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DDG2P

Gene: COMP

Red List (low evidence)
COMP (cartilage oligomeric matrix protein)
EnsemblGeneIds (GRCh38): ENSG00000105664
EnsemblGeneIds (GRCh37): ENSG00000105664
OMIM: 600310, Gene2Phenotype
COMP is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 7670472;9887340;9021009;12483304;9463320).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

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
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
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400
OMIM
600310
Clinvar variants
Variants in COMP
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400

7 Oct 2023, Gel status: 1

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: COMP.

7 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400

7 Oct 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; PSEUDOACHONDROPLASIA, 177170 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400

4 Oct 2023, Gel status: 1

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to COMP. Mode of pathogenicity for gene COMP was changed from Other - please provide details in the comments to Other Publications for gene: COMP were updated from 9463320; 7670472; 9887340; 12483304; 9021009 to 9021009; 9463320; 12483304; 7670472; 9887340 Rating Changed from Green List (high evidence) to Red List (low evidence)

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