIC, ALG1, RGS9, CERKL, MEF2A, AP3B1, UNG, ALG8, FSCN2, ALG2, GRN, NDUFA13, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, C1QTNF5, CISD2, TAP1, LCA5, SCO2, RIMS1, SLC35A1, GAD1, ALG6, TYMP, EYS, MPI, ETHE1, GUCA1A, SQSTM1, PHOX2A, GJA3, UCP1, UCP3, PPARGC1B, RNASEL, MYO7A, STRA6, ALG3, PITPNM3, CA4, D2HGDH, PUS1, PRPF31, AGPS, PRPF8, RP2, OTC, FRMD7, NYX, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, XDH, MMADHC, LMBRD1, ABHD5, TCN2, HEXA, GM2A, SUOX, ALDH5A1, ALDH3A2, SARDH, HEXB, LPIN1, AK2, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, CYP27B1, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, OAT, GRM6, MPV17, NME1, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, TNFRSF11B, SLC25A15, NAGS, L2HGDH, CBS, HK1, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, CNGA3, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, PPP2R1B, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, SLC25A38, GLRX5, TPP1, CLN3, ALMS1, OGDH, CYP17A1, NCOA4, ANKRD26, HESX1, SLC22A4, RP9, FECH, ZFHX3, PPOX, TMEM127, SEPT9, LMX1B, RPS14, STAT3, OGG1, MYOC, TIMP3, RDH5, KIF21A, FZD4, WWOX, MEN1, COL5A1, COL5A2, SNCB, EFEMP1, GPD2, KRT12, KRT3, CPOX, PAX2, PNKD, AKAP10, PLA2G2A, PHB, TEAD1, SOD1, NEFH, GSN Specificity 1 % Genes 100 %
TNFRSF11B Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. TNFRSF11B Specificity 100 % Genes 50 %
TNFRSF11B Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. TNFRSF11B Specificity 100 % Genes 50 %
TNFRSF11B Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. TNFRSF11B Specificity 100 % Genes 50 %
TNFRSF11B Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. TNFRSF11B Specificity 100 % Genes 50 %
Low Bone Mass Panel (MitomeNGS). By Baylor Miraca Genetics Laboratories in United States. ALPL, FKBP10, B4GALT7, IFITM5, COL1A1, COL1A2, COL3A1, SLC34A1, TNFRSF11A, FBN1, SERPINF1, SP7, PLOD3, SLC39A13, SLC9A3R1, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B , (...) View the complete list with 2 more genes Panel GTR000511543 complete gene list ALPL, FKBP10, B4GALT7, IFITM5, COL1A1, COL1A2, COL3A1, SLC34A1, TNFRSF11A, FBN1, SERPINF1, SP7, PLOD3, SLC39A13, SLC9A3R1, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, COL5A1, COL5A2 Specificity 10 % Genes 100 %
Osteogenesis Imperfecta and Genetic Bone Disorders Panel. By Collagen Diagnostic Laboratory University of Washington in United States. ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...) View the complete list with 10 more genes Panel GTR000525804 complete gene list ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, NBAS, B3GAT3, GORAB Specificity 4 % Genes 50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...) View the complete list with 238 more genes Panel GTR000558369 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH, SERPINF1, SP7, SLC39A13, COG1, P3H1, CRTAP, PLOD2, SQSTM1, AGPS, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, LMX1B, COL5A1, COL5A2, FGFR3, COL10A1, CREBBP, PLOD1, RMRP, RUNX2, VDR, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, NSD1, GPC3, SBDS, PRKAR1A, ADAMTS2, PEX7, SLC26A2, TRPV4, FGFR1, SHOX, PROK2, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, ANKRD11, FGD1, LBR, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, WDR35, CANT1, PTH1R, EBP, NSDHL, RAB23, MSX2, TWIST1, COMP, SOX9, PCNT, ADAMTSL2, DYM, TGFBR1, TGFBR2, SKI, FBN2, FKBP14, TNXB, CHST14, ZNF469, ACVR1, NFIX, GLI3, TP63, GDF6, IFT140, CDH3, BMPR1B, WDR19, PIEZO2, PITX1, ZMPSTE24, RIPK4, FGF10, LHX4, ALX4, SALL4, TBX5, EP300, EFNB1, EFTUD2, ASXL1, SH3BP2, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, GORAB, TTC21B, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, HOXA11, FREM1, ALX1, GDF3, EXT2, EXT1, MGP, SMARCAL1, TCTN3, AFF4, SRCAP, CEP120, WNT5A, RIN2, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, WNT7A, CCNQ, IRF6, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, MEGF8, ERF, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, OBSL1, CCDC8, FAM111A, ENPP1, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, HES7, LFNG, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, HPGD, PTHLH, GDF5, TRAPPC2, MATN3, MEOX1, HDAC4, TBX3, DDR2, EOGT, MMP13, SNX10, INPPL1, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, WNT3, SMOC1, BHLHA9, IHH, XYLT1, TBX6, GHSR, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, ACAN, ADAMTS17, KIF22, RASGRP2, TBX4, TXNL4A, NPPC, SULF1, COL27A1, DDX59, TGDS