Brachydactyly, Type E2; Bde2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Brachydactyly, Type E2; Bde2

PTHLH

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Brachydactyly, Type E2; Bde2

Short stature
Brachydactyly
Delayed eruption of teeth
Short metacarpal
Oligodontia
Short metatarsal

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Brachydactyly, Type E2; Bde2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PTHLH. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). PTHLH Specificity 100 % Genes 100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...) View the complete list with 236 more genes Panel complete gene list RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TGFB1, TGFBR1, TGFBR2, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TRIP11, TRPS1, ACP5, TWIST1, TYROBP, VDR, CCN6, WNT1, WNT3, WNT5A, WNT7A, ZMPSTE24, ADAMTS10, LMBR1, HDAC8, NSDHL, IFT122, CA2, SOST, HDAC4, NSD1, RAB23, ADAMTSL2, ALX1, SNX10, SERPINH1, ANKH, XYLT1, SALL4, HES7, TP63, PCNT, RAB33B, IFITM5, SRCAP, ACVR1, ADAMTS17, ORC6, CHSY1, SP7, CDC6, CDH3, AFF4, B3GALT6, TRPV4, FKBP10, ASXL1, WDR19, PROK2, FKBP14, RIN2, DOCK6, P3H1, SBDS, CHST3, CANT1, EVC2, GREM1, POLR1C, CLCN7, SLC34A3, SMOC1, TGDS, SULF1, POLR1D, SLC35D1, SLC39A13, CUL7, ANKRD11, DYM, OSTM1, LHX4, ADAMTS2, COL10A1, COL11A1, WDR60, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, COL27A1, TRAPPC2, FERMT3, ZNF469, FREM1, CREBBP, CRTAP, BMPER, CHST14, TCTN3, CDT1, SMC3, FAM111A, CTSK, DDX59, CCDC8, TMEM38B, TTC21B, GORAB, IMPAD1, PIGV, CYP27B1, PIEZO2, CEP120, AMER1, ESCO2, DDR2, ANO5, CCNQ, EOGT, DHCR24, DHODH, NIPBL, LEMD3, IFT140, DLL3, OBSL1, ARHGAP31, WDR35, IFT80, DMP1, DYNC2H1, MESP2, TXNL4A, EFTUD2, EBP, ACAN, EFNB1, MEGF8, EIF2AK3, AGPS, ENPP1, EP300, ERF, EVC, EXT1, BHLHA9, EXT2, FBLN1, FBN1, FBN2, FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FMN1, GALNT3, GDF3, GDF5, GDF6, GHSR, GLI3, ALPL, GPC3, GPC6, ALX3, ALX4, RIPK4, HOXA11, HOXA13, HOXD13, HPGD, HSPG2, RBPJ, IHH, INPPL1, IRF6, KIF22, LBR, COG1, LFNG, LIFR, LMX1B, LRP4, LRP5, MATN3, MEOX1, MGP, MMP13, MMP2, MMP9, ARSE, MSX2, MYCN, NEK1, NFIX, NOG, NPPC, NPR2, ORC1, ORC4, PAPSS2, PCYT1A, PDE4D, SERPINF1, PEX7, PHEX, PITX1, PLOD1, PLOD2, PLS3, PPIB, B4GALT7, PRKAR1A, NKX3-2, PTDSS1, PTHLH, PTH1R, RAD21, RASGRP2, RECQL4 Specificity 1 % Genes 100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel. By CeGaT GmbH (Germany). ROR2, BMP2, BMPR1B, WNT10B, WNT7A, LMBR1, TP63, TRPV4, BHLHA9, FBLN1, FGF16, GDF5, GJA1, GLI3, HOXA11, HOXD13, IHH, LRP4, NOG, PTHLH Specificity 5 % Genes 100 %
Limb Malformation: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States). ROR2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, HDAC4, SALL4, TP63, CHSY1, CDH3, GREM1 , (...) View the complete list with 26 more genes Panel complete gene list ROR2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, HDAC4, SALL4, TP63, CHSY1, CDH3, GREM1, PIGV, ESCO2, NIPBL, CEP290, RPGRIP1L, ARHGAP31, CC2D2A, KIF7, FBLN1, FGF10, FGFR2, FGFR3, FMN1, GDF5, GLI3, GNAS, HOXD13, IHH, LRP4, MGP, MKS1, MYCN, NOG, PITX1, PTHLH, RECQL4 Specificity 3 % Genes 100 %
Skeletal Dysplasia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States). ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SHOX, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO , (...) View the complete list with 141 more genes Panel complete gene list ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SHOX, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, TRPS1, ACP5, TYROBP, CCN6, WNT3, WNT5A, WNT7A, ZMPSTE24, LMBR1, IFT122, CA2, SOST, HDAC4, CASR, SERPINH1, ANKH, SALL4, TP63, PCNT, IFITM5, CHSY1, SP7, CDH3, TREM2, CDKN1C, B3GALT6, TRPV4, FKBP10, ATP6V0A2, P3H1, CHST3, CANT1, EVC2, GREM1, CLCN5, CLCN7, SLC34A3, SULF1, SLC35D1, SLC39A13, CUL7, ICK, DYM, OSTM1, COL10A1, COL11A1, COL11A2, COL1A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, FERMT3, CRTAP, CHST14, TCTN3, TMEM216, CTSK, GORAB, PIGV, ESCO2, DDR2, ANO5, TMEM67, DHCR24, NIPBL, LEMD3, CEP290, IFT140, OBSL1, DLX3, RPGRIP1L, ARHGAP31, SH3PXD2B, WDR35, CC2D2A, IFT80, DMP1, DYNC2H1, KIF7, EIF2AK3, ENPP1, EVC, EXT1, EXT2, FBLN1, FBN1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FMN1, GALNT3, GDF5, GLI3, ALPL, GNAS, GPC6, HOXD13, HPGD, HSPG2, IHH, KIF22, MAFB, LIFR, LMNA, LRP4, LRP5, MATN3, MGP, MKS1, MMP13, MMP2, MMP9, MYCN, NEK1, NOG, NOTCH2, NPR2, PAPSS2, PHEX, PITX1, PLOD2, PPIB, B4GALT7, PRKAR1A, NKX3-2, PTHLH, PTH1R, PTPN11, PYCR1, RASGRP2, RECQL4 Specificity 1 % Genes 100 %
Skeletal Dysplasias NGS panel. By Fulgent Genetics Fulgent Genetics (United States). ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO, TNFRSF11A , (...) View the complete list with 139 more genes Panel complete gene list ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, TRPS1, ACP5, TYROBP, CCN6, WNT3, WNT5A, WNT7A, ZMPSTE24, LMBR1, IFT122, CA2, SOST, HDAC4, CASR, SERPINH1, ANKH, SALL4, TP63, PCNT, IFITM5, CHSY1, SP7, CDH3, TREM2, CDKN1C, B3GALT6, TRPV4, FKBP10, ATP6V0A2, P3H1, CHST3, CANT1, EVC2, GREM1, CLCN5, CLCN7, SLC34A3, SULF1, SLC35D1, SLC39A13, CUL7, ICK, DYM, OSTM1, COL10A1, COL11A1, COL11A2, COL1A2, FAM20C, COL9A1, COL9A2, COL9A3, COMP, FERMT3, CRTAP, CHST14, TMEM216, CTSK, GORAB, PIGV, ESCO2, DDR2, ANO5, TMEM67, DHCR24, NIPBL, LEMD3, CEP290, IFT140, OBSL1, DLX3, RPGRIP1L, ARHGAP31, SH3PXD2B, WDR35, CC2D2A, IFT80, DMP1, DYNC2H1, KIF7, EIF2AK3, ENPP1, EVC, EXT1, EXT2, FBLN1, FBN1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FMN1, GALNT3, GDF5, GLI3, ALPL, GNAS, GPC6, HOXD13, HPGD, HSPG2, IHH, KIF22, MAFB, LIFR, LMNA, LRP4, LRP5, MATN3, MGP, MKS1, MMP13, MMP2, MMP9, MYCN, NEK1, NOG, NOTCH2, NPR2, PAPSS2, PHEX, PITX1, PLOD2, PPIB, B4GALT7, PRKAR1A, NKX3-2, PTHLH, PTH1R, PTPN11, PYCR1, RASGRP2, RECQL4 Specificity 1 % Genes 100 %
PTHLH. By Fulgent Genetics Fulgent Genetics (United States). PTHLH Specificity 100 % Genes 100 %
Brachydactyly / Syndactyly Panel. By Blueprint Genetics (Finland). ROR2, BMP2, BMPR1B, SOX9, TP63, CHSY1, ESCO2, CCNQ, DHCR7, GDF5, GNAS, HOXA13, HOXD13, IHH, MYCN, NOG, PDE4D, PTDSS1, PTHLH, RECQL4 Specificity 5 % Genes 100 %

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Sources and references

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