Pharmacogenomics_Paediatric
Gene: CYP2C9EnsemblGeneIds (GRCh38): ENSG00000138109
EnsemblGeneIds (GRCh37): ENSG00000138109
OMIM: 601130, Gene2Phenotype
CYP2C9 is in 2 panels
2 reviews
David Metz (Royal Children's Hospital)
25099164
If CYP2C9 IM, consider 25% reduction starting dose (moderate recommendation).
If CYP2C9 PM, consider 50% reduction starting dose phenytoin (strong recommendation).
Created: 21 Sep 2020, 1:01 a.m. | Last Modified: 21 Sep 2020, 1:18 a.m.
Panel Version: 0.50
(32189324)
Note poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.
"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of therapy will depend on individual patient treatment goals and risks for toxicity."
Probably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.Created: 14 Aug 2020, 1:28 a.m. | Last Modified: 14 Aug 2020, 1:28 a.m.
Panel Version: 0.33
In vivo, metabolic activity over 1y age is same as adults (18406467).Created: 14 Aug 2020, 12:33 a.m. | Last Modified: 14 Aug 2020, 12:33 a.m.
Panel Version: 0.33
Phenotypes
Phenytoin metabolism - increased risk toxicities
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Activity levels of CYP2C9 are at 1-2% of adult values in the fetus during the first trimester. These levels gradually increase to 30% of adult values at term. There is a high variability in these levels during the first 5 months of life, with levels eventually approaching adult values somewhere between 5 months and 2 years of age.Created: 1 Aug 2020, 1:52 a.m. | Last Modified: 1 Aug 2020, 1:52 a.m.
Panel Version: 0.19
Sources: Expert listCreated: 31 Jul 2020, 10:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Warfarin sensitivity, MIM# 122700; Phenytoin
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Warfarin sensitivity, MIM# 122700
- Phenytoin
- OMIM
- 601130
- Clinvar variants
- Variants in CYP2C9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CYP2C9 were set to 25099164
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CYP2C9 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cyp2c9 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cyp2c9 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CYP2C9 was added gene: CYP2C9 was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: CYP2C9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CYP2C9 were set to Warfarin sensitivity, MIM# 122700; Phenytoin Review for gene: CYP2C9 was set to GREEN