Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness; Edmmd

Description

Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

Clinical Features

Top most frequent phenotypes and symptoms related to Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness; Edmmd

  • Short stature
  • Hearing impairment
  • Cataract
  • Brachydactyly
  • Myopia
  • Narrow mouth
  • Conductive hearing impairment
  • Genu valgum
  • Flat face
  • Short palm
And another 10 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available there are 1 families with Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness; Edmmd in Europe.


Mendelian

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Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness; Edmmd 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
Specificity
1 %
Genes
100 %
COL2A1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

COL2A1
Specificity
100 %
Genes
100 %
COL2A1 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

COL2A1
Specificity
100 %
Genes
100 %
COL2A1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL2A1
Specificity
100 %
Genes
100 %
COL2A1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL2A1
Specificity
100 %
Genes
100 %
COL2A1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

COL2A1
Specificity
100 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
100 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
NGS Skeletal Dysplasia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, TRPV4, HSPG2, FLNA, COMP, SOX9
Specificity
10 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GAA, COL2A1, PSAP, GNPTAB, GLB1, GNE, SMPD1, CTSD, HEXA, GM2A, HEXB, PHYH, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, TGFB2, NOTCH1, SMAD3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Stickler Syndrome Types 1, 2, and 3 (COL2A1, COL11A1, COL11A2).

By Center for Human Genetics, Inc in United States.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
100 %
Kniest Dysplasia.

By Center for Human Genetics, Inc in United States.

COL2A1
Specificity
100 %
Genes
100 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc in United States.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, COL5A1, COL5A2, FLNA, COL11A1, COL11A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, MYH11, PRKG1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
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
Specificity
3 %
Genes
100 %
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
Specificity
3 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
COL2A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1
Specificity
100 %
Genes
100 %
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ALPL, COL2A1, COL1A1, COL1A2, CRTAP, FGFR3, SLC26A2, SOX9
Specificity
13 %
Genes
100 %
COL2A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1
Specificity
100 %
Genes
100 %
COL11A1, COL11A2, COL2A1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
100 %
COL2A1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1
Specificity
100 %
Genes
100 %
COL2A1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1
Specificity
100 %
Genes
100 %
COL2A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Stickler syndrome Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Stickler syndrome Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Stickler Syndrome Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Type II Collagenopathies.

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
COL2A1-related Stickler syndrome.

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
Achondrogenesis type 2 (sequence analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
Kniest Dysplasia (sequence analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
Stickler syndrome (sequence analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepiphyseal Dysplasia Congenita (sequence analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
Epiphyseal dysplasia multiple (sequence analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Epiphyseal dysplasia multiple (NGS panel for 7 gene).

By CGC Genetics in Portugal.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)

View the complete list with 107 more genes
Specificity
1 %
Genes
100 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics in Portugal.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Stickler syndrome (NGS panel for 5 genes).

By CGC Genetics in Portugal.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Stickler syndrome type 1 (deletion/duplication analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (sequence analyis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (deletion/duplication analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (deletion/duplication analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (sequence analyis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
100 %
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LRP5, COL2A1, ATP6V0A2, NDP, TSPAN12, FZD4, ISPD, CTNNB1, ZNF408, KIF11, RCBTB1, VCAN, ATOH7, CAPN5
Specificity
8 %
Genes
100 %
Multiple Epiphyseal Dysplasia Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
Stickler Syndrome Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, LRP2, VCAN
Specificity
12 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
COL2A1-Related Disorders via the COL2A1 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL2A1
Specificity
100 %
Genes
100 %
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
Specificity
1 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Achondrogenesis Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, TRIP11
Specificity
34 %
Genes
100 %
Achondrogenesis NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, TRIP11
Specificity
34 %
Genes
100 %
Achondrogenesis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, TRIP11
Specificity
34 %
Genes
100 %
Cleft lip, cleft palate and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
100 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
100 %
Cleft lip, cleft palate and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
100 %
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, CANT1, COMP, MATN3
Specificity
13 %
Genes
100 %
Multiple epiphyseal dysplasia (MED) NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, CANT1, COMP, MATN3
Specificity
13 %
Genes
100 %
Multiple epiphyseal dysplasia (MED) Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Stickler syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN
Specificity
13 %
Genes
100 %
Vitreoretinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
100 %
Skeletal dysplasia core & extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Skeletal dysplasia core & extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Vitreoretinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
100 %
Skeletal dysplasia core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
100 %
Skeletal dysplasia core NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
100 %
Stickler syndrome core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia core & extended NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Stickler syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN
Specificity
13 %
Genes
100 %
Stickler syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN
Specificity
13 %
Genes
100 %
Stickler syndrome core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
100 %
Vitreoretinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
100 %
Stickler syndrome core NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
100 %
Skeletal dysplasia core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
100 %
Spondyloepimetaphyseal dysplasia, Strudwick type Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepimetaphyseal dysplasia, Strudwick type.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepimetaphyseal dysplasia, Strudwick type Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Platyspondylic lethal skeletal dysplasia, Torrance type Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia congenita Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia congenita.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Platyspondylic lethal skeletal dysplasia, Torrance type Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Platyspondylic lethal skeletal dysplasia, Torrance type.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia congenita Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloperipheral dysplasia NGS test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia congenita NGS test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloperipheral dysplasia Comprehensive test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Stickler syndrome, type I NGS test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloperipheral dysplasia Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepimetaphyseal dysplasia, Strudwick type NGS test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Stickler syndrome, type I Comprehensive test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepimetaphyseal dysplasia, Strudwick type Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepimetaphyseal dysplasia, Strudwick type Comprehensive test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Stickler syndrome, type I Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia congenita Comprehensive test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia congenita Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
100 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Ectopia Lentis.

