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haplotype

A collection of 13 issues

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

New AMP testing recommendations for alleles in CYP3A4 and CYP3A5

The Association for Molecular Pathology, 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, and Pharmacogenomics Knowledgebase have jointly published recommendations on what constitutes the minimum panel of variant alleles (tier 1) and an

PharmVar GeneFocus paper for SLCO1B1 is published

The PharmVar GeneFocus: SLCO1B1 paper has just been published by Clinical Pharmacology & Therapeutics. This review provides a general overview of SLCO1B1 as well as a deeper dive into its nomenclature. This GeneFocus covers genetic variability, functional impact, clinical relevance, gene nomenclature before and after PharmVar updates, methods for allele

CYP2A6 now released on PharmVar

PharmVar and PharmGKB are excited to share that CYP2A6 has been transitioned into the PharmVar database. CYP2A6 metabolizes several substates including coumarin, nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Owing to its highly polymorphic nature, CYP2A6 activity varies considerably between individuals. Due to the complex nature of the CYP2A gene

What does *1 really mean? And why does that matter?

A Haiku about PGx for National Poetry Month. Diagnosed star one, Yet severe toxicity. What did the lab test? What does *1 really mean? And why does that matter? The star alleles of the drug metabolizing enzyme genes are an unusual way of defining variation and are perhaps one of

TPMT allele nomenclature update published

Nomenclature for alleles of the Thiopurine Methyltransferase (TPMT) gene has been updated by the TPMT Nomenclature Committee and has been published online in Pharmacogenetics & Genomics. The committee have addressed issues such as previously existing duplication in star allele names, and has provided dbSNP rsIDs when available. View the updated

SLCO1B1 Haplotypes updated on PharmGKB

The PharmGKB Haplotype table for SLCO1B1 has just been updated and now contains information for alleles *1-*36. The literature includes two different alleles which were both named *16 at the time of publication, and we are using the definition for the first *16 allele to be published. References are

PGx Look Up Tables

The Translational Pharmacogenetics Project (TPP) is a PGRN-led initiative with the goal to operationalize the work of CPIC by translating widely accepted actionable pharmacogenetics discoveries into real-world clinical practice. TPP creates "look up" tables by gene which contain phenotype and clinical decision support system information based on haplotypes

New Haplotype features on PharmGKB

New features on the Haplotype tab (example: CYP2A6): * Details of the resources used to determine our curated haplotype maps and any important notes regarding the haplotypes are added by our curators. * Previously we only displayed dbSNP rsIDs within haplotypes - now you can view other genetic variants that currently have