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  3. COMP
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Multiple Epiphyseal Dysplasia

Gene: COMP

Green List (high evidence)
COMP (cartilage oligomeric matrix protein)
EnsemblGeneIds (GRCh38): ENSG00000105664
EnsemblGeneIds (GRCh37): ENSG00000105664
OMIM: 600310, Gene2Phenotype
COMP is in 6 panels

4 reviews

Christine Burren (University Hospitals Bristol NHS Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Sarah Smithson (University Hospitals Bristol NHS Foundation Trust )

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Reviewers agree there is a high level of evidence for this gene. Confirmed DD gene.
Created: 5 Feb 2016, 3:48 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, not on the imprinted gene list.
Created: 5 Feb 2016, 3:47 p.m.
Created: 5 Feb 2016, 3:46 p.m.

Panel version: 0.28

Michael Briggs (Newcastle University)

Green List (high evidence)

Mutations in COMP cause ~75% of radiographically confirmed MED; see PMID: 17133256. Mode of pathogenicity is dominant-negative (neomorphic).
Created: 9 Oct 2015, 9:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
multiple epiphyseal dysplasia, pseudoachondroplasia

Publications

Mode of pathogenicity
Other

Created: 9 Oct 2015, 9:48 a.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • multiple epiphyseal dysplasia, pseudoachondroplasia
  • Multiple Epiphyseal Dysplasia, Dominant
  • Epiphyseal dysplasia, multiple, 1
Tags
nucleotide-repeat-expansion
OMIM
600310
Clinvar variants
Variants in COMP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COMP were set to multiple epiphyseal dysplasia, pseudoachondroplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, 1

5 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COMP were set to multiple epiphyseal dysplasia, pseudoachondroplasia; Multiple Epiphyseal Dysplasia, Dominant

5 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COMP were set to PMID: 24595329; 17133256

5 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COMP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COMP was added to Multiple Epiphyseal Dysplasiapanel. Sources: Eligibility statement prior genetic testing

8 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

COMP was added to Multiple Epiphyseal Dysplasiapanel. Sources: Expert

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

COMP was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

COMP was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services