Skeletal dysplasia
Gene: COMP
Multiple epiphyseal dysplasia & psudoachondroplasia gp of SD. Many cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COMP; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:29 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 13 Jul 2016, 8:33 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170 for gene: COMP
Source NHS GMS was added to COMP. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for COMP were set to Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170
COMP was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services COMP was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory COMP was added to Unexplained skeletal dysplasiapanel. Source: Expert COMP was added to Unexplained skeletal dysplasiapanel. Source: Eligibility statement prior genetic testing COMP was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene COMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
COMP was created by sleigh
COMP was added to Unexplained skeletal dysplasiapanel. Sources: