COMP

cartilage oligomeric matrix protein
OMIM: 600310, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green COMP in Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.6

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.145
Latest signed off version: v2.2 (13 Feb 2020)

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 132400
    • Pseudoachondroplasia 177170
    Tags
    • nucleotide-repeat-expansion

    Red COMP in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ARE THE CAUSE OF PSEUDOACHONDROPLASIA
    • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

    No list COMP in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

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

    Green COMP in DDG2P


    Version 2.50
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400
    • PSEUDOACHONDROPLASIA, 177170
    Tags
    • watchlist

    Red COMP in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green COMP in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pseudoachondroplasia, 177170
    • Epiphyseal dysplasia, multiple, 1, 132400