Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive; Osmedb

Description

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005).

Clinical Features

Top most frequent phenotypes and symptoms related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive; Osmedb

  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Ptosis
  • Cleft palate
  • Flexion contracture
And another 56 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.


Mendelian

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Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive; Osmedb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 Hearing Loss Panel.

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

USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2 , (...)

View the complete list with 71 more genes
Specificity
2 %
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 %
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 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

USH1G, USH1C, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, HARS2, GJB2, GJB6, ACTG1, COCH, CLDN14, CCDC50 , (...)

View the complete list with 36 more genes
Specificity
2 %
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 %
FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS.

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

FGFR2, COL11A1, COL11A2, COMP, EVC, EVC2, TRIP11
Specificity
15 %
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 %
COL11A2. Complete sequencing.

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

COL11A2
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 %
Weissenbacher-Zweymuller Syndrome (sequence analysis of COL11A2 gene).

By CGC Genetics in Portugal.

COL11A2
Specificity
100 %
Genes
100 %
Stickler syndrome type III (sequence analysis of COL11A2 gene).

By CGC Genetics in Portugal.

COL11A2
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 %
Non syndromic deafness AD (NGS panel for 33 genes).

By CGC Genetics in Portugal.

EYA4, WFS1, DIABLO, MYO7A, GJB2, GJB6, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL11A2, CRYM, DSPP, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Non syndromic deafness AR and XL (NGS panel for 56 genes).

By CGC Genetics in Portugal.

USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, CIB2, CABP2, CLDN14, CLIC5, GIPC3, HGF, MYO3A , (...)

View the complete list with 36 more genes
Specificity
2 %
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 %
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes).

By CGC Genetics in Portugal.

USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, ACTG1, CIB2, CABP2, COCH , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Deafness, autosomal dominant 13 (sequence analysis of COL11A2 gene).

By CGC Genetics in Portugal.

COL11A2
Specificity
100 %
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 III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL11A2
Specificity
100 %
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 %
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 %
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 %
Fibrochondrogenesis NGS panel.

By Connective Tissue Gene Tests in United States.

COL11A1, COL11A2
Specificity
50 %
Genes
100 %
Fibrochondrogenesis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL11A1, COL11A2
Specificity
50 %
Genes
100 %
Fibrochondrogenesis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL11A1, COL11A2
Specificity
50 %
Genes
100 %
Skeletal dysplasia extended NGS panel.

By Connective Tissue Gene Tests in United States.

COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9
Specificity
6 %
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 extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9
Specificity
6 %
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 %
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 %
Skeletal dysplasia extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9
Specificity
6 %
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 %
Stickler syndrome, type III Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL11A2
Specificity
100 %
Genes
100 %
Otospondylomegaepiphyseal dysplasia Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL11A2
Specificity
100 %
Genes
100 %
Stickler syndrome, type III Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL11A2
Specificity
100 %
Genes
100 %
Otospondylomegaepiphyseal dysplasia Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL11A2
Specificity
100 %
Genes
100 %
Fibrochondrogenesis 2 NGS Test.

By Connective Tissue Gene Tests in United States.

COL11A2
Specificity
100 %
Genes
100 %
Stickler syndrome, type III NGS Test.

By Connective Tissue Gene Tests in United States.

COL11A2
Specificity
100 %
Genes
100 %
Fibrochondrogenesis 2 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL11A2
Specificity
100 %
Genes
100 %
Fibrochondrogenesis 2 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL11A2
Specificity
100 %
Genes
100 %
Otospondylomegaepiphyseal dysplasia NGS Test.

By Connective Tissue Gene Tests in United States.

COL11A2
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 %
DFNA13 Nonsyndromic Hearing Loss and Deafness.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL11A2
Specificity
100 %
Genes
100 %
Fibrochondrogenesis 2.

By Centogene AG - the Rare Disease Company in Germany.

COL11A2
Specificity
100 %
Genes
100 %
Otospondylomegaepiphyseal dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

COL11A2
Specificity
100 %
Genes
100 %
Deafness, non-syndromic sensorineural AR panel.

