Multiple Epiphyseal Dysplasia
Gene: COMP
Comment on list classification: Reviewers agree there is a high level of evidence for this gene. Confirmed DD gene.Created: 5 Feb 2016, 3:48 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, not on the imprinted gene list.Created: 5 Feb 2016, 3:47 p.m.
Mutations in COMP cause ~75% of radiographically confirmed MED; see PMID: 17133256. Mode of pathogenicity is dominant-negative (neomorphic).Created: 9 Oct 2015, 9:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
multiple epiphyseal dysplasia, pseudoachondroplasia
Publications
Mode of pathogenicity
Other
This gene has been classified as Green List (High Evidence).
Phenotypes for COMP were set to multiple epiphyseal dysplasia, pseudoachondroplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, 1
Phenotypes for COMP were set to multiple epiphyseal dysplasia, pseudoachondroplasia; Multiple Epiphyseal Dysplasia, Dominant
Publications for COMP were set to PMID: 24595329; 17133256
Mode of inheritance for COMP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
COMP was added to Multiple Epiphyseal Dysplasiapanel. Sources: Eligibility statement prior genetic testing
COMP was added to Multiple Epiphyseal Dysplasiapanel. Sources: Expert
COMP was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory
COMP was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services