Spondylocostal Dysostosis 1, Autosomal Recessive; Scdo1

Description

The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by Gucev et al., 2010). Genetic Heterogeneity of Spondylocostal DysostosisOther forms of SCDO include SCDO2 (OMIM ), caused by mutation in the MESP2 gene (OMIM ) on chromosome 15q26; SCDO3 (OMIM ), caused by mutation in the LFNG gene (OMIM ) on chromosome 7p22; SCDO4 (OMIM ), caused by mutation in the HES7 gene (OMIM ) on chromosome 17p13; SCDO5 (OMIM ), caused by mutation in the TBX6 gene (OMIM ) on chromosome 16p11; and SCDO6 (OMIM ), caused by mutation in the RIPPLY2 gene (OMIM ) on chromosome 6q14.

Genes related to Spondylocostal Dysostosis 1, Autosomal Recessive; Scdo1

RIPPLY2
MESP2
LFNG
HES7
DLL3

Clinical Features

Top most frequent phenotypes and symptoms related to Spondylocostal Dysostosis 1, Autosomal Recessive; Scdo1

Intellectual disability
Short stature
Pica
Microcephaly
Scoliosis
Cleft palate
Cryptorchidism
Milia
Depressed nasal bridge
Intrauterine growth retardation

And another 51 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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Spondylocostal Dysostosis 1, Autosomal Recessive; Scdo1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Klippel-Feil syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. GDF6, GDF3, MEOX1, RIPPLY2, MYO18B Specificity 20 % Genes 20 %
Spondylocostal dysostosis (NGS panel of 6 genes). By CGC Genetics in Portugal. MESP2, HES7, LFNG, DLL3, RIPPLY2, TBX6 Specificity 84 % Genes 100 %
Spondylocostal dysostosis (NGS panel of 6 genes). By CGC Genetics in Portugal. MESP2, HES7, LFNG, DLL3, RIPPLY2, TBX6 Specificity 84 % Genes 100 %
Klippel-Feil syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. GDF6, GDF3, MEOX1, RIPPLY2, MYO18B Specificity 20 % Genes 20 %
Spondylocostal dysostosis Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. MESP2, HES7, LFNG, DLL3, RIPPLY2, TBX6 Specificity 84 % Genes 100 %
Spondylocostal dysostosis Comprehensive panel. By Connective Tissue Gene Tests in United States. MESP2, HES7, LFNG, DLL3, RIPPLY2, TBX6 Specificity 84 % Genes 100 %
Spondylocostal dysostosis NGS panel. By Connective Tissue Gene Tests in United States. MESP2, HES7, LFNG, DLL3, RIPPLY2, TBX6 Specificity 84 % Genes 100 %
Klippel-Feil syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. GDF6, GDF3, MEOX1, RIPPLY2, MYO18B Specificity 20 % Genes 20 %
Klippel-Feil syndrome NGS panel. By Connective Tissue Gene Tests in United States. GDF6, GDF3, MEOX1, RIPPLY2, MYO18B Specificity 20 % Genes 20 %
Klippel-Feil syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. GDF6, GDF3, MEOX1, RIPPLY2, MYO18B Specificity 20 % Genes 20 %
MESP2 - Jarcho-Levin. By Centre of Molecular Diseases (CMM) CHUV in Switzerland. MESP2 Specificity 100 % Genes 20 %
MESP2 - Spondylocostal dysostosis 2. By Centre of Molecular Diseases (CMM) CHUV in Switzerland. MESP2 Specificity 100 % Genes 20 %
MESP2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. MESP2 Specificity 100 % Genes 20 %
HES7, MESP2, LFNG, DLL3. NextGeneDx. Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. MESP2, HES7, LFNG, DLL3 Specificity 100 % Genes 80 %
Spondylocostal dysostosis type 2 AR (sequence analysis of MESP2 gene). By CGC Genetics in Portugal. MESP2 Specificity 100 % Genes 20 %
