Description
Multiple Epiphyseal Dysplasia eligibility statement:

Multiple Epiphyseal Dysplasia inclusion criteria (29703)
- Radiological evidence of MED, as determined by expert skeletal dysplasia radiologist
- Clinical manifestations of MED within this context, including mild short stature, genu valgum/varum, joint hypermobility +/- brachydactyly.

Multiple Epiphyseal Dysplasia exclusion criteria (29703)
- Genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray) showing a chromosome imbalance indicating an alternative aetiology
- MED as a feature of another skeletal dysplasia condition e.g. spondyloepiphyseal dysplasia

Prior genetic testing guidance (29703)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Multiple Epiphyseal Dysplasia prior genetic testing genes (29703)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray)
  - COMP (if appropriate)

Closing statement (29703)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Michael Briggs (Newcastle University)

    Group: GeCIP domain
    Workplace: Research lab

  • Christine Burren (University Hospitals Bristol NHS Foundation Trust)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Sarah Smithson (University Hospitals Bristol NHS Foundation Trust )

    Group: GeCIP domain
    Workplace: NHS clinical service

11 Entities

11 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
11 Entitiess
Green Green List (high evidence)
COL9A2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Dominant
  • Epiphyseal dysplasia, multiple, 2, 600204
  • {Intervertebral disc disease, susceptibility to}, 603932
  • Stickler syndrome, type V, 614284
Tags
Green Green List (high evidence)
COL9A3
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Dominant
  • Epiphyseal dysplasia, multiple, with myopathy
Tags
Green Green List (high evidence)
COMP
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • multiple epiphyseal dysplasia, pseudoachondroplasia
  • Multiple Epiphyseal Dysplasia, Dominant
  • Epiphyseal dysplasia, multiple, 1
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
MATN3
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Dominant
  • Epiphyseal dysplasia, multiple, 5, 607078
Tags
Green Green List (high evidence)
SLC26A2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Recessive
  • Epiphyseal dysplasia, multiple, 4
Tags
Red Red List (low evidence)
CHST3
4 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095
  • Spondyloepiphyseal Dysplasia
Tags
Red Red List (low evidence)
COL11A2
4 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Stickler syndrome, type III, 184840
  • Otospondylomegaepiphyseal dysplasia, 215150
  • Weissenbacher-Zweymuller syndrome, 277610
  • Deafness, autosomal dominant 13, 601868
  • Deafness, autosomal recessive 53, 609706
  • Fibrochondrogenesis 2, 614524
  • Otospondylomegaepiphyseal Dysplasia
Tags
Red Red List (low evidence)
COL2A1
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Multiple epiphyseal dysplasiais
  • Stickler syndrome, type I, 108300
  • Kniest dysplasia, 156550
  • Achondrogenesis, type II or hypochondrogenesis, 200610
  • SED congenita, 183900
  • SMED Strudwick type, 184250
  • Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
  • Spondyloperipheral dysplasia, 271700
  • SED, Namaqualand type
  • Osteoarthritis with mild chondrodysplasia, 604864
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia
  • Platyspondylic skeletal dysplasia, Torrance type, 151210
  • Otospondylomegaepiphyseal dysplasia, 215150
  • Avascular necrosis of the femoral head, 608805
  • Legg-Calve-Perthes disease, 150600
  • Stickler sydrome, type I, nonsyndromic ocular, 609508
  • Czech dysplasia, 609162
Tags
Red Red List (low evidence)
COL9A1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • multiple epiphyseal dysplasia
  • Multiple Epiphyseal Dysplasia, Dominant
  • Epiphyseal dysplasia, multiple, 6, 614135
  • Stickler syndrome, type IV, 614134
Tags
Red Red List (low evidence)
EIF2AK3
4 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus
  • Wolcott-Rallison syndrome
Tags
Red Red List (low evidence)
TRAPPC2
3 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spondyloepiphyseal Dysplasia
  • Spondyloepiphyseal dysplasia tarda
Tags

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