By MGZ Medical Genetics Center in Germany.

COL2A1, FBN1, CBS, COL11A1, COL18A1, ADAMTSL4, ADAMTS10, ASPH, VCAN, ADAMTS17
Specificity
10 %
Genes
100 %
COL2A1-Related Stickler Syndrome.

By MGZ Medical Genetics Center in Germany.

COL2A1
Specificity
100 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
100 %
Stickler Syndrome / High Myopia.

By MGZ Medical Genetics Center in Germany.

COL2A1, FBN1, COL5A1, COL5A2, COL9A1, COL9A3, COL9A2, COL11A1, COL18A1, VCAN, P3H2
Specificity
10 %
Genes
100 %
COL2A1-Related Stickler Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL2A1
Specificity
100 %
Genes
100 %
Type II Collagenopathies.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL2A1
Specificity
100 %
Genes
100 %
Vitreoretinopathy and Wagner syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN
Specificity
17 %
Genes
100 %
Stickler syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

COL2A1
Specificity
100 %
Genes
100 %
Stickler Syndrome.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
COL2A1 related disorders.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

COL2A1
Specificity
100 %
Genes
100 %
Syndromic Hearing Loss Panel.

By CeGaT GmbH in Germany.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Stickler Syndrome Panel.

By CeGaT GmbH in Germany.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Stickler Syndrome Panel.

By CeGaT GmbH in Germany.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Familial Exudative Vitreoretinopathy and Wagner syndrome Panel.

By CeGaT GmbH in Germany.

LRP5, COL2A1, NDP, TSPAN12, FZD4, ZNF408, VCAN, CAPN5
Specificity
13 %
Genes
100 %
Single gene testing COL2A1.

By CeGaT GmbH in Germany.

COL2A1
Specificity
100 %
Genes
100 %
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel.

By CeGaT GmbH in Germany.

COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Multiple epiphyseal dysplasia and pseudoachondroplasia Panel.

By CeGaT GmbH in Germany.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, PTH1R, COMP, MATN3
Specificity
13 %
Genes
100 %
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
Specificity
3 %
Genes
100 %
Skeletal Dysplasia.

By Asper Biogene Asper Biogene LLC in Estonia.

ALPL, COL2A1, FGFR3, FGFR2, SLC26A2, SOX9, WNT5A, ESCO2, ROR2, TRIP11
Specificity
10 %
Genes
100 %
Stickler Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2
Specificity
17 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Vitreoretinopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, LRP5, COL2A1, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5, NDP-AS1
Specificity
6 %
Genes
100 %
Stickler syndrome gene panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
100 %
COL2A1 screening.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL2A1
Specificity
100 %
Genes
100 %
COL2A1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL2A1
Specificity
100 %
Genes
100 %
Type II collagenopathies, collagen type 2 alpha 1, COL2A1 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

COL2A1
Specificity
100 %
Genes
100 %
Vitreoretinopathy panel.

By Molecular Vision Laboratory in United States.

LRP5, COL2A1, NDP, KCNJ13, TSPAN12, FZD4, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, ATOH7, CAPN5
Specificity
6 %
Genes
100 %
Achondrogenesis, type II or hypochondrogenesis.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
Czech dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
Epiphyseal dysplasia, multiple, with myopia and deafness.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
Kniest dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
Legg-Calve-Perthes disease.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
Osteoarthritis with mild chondrodysplasia.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
Otospondylomegaepiphyseal dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
Platyspondylic skeletal dysplasia, Torrance type.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
SED congenita.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
SMED Strudwick type.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloperipheral dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
Stickler sydrome, type I.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
Stickler sydrome, type I, nonsyndromic ocular.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Achondrogenesis, type II or hypochondrogenesis.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
Czech dysplasia.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
Epiphyseal dysplasia, multiple, with myopia and deafness.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
Kniest dysplasia.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
Legg-Calve-Perthes disease.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
Osteoarthritis with mild chondrodysplasia.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
Otospondylomegaepiphyseal dysplasia.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
Platyspondylic skeletal dysplasia, Torrance type.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
SED congenita.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
SMED Strudwick type.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloperipheral dysplasia.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
Stickler sydrome, type I.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
Stickler sydrome, type I, nonsyndromic ocular.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
100 %
Achondrogenesis type 2: COL2A1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Kniest dysplasia: COL2A1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Stickler syndrome, type I: COL2A1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Multiple epiphyseal dysplasia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
Stickler syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2
Specificity
17 %
Genes
100 %
Skeletal dysplasias.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Vitreoretinopathy and Wagner syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN
Specificity
17 %
Genes
100 %
NGS panel - Stickler syndrome and related disorders.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, VCAN
Specificity
13 %
Genes
100 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
100 %
Stickler Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Vitreoretinopathy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LRP5, COL2A1, NDP, KCNJ13, TSPAN12, FZD4, COL9A1, COL11A1, VCAN
Specificity
12 %
Genes
100 %
Multiple Epiphyseal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
Connective Tissue Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
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
Specificity
2 %
Genes
100 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 more genes
Specificity
1 %
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
Specificity
1 %
Genes
100 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Connective Tissue Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
100 %
Connective Tissue NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL4A1, COL11A1, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Vitreoretinopathy and Wagner Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN
Specificity
17 %
Genes
100 %
Stickler Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Multiple Epiphyseal Dysplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
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
Specificity
1 %
Genes
100 %
COL2A1.

By Fulgent Genetics Fulgent Genetics in United States.

COL2A1
Specificity
100 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel.

By Blueprint Genetics in Finland.

COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, BGN, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Marfan Syndrome Panel.

By Blueprint Genetics in Finland.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, COL11A1, COL11A2, MED12, UPF3B, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
100 %
Stickler Syndrome Panel.

By Blueprint Genetics in Finland.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LRP2, VCAN
Specificity
13 %
Genes
100 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
Aorta Panel.

By Blueprint Genetics in Finland.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos Syndrome Panel.

By Blueprint Genetics in Finland.

ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Vitreoretinopathy Panel.

By Blueprint Genetics in Finland.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CTNNB1, ZNF408, KIF11, CTC1, COL18A1, VCAN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
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
Specificity
1 %
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
Specificity
1 %
Genes
100 %
Cleft Lip/Palate and Associated Syndromes Panel.

By Blueprint Genetics in Finland.

COL2A1, KMT2D, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, KDM6A, SATB2, IRF6, FOXE1, GRHL3, MSX1, TGDS, TBX22
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
Specificity
1 %
Genes
100 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Achondrogenesis type 2.

By Bioarray in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Stickler syndrome type I.

By Bioarray in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia congenita.

By Bioarray in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia congenita.

By Bioarray in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
STICKLER SYNDROME (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
100 %
ACHONDROGENESIS TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1
Specificity
100 %
Genes
100 %
STICKLER SYNDROME: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
KNIEST DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1
Specificity
100 %
Genes
100 %
SPONDYLOEPIPHYSEAL DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Alport & Stickler syndrome hearing loss panel.

By LifeLabs Genetics in Canada.

COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A2, EDNRB
Specificity
13 %
Genes
100 %
Stickler Syndrome panel.

By LifeLabs Genetics in Canada.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Stickler Syndrome panel.

By LifeLabs Genetics in Canada.

COL2A1
Specificity
100 %
Genes
100 %
Achondrogenesis, type II.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Avascular necrosis of the head of femur.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Czech dysplasia metatarsal type.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Epiphyseal dysplasia, multiple, with myopia and conductive deafness.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Kniest dysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Coxa plana.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Osteoarthritis with mild chondrodysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Otospondylomegaepiphyseal dysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Platyspondylic lethal skeletal dysplasia Torrance type.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia congenita.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Osteoarthritis with mild chondrodysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepimetaphyseal dysplasia Strudwick type.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia, stanescu type.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Spondyloperipheral dysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Stickler syndrome, type I, nonsyndromic ocular.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Vitreoretinopathy with phalangeal epiphyseal dysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
100 %
Achondrogenesis Type 2, Sequencing COL2A1 Gene.

By Reference Laboratory Genetics in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Stickler Syndrome Type I , Deletions-Duplications (MLPA) COL2A1 Gene.

By Reference Laboratory Genetics in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Kniest Dysplasia, Massive Sequencing (NGS) COL2A1 Gene.

By Reference Laboratory Genetics in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Multiple Epiphyseal Dysplasia , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

COL2A1, TRPV4, LPIN2, WISP3, IL1RN, HPGD, ACAN
Specificity
15 %
Genes
100 %
Stickler Syndrome , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL9A1, COL9A2, COL11A1, COL11A2, TGFB2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Stickler Syndrome Type I , Sequencing COL2A1 Gene.

By Reference Laboratory Genetics in Spain.

COL2A1
Specificity
100 %
Genes
100 %
Achondrogenesis/Hypochondrogenesis , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

COL2A1, SLC26A2, COL11A1, COL11A2, TRIP11
Specificity
20 %
Genes
100 %

Alternate names

Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness; Edmmd Is also known as ;multiple epiphyseal dysplasia-myopia-deafness syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUROBLASTOMA, SUSCEPTIBILITY TO MCCUNE-ALBRIGHT SYNDROME CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD

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