PanelApp (stage)
  1. Genes and Genomic Entities
  2. COMP

COMP

cartilage oligomeric matrix protein
OMIM: 600310, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green COMP in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epiphyseal dysplasia, multiple, 1 MIM#132400
  • Pseudoachondroplasia MIM#177170
Tags
  • STR

Amber COMP in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Epiphyseal dysplasia, multiple, 1 MIM#132400

    Green COMP in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert
    • Eligibility statement prior genetic testing
    • Expert Review Green
    • NHS GMS
    • Emory Genetics Laboratory
    Phenotypes
    • Epiphyseal dysplasia, multiple, 1 132400
    • Pseudoachondroplasia 177170

    Green COMP in Multiple epiphyseal dysplasia and pseudoachondroplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.11

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pseudoachondroplasia 177170
    • Epiphyseal dysplasia, multiple, 1 132400

    Green MEDPSACH STR in Repeat Disorders


    Version 0.167

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epiphyseal dysplasia, multiple, 1 MIM#132400
    • Pseudoachondroplasia MIM#177170
    Tags
    • paediatric-onset