Save the Date for ClinPGx/CPIC/PGRN 2025
The ClinPGx/CPIC 2025 Meeting will be held in collaboration with the PGRN in Missoula, Montana, September 8-11, 2025.
Topic
PharmVar
A collection of 38 issues
PharmVar Gene Focus on CYP4F2
PharmVar expert panel has reviewed and published a Gene Focus paper on CYP4F2 [PMID: 39135485].
The most well known drug pathway involving CYP4F2 is warfarin, where it is involved in the cycling of vitamin K.
The CPIC guideline for warfarin and CYP4F2 gives details of the pharmacogenomic algorithms for warfarin
New PharmVar GeneFocus published for CYP2A6
PharmVar expert panel for CYP2A6 has published a review that presents allele nomenclature and includes a discussion on additional genes in the locus: CYP2A13 and CYP2A7 [PMID:39051767].
CYP2A6 metabolizes a variety of drugs including nicotine, efavirenz, tegafur, letrozole, and metronidazole for which PharmGKB has interactive pharmacokinetics pathways available. (There
New must-test alleles for DPYD
The recently published article DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics
NAT2 now released on PharmVar
PharmVar and PharmGKB are excited to share that NAT2 has been transitioned into the PharmVar database and updated accordingly on PharmGKB. NAT2 metabolizes several pharmaceutical substrates, including isoniazid, hydralazine, amifampridine, procainamide and sulfonamides, as well as some highly carcinogenic arylamines. NAT2 enzymatic activity varies considerably between individuals, due to polymorphisms
ClinPGx 2024 Registration and Abstract Submission Open
REGISTRATION OPEN
In collaboration with CPIC, PharmGKB, PharmCAT and PharmVar, the Penn Institute for Biomedical Informatics will be hosting the ClinPGx 2024: Knowledge, Implementation, Education meeting on June 20th and 21st, 2024 in Philadelphia, PA. This meeting will provide educational content to cover all aspects of PGx implementation, including knowledgebases,
Announcement of PharmVar Content Changes
PharmVar continues to evolve and strive to offer high-quality content to our global users. To allow us to bring new clinically relevant content to PharmVar we needed to make some difficult decisions and ‘retire’ several CYP genes. This decision is based on a newly developed points-based rating system (0-100 points)
CYP2D6 allele function update
The CYP2D6 allele functionality file has been re-evaluated and updated by experts involved in CYP2D6-related CPIC guidelines. CYP2D6 functions are now assigned up to star allele 163.
Part of the re-evaluation focused on alleles that include 100C>T (P34S) (*10 key SNP). Furthermore, the activity value of several decreased
PharmVar updates for CYP3A4 star allele definitions
PharmVar announces several updates for CYP3A4 star allele definitions.
Retirement of the CYP3A4*1G allele: this allele was defined by a common variant in intron 10 (c.1026+12G>A) which was also found on many other haplotypes (or star alleles). PharmVar transiently designated the CYP3A4*1G allele as
CYP4F2 is now fully curated by PharmVar
CYP4F2 contributes to the synthesis of cholesterol, steroids and other lipids. It has been shown to regulate the bioavailability of vitamin E and vitamin K, a co-factor that is critical to blood clotting. Variations in this important pharmacogene can affect vitamin K levels and thus, the dosing of vitamin K