COMP

cartilage oligomeric matrix protein
OMIM: 600310, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green COMP in Mendeliome


Version 2.0

1 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 2.0

1 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 1.0

1 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_MEDPSACH_GAC STR in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

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

Green COMP_MEDPSACH_GAC STR in Repeat Disorders


Version 1.0

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