Skeletal dysplasia
Gene: COMPEnsemblGeneIds (GRCh38): ENSG00000105664
EnsemblGeneIds (GRCh37): ENSG00000105664
OMIM: 600310, Gene2Phenotype
COMP is in 6 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Epiphyseal dysplasia, multiple, 1, OMIM:132400
- Pseudoachondroplasia, OMIM:177170
- Tags
- OMIM
- 600310
- Clinvar variants
- Variants in COMP
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COMP were changed from Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170 to Epiphyseal dysplasia, multiple, 1, OMIM:132400; Pseudoachondroplasia, OMIM:177170
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170 for gene: COMP
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COMP. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for COMP were set to Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)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
Added New Source
Sarah Leigh (Genomics England Curator)COMP was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)COMP was created by sleigh