By Centogene AG - the Rare Disease Company in Germany.

USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Deafness type 53.

By Centogene AG - the Rare Disease Company in Germany.

COL11A2
Specificity
100 %
Genes
100 %
Stickler syndrome III.

By Centogene AG - the Rare Disease Company in Germany.

COL11A2
Specificity
100 %
Genes
100 %
Deafness, autosomal dominant type 13.

By Centogene AG - the Rare Disease Company in Germany.

COL11A2
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 %
Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, CIB2, CABP2, CLDN14, CLIC5, GIPC3, HGF, MYO3A, MYO6, MYO15A , (...)

View the complete list with 33 more genes
Specificity
2 %
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 %
Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

EYA4, WFS1, DIABLO, MYO7A, GJB2, GJB6, POU3F4, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL4A6, COL11A2, CRYM, DSPP, DIAPH1, KCNQ4, SLC17A8, TECTA , (...)

View the complete list with 15 more genes
Specificity
3 %
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 %
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 %
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 %
Sensorineural Hearing Loss.

By Asper Biogene Asper Biogene LLC in Estonia.

USH1G, USH1C, PDZD7, EYA4, TRMU, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, MYO7A, GJB2, GJB6, POU3F4, BSND , (...)

View the complete list with 57 more genes
Specificity
2 %
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 %
COL11A2 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL11A2
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 %
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 %
DEAFNESS A.D..

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

EYA4, WFS1, MYO7A, GJB2, GJB6, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL11A2, CRYM, DIAPH1, KCNQ4, SLC17A8, TECTA, TMC1, GSDME, GJB3, MIR96 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
DEAFNESS A.D. and A.R..

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

USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, ACTG1, CIB2, COCH, CLDN14, CCDC50, GIPC3, HGF, MYO3A , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
DEAFNESS A.R. (39 genes).

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

USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, CIB2, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF , (...)

View the complete list with 19 more genes
Specificity
3 %
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 %
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 %
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 %
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 %
Hearing Loss: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, EYA4, HSD17B4, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2 , (...)

View the complete list with 71 more genes
Specificity
2 %
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 %
Hearing Loss NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
Stickler Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
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 %
COL11A2.

By Fulgent Genetics Fulgent Genetics in United States.

COL11A2
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 %
Non-Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, MET, BSND, TBC1D24, ACTG1, ADCY1, BDP1 , (...)

View the complete list with 75 more genes
Specificity
2 %
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 %
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 %
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 %
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 %
Stickler syndrome type III.

By Bioarray in Spain.

COL11A2
Specificity
100 %
Genes
100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %
STICKLER SYNDROME (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
100 %
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

WFS1, GJB2, GJB6, ACTG1, COCH, COL11A2, TECTA, SIX1, GJB3, MYH9
Specificity
10 %
Genes
100 %
STICKLER SYNDROME: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
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 %
Weissenbacher-Zweymuller Syndrome , Sequencing COL11A2 Gene.

By Reference Laboratory Genetics in Spain.

COL11A2
Specificity
100 %
Genes
100 %
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

EYA4, WFS1, MYO7A, GJB2, GJB6, TBC1D24, ACTG1, COCH, CCDC50, MYO6, GRHL2, HOMER2, COL11A2, CRYM, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

USH1C, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, GJB2, GJB6, BSND, CIB2, CLDN14, GIPC3, HGF, MYO3A, MYO6, MYO15A, COL11A2, ILDR1, OTOF , (...)

View the complete list with 19 more genes
Specificity
3 %
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 III , Sequencing COL11A2 Gene.

By Reference Laboratory Genetics in Spain.

COL11A2
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

Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive; Osmedb Is also known as osmed, chondrodystrophy with sensorineural deafness, nance-insley syndrome, nance-sweeney chondrodysplasia, weissenbacher-zweymuller syndrome, formerly;wzs, formerly.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VON WILLEBRAND DISEASE, TYPE 1; VWD1 EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1 ERYTHROMELALGIA PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP

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