Transplant Co-Morbidity Superpanel
Gene: CYP2C19EnsemblGeneIds (GRCh38): ENSG00000165841
EnsemblGeneIds (GRCh37): ENSG00000165841
OMIM: 124020, Gene2Phenotype
CYP2C19 is in 3 panels
1 review
Claire Fryer-Smith (University of Melbourne)
Genetic polymorphism in the metabolism of the anticonvulsant drug mephenytoin exhibits marked racial heterogeneity. Patients carrying any 2 CYP2C19 loss-of-function alleles (*2, *3, *4, or *5), had a higher event rate than patients with none.
CYP2C19 is a clinically important enzyme (EC 1.14.13.80) that metabolizes a wide variety of drugs, including the anticonvulsant mephenytoin, anti-ulcer drugs such as omeprazole, certain antidepressants, and the antimalarial drug proguanil. Mutation in the CYP2C19 gene causes poor metabolism of these drugs (PMID: 12464799).
It is involved in guidelines for antidepressants, clopidogrel and voriconazole.
https://www.pharmgkb.org/gene/PA124
Sources: Expert listCreated: 24 Aug 2023, 11:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DRUG METABOLISM, POOR, CYP2C19-RELATED, MEPHENYTOIN, POOR METABOLISM OF, INCLUDED OMEPRAZOLE, POOR METABOLISM OF, INCLUDED PROGUANIL, POOR METABOLISM OF, INCLUDED CLOPIDOGREL, POOR METABOLISM OF, INCLUDED MIM#609535
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- DRUG METABOLISM, POOR, CYP2C19-RELATED, MEPHENYTOIN, POOR METABOLISM OF, INCLUDED OMEPRAZOLE, POOR METABOLISM OF, INCLUDED PROGUANIL, POOR METABOLISM OF, INCLUDED CLOPIDOGREL, POOR METABOLISM OF, INCLUDED MIM#609535
- OMIM
- 124020
- Clinvar variants
- Variants in CYP2C19
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cyp2c19 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cyp2c19 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Claire Fryer-Smith (University of Melbourne)gene: CYP2C19 was added gene: CYP2C19 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list Mode of inheritance for gene: CYP2C19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2C19 were set to 12464799 Phenotypes for gene: CYP2C19 were set to DRUG METABOLISM, POOR, CYP2C19-RELATED, MEPHENYTOIN, POOR METABOLISM OF, INCLUDED OMEPRAZOLE, POOR METABOLISM OF, INCLUDED PROGUANIL, POOR METABOLISM OF, INCLUDED CLOPIDOGREL, POOR METABOLISM OF, INCLUDED MIM#609535 Review for gene: CYP2C19 was set to GREEN