Specificity 1 % Genes 100 %
Juvenile Paget Disease via TNFRSF11B Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TNFRSF11B Specificity 100 % Genes 50 %
Dense bone dysplasia NGS panel. By Connective Tissue Gene Tests in United States. ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1 Specificity 8 % Genes 50 %
Dense bone dysplasia Comprehensive panel. By Connective Tissue Gene Tests in United States. ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1 Specificity 8 % Genes 50 %
Dense bone dysplasia Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ANKH, TYROBP, COL1A1, SOST, TGFB1, TNFRSF11B, GJA1, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, SLCO2A1 Specificity 8 % Genes 50 %
Paget disease of bone and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687 Specificity 29 % Genes 100 %
Paget disease of bone and related disorders NGS panel. By Connective Tissue Gene Tests in United States. TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687 Specificity 29 % Genes 100 %
Paget disease of bone and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687 Specificity 29 % Genes 100 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...) View the complete list with 8 more genes Panel GTR000559382 complete gene list ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, PLEKHM1, SNX10, SLCO2A1 Specificity 8 % Genes 100 %
Osteopetrosis and Dense bone dysplasia NGS panel. By Connective Tissue Gene Tests in United States. ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...) View the complete list with 8 more genes Panel GTR000559412 complete gene list ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, PLEKHM1, SNX10, SLCO2A1 Specificity 8 % Genes 100 %
Osteopetrosis and Dense bone dysplasia Comprehensive panel. By Connective Tissue Gene Tests in United States. ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...) View the complete list with 8 more genes Panel GTR000559422 complete gene list ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, PLEKHM1, SNX10, SLCO2A1 Specificity 8 % Genes 100 %
Paget disease, juvenile. By Centogene AG - the Rare Disease Company in Germany. TNFRSF11B Specificity 100 % Genes 50 %
Chondrodysplasia punctata Panel. By CeGaT GmbH in Germany. FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, PYCR1, ATP6V0A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, ANO5, PLS3, TMEM38B, BMP1, WNT1 , (...) View the complete list with 2 more genes Panel GTR000527962 complete gene list FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, PYCR1, ATP6V0A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, ANO5, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, GORAB Specificity 5 % Genes 50 %
Skeletal dysplasia with increased bone density Panel. By CeGaT GmbH in Germany. ANKH, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, DHCR24, TBXAS1 , (...) View the complete list with 8 more genes Panel GTR000527963 complete gene list ANKH, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, DHCR24, TBXAS1, LRP4, PTDSS1, HPGD, MTAP, DLX3, PLEKHM1, SNX10, SLCO2A1 Specificity 8 % Genes 100 %
