Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: COMP

Green List (high evidence)

COMP (cartilage oligomeric matrix protein)
EnsemblGeneIds (GRCh38): ENSG00000105664
EnsemblGeneIds (GRCh37): ENSG00000105664
OMIM: 600310, Gene2Phenotype
COMP is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

As of November 26th 2019:
DDG2P rating confirmed for PSEUDOACHONDROPLASIA (monoallelic, dominant negative).
DDG2P rating possible for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 (monoallelic, dominant negative).
Added 'watchlist' tag to highlight different G2P ratings for different disorders.
Created: 27 Nov 2019, 10:20 p.m. | Last Modified: 27 Nov 2019, 10:20 p.m.
Panel Version: 1.159
Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: dominant negative
Created: 19 Nov 2018, 11:29 a.m. | Last Modified: 27 Nov 2019, 10:19 p.m.
Panel Version: 1.159

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400
  • PSEUDOACHONDROPLASIA, 177170
Tags
watchlist
OMIM
600310
Clinvar variants
Variants in COMP
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; PSEUDOACHONDROPLASIA, 177170

27 Nov 2019, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: COMP.

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400 for gene: COMP Publications for gene COMP were changed from to 9463320; 7670472; 9887340; 12483304; 9021009

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: COMP was added gene: COMP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COMP were set to ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 Mode of pathogenicity for gene: COMP was set to Other - please provide details in the comments