Genomics England
GMS Panels
Panels
Genes and Entities

COMP

cartilage oligomeric matrix protein
OMIM: 600310
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400, PSEUDOACHONDROPLASIA, 177170
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epiphyseal dysplasia, multiple, 1 132400, Pseudoachondroplasia 177170