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  2. Muscular dystrophy and myopathy_Paediatric
  3. COMP
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Muscular dystrophy and myopathy_Paediatric

Gene: COMP

Amber List (moderate evidence)
COMP (cartilage oligomeric matrix protein)
EnsemblGeneIds (GRCh38): ENSG00000105664
EnsemblGeneIds (GRCh37): ENSG00000105664
OMIM: 600310, Gene2Phenotype
COMP is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Not a common feature of MED.
Amber so as not to miss a diagnosis

PMID: 14684695
2 families only 1 with mild myopathy
Fam1: 1 father + 3 sibs, only 1 reported muscle weakness
Fam2: no muscle weakness reported

PMID: 15880723
10 families but only 1 reported mild myopathy

PMID: 20508815
additional 2 unrelated individuals from European Skeletal Dysplasia Network
Sources: Literature
Created: 12 Apr 2024, 5:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epiphyseal dysplasia, multiple, 1 MIM#132400

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Apr 2024, 5:04 a.m.

Panel version: 1.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epiphyseal dysplasia, multiple, 1 MIM#132400
OMIM
600310
Clinvar variants
Variants in COMP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: comp has been classified as Amber List (Moderate Evidence).

12 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: comp has been classified as Amber List (Moderate Evidence).

12 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

gene: COMP was added gene: COMP was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COMP were set to 20508815; 14684695; 15880723 Phenotypes for gene: COMP were set to Epiphyseal dysplasia, multiple, 1 MIM#132400 Review for gene: COMP was set to AMBER gene: COMP was marked as current diagnostic