MESP2-Related Spondylocostal Dysostosis, Autosomal Recessive. By Exeter Molecular Genetics Laboratory in United Kingdom. MESP2 Specificity 100 % Genes 20 %
Spondylocostal Dysostosis and Spondylothoracic Dysostosis via MESP2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MESP2 Specificity 100 % Genes 20 %
Spondylocostal Dysostosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MESP2, HES7, LFNG, DLL3, TBX6 Specificity 80 % Genes 80 %
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 2 % Genes 80 %
Spondylocostal dysostosis, autosomal recessive type II. By Centogene AG - the Rare Disease Company in Germany. MESP2 Specificity 100 % Genes 20 %
Congenital disorder of O-linked glycosylation (CDG). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1 , (...) View the complete list with 9 more genes Panel GTR000531638 complete gene list B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1, MESP2, HES7, LFNG, CHST3, DLL3, GALNT3, SLC35D1, KL, XYLT1 Specificity 14 % Genes 80 %
Spondylocostal dysostosis, autosomal recessive. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MESP2, HES7, LFNG, DLL3 Specificity 100 % Genes 80 %
Disproportionate Short Stature: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...) View the complete list with 65 more genes Panel GTR000512595 complete gene list ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2, FLNA, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, WDR35, CANT1, PTH1R, EBP, COMP, SOX9, PCNT, DYM, CHST14, GLI3, IFT140, SH3PXD2B, BMPR1B, IFT80, EVC, EVC2, B3GALT6, IFT122, EIF2AK3, DHCR24, EXT2, EXT1, SMARCAL1, TCTN3, WNT5A, DYNC2H1, ROR2, ICK, NEK1, ARSE, CUL7, OBSL1, TBCE, MESP2, HES7, LFNG, GPC6, CHST3, NKX3-2, DLL3, ACP5, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, GDF5, MATN3, DDR2, MMP13, MMP9, NPR2, IHH, TBX6, PAPSS2, ACAN, KIF22, SULF1 Specificity 5 % Genes 80 %
Spondylocostal Dysostosis NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MESP2, LFNG, DLL3 Specificity 100 % Genes 60 %
MESP2. By Fulgent Genetics Fulgent Genetics in United States. MESP2 Specificity 100 % Genes 20 %
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 40 %
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 40 %
Autosomal recessive spondylocostal dysostosis type 2. By Bioarray in Spain. MESP2 Specificity 100 % Genes 20 %
Autosomal recessive spondylocostal dysostosis type 2. By Bioarray in Spain. MESP2 Specificity 100 % Genes 20 %
SPONDYLOCOSTAL DYSOSTOSIS (SYNDROME DE JARCHO-LEVIN). By Laboratorio de Genetica Clinica SL in Spain. MESP2, HES7, LFNG, DLL3 Specificity 100 % Genes 80 %
Autosomal Recessive Spondylocostal Dysostosis Type 2 , Sequencing MESP2 Gene. By Reference Laboratory Genetics in Spain. MESP2 Specificity 100 % Genes 20 %
Spondylocostal Dysostosis , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. MESP2, HES7, LFNG, DLL3, TBX6 Specificity 80 % Genes 80 %
Spondylocostal Dysostosis, Autosomal Recessive: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. MESP2, HES7, LFNG, DLL3 Specificity 100 % Genes 80 %
LFNG - Spondylocostal dysostosis 3. By Centre of Molecular Diseases (CMM) CHUV in Switzerland. LFNG Specificity 100 % Genes 20 %
LFNG. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. LFNG Specificity 100 % Genes 20 %
Spondylocostal dysostosis type 3 AR (sequence analysis of LFNG gene). By CGC Genetics in Portugal. LFNG Specificity 100 % Genes 20 %