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, CTSK, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, FERMT3, TBXAS1, LRP4, GALNT3, HPGD , (...) View the complete list with 2 more genes Panel GTR000512614 complete gene list ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, CTSK, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, FERMT3, TBXAS1, LRP4, GALNT3, HPGD, DLX3, RASGRP2 Specificity 10 % Genes 100 %
Skeletal Dysplasia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...) View the complete list with 143 more genes Panel GTR000512649 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67, CEP290, SHH, FBN1, SP7, SLC25A12, SLC39A13, P3H1, CRTAP, PLOD2, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, MKS1, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, NIPBL, CDKN1C, PRKAR1A, SLC26A2, TMEM216, TRPV4, LMNA, FGFR1, SHOX, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CHSY1, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, TP63, IFT140, CDH3, SH3PXD2B, BMPR1B, PITX1, ZMPSTE24, FGF10, SALL4, TBX5, GNAS, SERPINH1, GORAB, THPO, RPGRIP1L, KIF7, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, TREM2, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, TCTN3, WNT5A, DYNC2H1, ESCO2, ROR2, TBX15, WNT7A, ICK, NEK1, LRP4, CUL7, OBSL1, TBCE, ENPP1, CLCN5, SLC34A3, DMP1, WISP3, MMP2, GPC6, HOXD13, CHST3, NKX3-2, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, HPGD, PTHLH, GDF5, MATN3, HDAC4, TBX3, DDR2, DLX3, MMP13, MAFB, MMP9, NPR2, BMP2, WNT3, IHH, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, KIF22, RASGRP2, SULF1 Specificity 2 % Genes 100 %
Skeletal Dysplasias NGS panel. By Fulgent Genetics Fulgent Genetics in United States. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...) View the complete list with 141 more genes Panel GTR000515853 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67, CEP290, SHH, FBN1, SP7, SLC25A12, SLC39A13, P3H1, CRTAP, PLOD2, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, MKS1, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, NIPBL, CDKN1C, PRKAR1A, SLC26A2, TMEM216, TRPV4, LMNA, FGFR1, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CHSY1, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, TP63, IFT140, CDH3, SH3PXD2B, BMPR1B, PITX1, ZMPSTE24, FGF10, SALL4, TBX5, GNAS, SERPINH1, GORAB, THPO, RPGRIP1L, KIF7, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, TREM2, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, WNT5A, DYNC2H1, ESCO2, ROR2, TBX15, WNT7A, ICK, NEK1, LRP4, CUL7, OBSL1, TBCE, ENPP1, CLCN5, SLC34A3, DMP1, WISP3, MMP2, GPC6, HOXD13, CHST3, NKX3-2, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, HPGD, PTHLH, GDF5, MATN3, HDAC4, TBX3, DDR2, DLX3, MMP13, MAFB, MMP9, NPR2, BMP2, WNT3, IHH, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, KIF22, RASGRP2, SULF1 Specificity 2 % Genes 100 %
TNFRSF11B. By Fulgent Genetics Fulgent Genetics in United States. TNFRSF11B Specificity 100 % Genes 50 %
PAGET-Complete. By PentaCoreLab in Hungary. OPTN, TNFRSF11A, VCP, SQSTM1, TNFSF11, TNFRSF11B, DCSTAMP, CSF1 Specificity 25 % Genes 100 %
Osteopetrosis and Dense Bone Dysplasia Panel. By Blueprint Genetics in Finland. ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, SLC29A3 , (...) View the complete list with 5 more genes Panel GTR000552716 complete gene list ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, SLC29A3, LRP4, PTDSS1, DLX3, SNX10, SLCO2A1 Specificity 8 % Genes 100 %
Skeletal Dysplasias Core Panel. By Blueprint Genetics in Finland. ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...) View the complete list with 91 more genes Panel GTR000558786 complete gene list ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2, TCIRG1, PPIB, TNFRSF11B, LMX1B, FGFR3, COL10A1, RMRP, RUNX2, VDR, FGFR2, CDKN1C, SMAD4, SBDS, PEX7, SLC26A2, TRPV4, FGFR1, SHOX, PHEX, FGF23, HSPG2, FLNA, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, KAT6B, WDR35, CANT1, PTH1R, EBP, COMP, SOX9, PCNT, ADAMTSL2, DYM, IFT140, LTBP2, BMPR1B, WDR19, GNPAT, PLS3, BMP1, SERPINH1, TTC21B, IFT80, EVC, EVC2, B3GALT6, EIF2AK3, DHCR24, SMARCAL1, IFT172, CSPP1, WNT5A, DYNC2H1, ESCO2, ROR2, NEK1, ARSE, CUL7, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, OBSL1, ENPP1, SLC34A3, WISP3, CHST3, DLL3, ACP5, FLNB, LIFR, TRIP11, ADAMTS10, GDF5, TRAPPC2, MATN3, INPPL1, MMP9, NPR2, IHH, XYLT1, DVL1, PAPSS2, ACAN Specificity 2 % Genes 100 %
