Monday, November 19, 2018

CYP2D6*14A and *14B are updated to *114 and *14 based on the current PharmVar release

PharmGKB and CPIC revised the CYP2D6 allele names *14A and *14B to be in concordance with the latest major PharmVar release

CYP2D6*14A is revised to *114 and *14B to *14 in the variant and clinical annotations. The allele choices in the annotation of the CPIC guidelines for CYP2D6 have been updated to reflect the change.

The Gene-specific Information Tables for CYP2D6 (CYP2D6 allele definition table, CYP2D6 allele functionality table, and CYP2D6 diplotype-phenotype table) have been updated to included the new name assignment.

Monday, November 5, 2018

Major PharmVar update released

PharmVar has announced the release of a major update to Notable new features include a revised haplotype naming system, the introduction of unique haplotype IDs, a functional impact display next to causative SNVs in brackets and a revised allele (CYP2D6*14A is now *114). The new gene page design has customizable display options and allows the user to see variation info across reference sequences and genome builds and rsIDs without leaving the page.

The update also features nomenclature for the first non-CYP gene, NUDT15. Papers describing the new features, and how NUDT15 nomenclature was developed are close to being published in Clinical Pharmacology and Therapeutics. A presentation with an overview of PharmVar and highlights of the new features can be found under the About tab on the PharmVar website.

PharmGKB will soon be updating our Gene Information Tables for CYP2D6 to reflect the revised allele status of CYP2D6*114. Our NUDT15 Gene Information Tables are already in sync with PharmVar.