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.
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
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
COL9A2 |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Phenotypes
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Green List (high evidence) |
COL9A3 |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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Green List (high evidence) |
COMP |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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Green List (high evidence) |
MATN3 |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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Green List (high evidence) |
SLC26A2 |
3 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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Red List (low evidence) |
CHST3 |
4 reviews3 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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Red List (low evidence) |
COL11A2 |
4 reviews3 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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Red List (low evidence) |
COL2A1 |
4 reviews3 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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Red List (low evidence) |
COL9A1 |
4 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
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Red List (low evidence) |
EIF2AK3 |
4 reviews3 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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Red List (low evidence) |
TRAPPC2 |
3 reviews2 red |
X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
Tags |
08.02.2016: Approved to Version 1.0 after assessing Expert review and other evidence sources.