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Mendeliome

Gene: CYP2C19

Red List (low evidence)

CYP2C19 (cytochrome P450 family 2 subfamily C member 19)
EnsemblGeneIds (GRCh38): ENSG00000165841
EnsemblGeneIds (GRCh37): ENSG00000165841
OMIM: 124020, Gene2Phenotype
CYP2C19 is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

Pharmacogenomics gene

Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)

(PMID:27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."
Created: 5 May 2022, 10:35 a.m. | Last Modified: 8 May 2022, 10:14 p.m.
Panel Version: 0.13919

Mode of inheritance
Other

Phenotypes
Voriconazole

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Voriconazole
OMIM
124020
Clinvar variants
Variants in CYP2C19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 May 2022, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cyp2c19 has been classified as Red List (Low Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cyp2c19 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CYP2C19 were changed from to Voriconazole

5 May 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CYP2C19 were set to

5 May 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CYP2C19 was changed from Unknown to Other

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP2C19 was added gene: CYP2C19 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP2C19 was set to Unknown