Comprehensive Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...) View the complete list with 226 more genes Panel GTR000558787 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, AIFM1, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, LMX1B, ARSB, FGFR3, FANCC, COL10A1, CREBBP, IDS, PTPN11, RMRP, RUNX2, VDR, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, NSD1, CDKN1C, SMAD4, SBDS, PRKAR1A, PEX7, SLC26A2, TRPV4, LMNA, NF1, FGFR1, SHOX, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, ANKRD11, SETBP1, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, KAT6B, WDR35, CANT1, PTH1R, FANCB, EBP, NSDHL, POR, MSX2, TWIST1, COMP, SOX9, PCNT, ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, ALX4, EP300, EFNB1, EFTUD2, SH3BP2, GNPAT, GNAS, GJA1, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, B3GAT3, BGN, SLC29A3, TTC21B, KIF7, IFT43, IFT80, EVC, EVC2, PIK3CA, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, AKT1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, CSPP1, WNT5A, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, CDC45, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, OBSL1, FAM111A, ENPP1, CLCN5, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FAM20A, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, PTHLH, GDF5, TRAPPC2, MATN3, TBX3, DDR2, EOGT, DLX3, MMP13, SNX10, INPPL1, MAFB, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, FAM83H, WDR34, BHLHA9, IHH, XYLT1, LTBP3, DVL1, TBX6, ENAM, NOG, PAPSS2, ACAN, ADAMTS17, KIF22, TBX4, DLL4, EXTL3, NANS, LONP1, CKAP2L Specificity 1 % Genes 100 %
Skeletal Dysplasia with Abnormal Mineralization Panel. By Blueprint Genetics in Finland. ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...) View the complete list with 12 more genes Panel GTR000552636 complete gene list ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR, CASR, PHEX, FGF23, SOX9, PLS3, MGP, PTDSS1, ENPP1, CLCN5, SLC34A3, GALNT3, SNX10 Specificity 7 % Genes 100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel. By Blueprint Genetics in Finland. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...) View the complete list with 288 more genes Panel GTR000561533 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, PITX2, OTX2, RAF1, FBN1, SERPINF1, SP7, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, AIFM1, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, SOX2, HESX1, LMX1B, COL5A1, COL5A2, ARSB, FGFR3, FANCC, BRAF, COL10A1, CREBBP, DHCR7, HRAS, IDS, KRAS, MAP2K1, NRAS, PTPN11, RMRP, RUNX2, SHOC2, SOS1, VDR, FGFR2, HDAC8, RIT1, MAP2K2, RAD21, CBL, SMC3, SMC1A, NIPBL, NSD1, CDKN1C, SMAD4, SBDS, PRKAR1A, PROP1, PEX7, SLC26A2, TRPV4, LMNA, NF1, GHRHR, FGFR1, SHOX, CASR, POU1F1, GH1, GHR, PHEX, FGF23, ANO5, HSPG2, CENPJ, FLNA, ANKRD11, FGD1, SETBP1, LBR, ACTB, ACTG1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, LZTR1, PEX14, PEX19, KAT6B, WDR35, CANT1, PTH1R, MBTPS2, FANCB, EBP, SOX3, NSDHL, POR, MSX2, TWIST1, COMP, SOX9, RASA2, RRAS, CEP152, GLI2, PCNT, ATR, ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, TBX19, LHX4, LHX3, ALX4, EP300, EFNB1, EFTUD2, SH3BP2, GNPAT, TRIM37, GNAS, GJA1, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1, B3GAT3, BGN, SLC29A3, TTC21B, KIF7, IFT43, IFT80, EVC, EVC2, PIK3CA, RBBP8, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, INSR, AKT1, EXT2, EXT1, STAT5B, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, SRCAP, CSPP1, WNT5A, RTTN, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, CCNQ, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, CEP63, CDC45, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, OBSL1, CCDC8, LARP7, POC1A, FAM111A, ENPP1, CLCN5, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FAM20A, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, PTHLH, GDF5, TRAPPC2, IGF1, MATN3, TBX3, IGF1R, DDR2, EOGT, DLX3, MMP13, SNX10, INPPL1, MAFB, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, FAM83H, WDR34, BHLHA9, IGFALS, IHH, XYLT1, LTBP3, DVL1, TBX6, ENAM, NOG, PAPSS2, ACAN, ADAMTS17, KIF22, TBX4, DLL4, EXTL3, NANS, LONP1, CKAP2L, IRS1 Specificity 1 % Genes 100 %
Paget Disease of Bone (Juvenile-Onset) , Sequencing TNFRSF11B Gene. By Reference Laboratory Genetics in Spain. TNFRSF11B Specificity 100 % Genes 50 %
Paget Disease of Bone , Panel Massive Sequencing (NGS) SQSTM1, TNFRSF11A, TNFRSF11B Genes. By Reference Laboratory Genetics in Spain. TNFRSF11A, SQSTM1, TNFRSF11B Specificity 67 % Genes 100 %
TNFRSF11A Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. TNFRSF11A Specificity 100 % Genes 50 %
TNFRSF11A Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. TNFRSF11A Specificity 100 % Genes 50 %
TNFRSF11A Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. TNFRSF11A Specificity 100 % Genes 50 %
TNFRSF11A Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. TNFRSF11A Specificity 100 % Genes 50 %
TNFRSF11A. By Institute for Human Genetics University Clinic Freiburg in Germany. TNFRSF11A Specificity 100 % Genes 50 %
Paget Disease of Bone (sequence analysis of TNFRSF11A gene). By CGC Genetics in Portugal. TNFRSF11A Specificity 100 % Genes 50 %
Osteopetrosis, autosomal recessive 7 (sequence analysis of TNFRSF11A gene). By CGC Genetics in Portugal. TNFRSF11A Specificity 100 % Genes 50 %
Paget Disease of Bone (PDB) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TNFRSF11A, SQSTM1 Specificity 50 % Genes 50 %
Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via the TNFRSF11A Gene. By PreventionGenetics PreventionGenetics in United States. TNFRSF11A Specificity 100 % Genes 50 %
Osteopetrosis Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10 Specificity 8 % Genes 50 %
Osteopetrosis Comprehensive panel. By Connective Tissue Gene Tests in United States. LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10 Specificity 8 % Genes 50 %
Osteopetrosis NGS panel. By Connective Tissue Gene Tests in United States. LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10 Specificity 8 % Genes 50 %
Osteopetrosis autosomal recessive type 7. By Centogene AG - the Rare Disease Company in Germany. TNFRSF11A Specificity 100 % Genes 50 %
OSTEOPETROSIS. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. LRP5, TNFRSF11A, CLCN7, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10 Specificity 13 % Genes 50 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...) View the complete list with 14 more genes Panel GTR000512609 complete gene list ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX, FGF23, ANO5, ZMPSTE24, GNAS, SERPINH1, GORAB, TREM2, NOTCH2, ENPP1, CLCN5, SLC34A3, DMP1, MMP2, MAFB Specificity 3 % Genes 50 %
Paget Disease of Bone NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. TNFRSF11A, SQSTM1 Specificity 50 % Genes 50 %
TNFRSF11A. By Fulgent Genetics Fulgent Genetics in United States. TNFRSF11A Specificity 100 % Genes 50 %
Osteopetrosis NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. LRP5, TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10 Specificity 12 % Genes 50 %
TNFRSF11A Gene Sequencing and Deletion/Duplication. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. TNFRSF11A Specificity 100 % Genes 50 %
FoundationOne® Heme. By Foundation Medicine, Inc. in United States. BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...) View the complete list with 385 more genes Panel GTR000527977 complete gene list BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC, RAF1, IDH2, SDHB, TUSC3, AMER1, BCOR, SOX2, STAT3, MEN1, SDHA, TSHR, FGFR3, AR, FANCC, BLM, BRAF, CREBBP, HRAS, KRAS, MAP2K1, MEF2C, NRAS, PTPN11, FGFR2, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, ALK, ATM, MRE11, PTCH1, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, CHEK2, SMAD4, RAD50, BRIP1, GATA2, PAX5, CEBPA, PRKAR1A, CDC73, BARD1, MPL, BTK, DNM2, NTRK1, NF1, LRRK2, FGFR1, FGF23, PDK1, FGF14, CHD2, GRIN2A, RELN, KMT2D, SETD2, TBL1XR1, ATRX, PHF6, PAK3, KDM5C, SETBP1, ACTB, HGF, SOX10, FGF3, GATA3, S1PR2, MED12, FOXP1, CTNNB1, GATA1, TAF1, ZMYM3, MTOR, ATR, NOTCH1, TGFBR2, DNMT3A, EZH2, MITF, TP63, KDM6A, CTNNA1, MAF, NKX2-1, ERBB3, ARID2, KMT2A, SMARCA4, SMARCB1, ARID1A, NT5C2, FLT4, FGF10, EP300, KIT, ASXL1, JAK3, GNAS, SMAD2, FANCA, FANCG, FANCF, FANCE, FANCL, FANCD2, BAP1, CDKN1B, PIK3CA, MYCN, CSF1R, AKT2, GNAQ, CD36, FLT3, NPM1, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, BCORL1, IL7R, GNA11, PIK3R2, AKT3, AKT1, FAS, CXCR4, STAT5B, NFKBIA, CIITA, PIK3R1, PRKDC, TYK2, NOTCH2, TRAF3, POT1, CARD11, NTRK2, CCND2, MAP3K1, ICK, SRC, CDK6, FBXO31, CTCF, PDGFRB, RAD51, NSD2, WISP3, FLT1, KDR, TNFAIP3, NCSTN, PLCG2, B2M, CD79A, CD79B, DDX3X, KAT6A, MIB1, CCND1, BCL2, HDAC4, CDK12, MALT1, IGF1R, MDM2, DDR2, MAFB, MSH3, ERBB2, CBFB, RARA, TCF3, PTPRO, CDKN2B, SMO, BCL6, MYC, BIRC3, CKS1B, CDKN2C, RNF43, NUP93, CAD, CD70, AXL, CIC, ELP2, MAP3K7, PPP2R1A, ERBB4, EED, KDM5A, RICTOR, CCNE1, KEAP1, NFE2L2, ARAF, BRD4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, ESR1, IRF8, BCL10, XBP1, INHBA, CRLF2, AXIN1, MAP3K14, MAPK1, CRKL, PIK3CG, IRS2, IRF4, IRF1, GSK3B, CD58, NOD1, CD22, CCND3, CDK8, CCT6B, MYO18A, CD274, GADD45B, FOXO3, FRS2, ETS1, TENT5C, FHIT, ERG, FAF1, FBXO11, FGF6, EPHA7, ECT2L, EPHA5, DOT1L, EBF1, EPHA3, EPHB1, PDCD1LG2, PDCD11, DAXX, PBRM1, PDCD1, PASK, PCBP1, PCLO, NUP98, CHEK1, BTG2, MKI67, BCL7A, EMSY, MCL1, BTLA, MAGED1, MAP2K4, MDM4, ARHGAP26, ARFRP1, AURKB, BCL2L2, APH1A, LEF1, LRP1B, JARID2, HSP90AA1, IKZF3, INPP4B, IKBKE, KLHL6, KDM4C, JUN, JAK1, KDM2B, ID3, IKZF2, INPP5D, HIST1H2BJ, HDAC7, HIST1H2AL, HIST1H1E, HIST1H2AM, HIST1H2AC, HIST1H2BC, HIST1H2BO, HIST1H2BK, HIST1H1D, GTSE1, HDAC1, HIST1H1C, HIST1H3B, HIST1H2AG, PRDM1, PIM1, TRAF5, U2AF2, TNFRSF14, TNFRSF17, TRAF2, TMEM30A, ZNF217, XPO1, TLL2, WDR90, ZNF24, YY1AP1, STAT4, SPOP, STAT5A, SOCS1, SPEN, SOCS2, TCL1A, SOCS3, STAT6, SGK1, PRSS8, RASGEF1A, PTPN2, PTPN6, ADGRA2, FOXO1, BCL11B, RHOA, FGF19, BRSK1, ASMTL, DTX1, NCOR2, DUSP2, SUZ12, SMARCA1, FGF4, MAP3K6, P2RY8, TOP1, AURKA, DUSP9, EXOSC6, GNA12, MEF2B, PAG1, FLYWCH1, ZNF703, SERP2, GID4, TMSB4X Specificity 1 % Genes 50 %
OSTEOPETROSIS, AUTOSOMAL RECESSIVE. By Laboratorio de Genetica Clinica SL in Spain. TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10 Specificity 13 % Genes 50 %
Autosomal Recessive Malignant Osteopetrosis Type 7 , Sequencing TNFRSF11A Gene. By Reference Laboratory Genetics in Spain. TNFRSF11A Specificity 100 % Genes 50 %
Paget Disease of Bone , Sequencing TNFRSF11A Gene. By Reference Laboratory Genetics in Spain. TNFRSF11A Specificity 100 % Genes 50 %
Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes. By Reference Laboratory Genetics in Spain. LRP5, TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10 Specificity 12 % Genes 50 %
Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. TYROBP, TNFRSF11A, SQSTM1, TREM2, MMP2, BANF1 Specificity 17 % Genes 50 %

Alternate names

Paget Disease Of Bone 5, Juvenile-onset; Pdb5 Is also known as juvenile paget disease;jpd, hyperostosis corticalis deformans juvenilis, hyperphosphatasia, familial idiopathic, hyperphosphatasemia, chronic congenital idiopathic, osteoectasia, familial;familial osteoectasia; hereditary hyperphosphatasia; hyperostosis corticalis deformans juvenilis; jpg; juvenile paget's disease.

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