1. Genes and Genomic Entities
  2. COMP

COMP

cartilage oligomeric matrix protein
OMIM: 600310, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green COMP in Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review 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
Green COMP in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Eligibility statement prior genetic testing
    • Expert
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Epiphyseal dysplasia, multiple, 1, OMIM:132400
    • Pseudoachondroplasia, OMIM:177170
    Tags
    • nucleotide-repeat-expansion
    Green COMP in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.169
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Epiphyseal dysplasia, multiple, 1, OMIM:132400
    • Pseudoachondroplasia, OMIM:177170
    No list COMP in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Red COMP in DDG2P


    Version 6.438
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400
    Red COMP in Intellectual disability


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Pseudoachondroplasia, 177170
    • Epiphyseal dysplasia, multiple 1, 132400