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Fetal anomalies

Gene: COMP

Red List (low 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)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COMP gene rating from Green to Red. Additional notes from clinical review: Onset is later.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for ARE THE CAUSE OF PSEUDOACHONDROPLASIA and Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as Dominant negative for both disorders.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • ARE THE CAUSE OF PSEUDOACHONDROPLASIA
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1
OMIM
600310
Clinvar variants
Variants in COMP
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to COMP. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 for gene: COMP

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: COMP was added gene: COMP was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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