LFNG-Related Spondylocostal Dysostosis, Autosomal Recessive. By Exeter Molecular Genetics Laboratory in United Kingdom. LFNG Specificity 100 % Genes 20 %
Spondylocostal Dysostosis via the LFNG Gene. By PreventionGenetics PreventionGenetics in United States. LFNG Specificity 100 % Genes 20 %
Spondylocostal dysostosis, autosomal recessive type III. By Centogene AG - the Rare Disease Company in Germany. LFNG Specificity 100 % Genes 20 %
Congenital Disorders of Glycosylation: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1 , (...) View the complete list with 46 more genes Panel GTR000512591 complete gene list B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3, SLC35C1, MGAT2, PMM2, DOLK, DPAGT1, MOGS, FKTN, POMGNT1, FKRP, POMT2, POMT1, GFPT1, LARGE1, ST3GAL5, ALG13, PIGO, ST3GAL3, PIGA, PIGV, CHSY1, SEC23B, CHST14, CHST6, B3GAT3, COG4, ALG11, COG6, COG5, TMEM165, B3GLCT, EXT2, EXT1, PIGL, ALG14, MAN1B1, LFNG, CHST3, GALNT3, SLC35D1, NGLY1, RPN2, PIGM Specificity 2 % Genes 20 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1 , (...) View the complete list with 45 more genes Panel GTR000558834 complete gene list B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3, SLC35C1, MGAT2, PMM2, DOLK, DPAGT1, MOGS, FKTN, POMGNT1, FKRP, POMT2, POMT1, GFPT1, LARGE1, ST3GAL5, ALG13, PIGO, ST3GAL3, PIGA, PIGV, CHSY1, SEC23B, CHST14, CHST6, B3GAT3, COG4, ALG11, COG6, COG5, TMEM165, B3GLCT, EXT2, EXT1, PIGL, ALG14, MAN1B1, LFNG, CHST3, GALNT3, SLC35D1, NGLY1, RPN2, PIGM Specificity 2 % Genes 20 %
LFNG. By Fulgent Genetics Fulgent Genetics in United States. LFNG Specificity 100 % Genes 20 %
Autosomal recessive spondylocostal dysostosis type 3. By Bioarray in Spain. LFNG Specificity 100 % Genes 20 %
Autosomal recessive spondylocostal dysostosis type 3. By Bioarray in Spain. LFNG Specificity 100 % Genes 20 %
Autosomal Recessive Spondylocostal Dysostosis Type 3 , Sequencing LFNG Gene. By Reference Laboratory Genetics in Spain. LFNG Specificity 100 % Genes 20 %
HES7 - Spondylocostal dysostosis 4, autosomal recessive. By Centre of Molecular Diseases (CMM) CHUV in Switzerland. HES7 Specificity 100 % Genes 20 %
HES7. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. HES7 Specificity 100 % Genes 20 %
Spondylocostal dysostosis 4, AR (sequence analysis of HES7 gene). By CGC Genetics in Portugal. HES7 Specificity 100 % Genes 20 %
HES7-Related Spondylocostal Dysostosis, Autosomal Recessive. By Exeter Molecular Genetics Laboratory in United Kingdom. HES7 Specificity 100 % Genes 20 %
Spondylocostal Dysostosis via HES7 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. HES7 Specificity 100 % Genes 20 %
HES7. By Fulgent Genetics Fulgent Genetics in United States. HES7 Specificity 100 % Genes 20 %
Autosomal recessive spondylocostal dysostosis type 4. By Bioarray in Spain. HES7 Specificity 100 % Genes 20 %
Autosomal recessive spondylocostal dysostosis type 4. By Bioarray in Spain. HES7 Specificity 100 % Genes 20 %
Autosomal Recessive Spondylocostal Dysostosis Type 4 , Sequencing HES7 Gene. By Reference Laboratory Genetics in Spain. HES7 Specificity 100 % Genes 20 %
DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive. By Centre of Molecular Diseases (CMM) CHUV in Switzerland. DLL3 Specificity 100 % Genes 20 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes). By ARUP Laboratories, Molecular Genetics and Genomics in United States. ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...) View the complete list with 19 more genes Panel GTR000522271 complete gene list ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35, EBP, POR, COMP, SOX9, WDR19, GNPAT, SERPINH1, TTC21B, IFT80, EVC, EVC2, DYNC2H1, NEK1, ARSE, DLL3, FLNB, LIFR, SLC35D1, TRIP11 Specificity 3 % Genes 20 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal. By ARUP Laboratories, Molecular Genetics and Genomics in United States. ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...) View the complete list with 19 more genes Panel GTR000522272 complete gene list ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35, EBP, POR, COMP, SOX9, WDR19, GNPAT, SERPINH1, TTC21B, IFT80, EVC, EVC2, DYNC2H1, NEK1, ARSE, DLL3, FLNB, LIFR, SLC35D1, TRIP11 Specificity 3 % Genes 20 %
DLL3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. DLL3 Specificity 100 % Genes 20 %
Spondylocostal dysostosis type 1, AR (sequence analysis of DLL3 gene). By CGC Genetics in Portugal. DLL3 Specificity 100 % Genes 20 %
DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive. By Exeter Molecular Genetics Laboratory in United Kingdom. DLL3 Specificity 100 % Genes 20 %
Spondylocostal Dysostosis via DLL3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DLL3 Specificity 100 % Genes 20 %
Spondylocostal dysostosis, autosomal recessive type 1. By Centogene AG - the Rare Disease Company in Germany. DLL3 Specificity 100 % Genes 20 %
Potentially lethal skeletal disorders Panel. By CeGaT GmbH in Germany. ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...) View the complete list with 24 more genes Panel GTR000527958 complete gene list ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2, CANT1, PTH1R, EBP, NSDHL, SOX9, GLI3, GNPAT, IFT80, TCTN3, DYNC2H1, WNT7A, NEK1, ARSE, BMPER, RNU4ATAC, FAM111A, DLL3, FLNB, LIFR, SLC35D1, TRIP11, GDF5, INPPL1, WDR34 Specificity 3 % Genes 20 %
Spondylocostal dysostosis type 1, autosomal recessive: DLL3 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. DLL3 Specificity 100 % Genes 20 %
DLL3. By Fulgent Genetics Fulgent Genetics in United States. DLL3 Specificity 100 % Genes 20 %
Facial Dysostosis and Related Disorders Panel. By Blueprint Genetics in Finland. ALPL, DHODH, CREBBP, HDAC8, SMC3, SMC1A, NIPBL, HSPG2, POLR1C, TCOF1, POLR1D, EHMT1, UBE2A, TWIST1, ALX4, EP300, EFNB1, EFTUD2, EVC, EVC2 , (...) View the complete list with 6 more genes Panel GTR000552638 complete gene list ALPL, DHODH, CREBBP, HDAC8, SMC3, SMC1A, NIPBL, HSPG2, POLR1C, TCOF1, POLR1D, EHMT1, UBE2A, TWIST1, ALX4, EP300, EFNB1, EFTUD2, EVC, EVC2, MYCN, SRCAP, ALX3, SF3B4, DLL3, LIFR Specificity 4 % Genes 20 %
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 1 % Genes 20 %
Autosomal recessive spondylocostal dysostosis type 1. By Bioarray in Spain. DLL3 Specificity 100 % Genes 20 %
Autosomal recessive spondylocostal dysostosis type 1. By Bioarray in Spain. DLL3 Specificity 100 % Genes 20 %
Autosomal Recessive Spondylocostal Dysostosis Type 1, Sequencing DLL3 Gene. By Reference Laboratory Genetics in Spain. DLL3 Specificity 100 % Genes 20 %

Alternate names

Spondylocostal Dysostosis 1, Autosomal Recessive; Scdo1 Is also known as vertebral anomalies, jarcho-levin syndrome, spondylothoracic dysplasia, costovertebral dysplasia, spondylothoracic dysostosis;jarcho-levin syndrome.

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