Vascular skin disorders
Gene: CPO
CPO (carboxypeptidase O)
EnsemblGeneIds (GRCh38): ENSG00000144410
EnsemblGeneIds (GRCh37): ENSG00000144410
OMIM: 609563, Gene2Phenotype
CPO is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000144410
EnsemblGeneIds (GRCh37): ENSG00000144410
OMIM: 609563, Gene2Phenotype
CPO is in 1 panel
1 review
Catherine Snow (Genomics England)
Comment on list classification: Rating as Red as advised by Tom Cullup as "porphyria testing covered elsewhere in test directory."Created: 11 Dec 2019, 8:09 p.m. | Last Modified: 11 Dec 2019, 8:09 p.m.
Panel Version: 0.34
Comment on list classification: Discussion with clinical team as no evidence for gene disease relationship, CPO should be classified as Red.Created: 2 Dec 2019, 11:43 a.m. | Last Modified: 2 Dec 2019, 11:43 a.m.
Panel Version: 0.14
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:CPO; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.13
Details
- Sources
-
- Expert Review Red
- OMIM
- 609563
- Clinvar variants
- Variants in CPO
- Penetrance
- None
- Panels with this gene
History Filter Activity
11 Dec 2019, Gel status: 1
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: cpo has been classified as Red List (Low Evidence).
2 Dec 2019, Gel status: 1
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: cpo has been classified as Red List (Low Evidence).
2 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: CPO was added gene: CPO was added to Vascular skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: CPO was set to