TPMT

TPMT is one of the key pharmacogenes involved in implementation of pharmacogenomics.

• It is involved in guidelines for thiopurines including mercaptopurine and azathioprine (go to list of all guidelines with TPMT).
• the AMP tier 1 alleles are TPMT*2, TPMT*3A, TPMT*3B, TPMT*3C, see all alleles on the AMP recommended to test list.
• key variant pages are rs1800462 (defining for *2), rs1800460 (defining for *3B), rs1142345 (defining for *3C).
• See the Gene-specific Information Tables for Allele Definitions (for which variants comprise which star alleles), Allele function assignments (normal function, no function, decreased or increased function etc) and Diplotype-Phenotype Table (for how the alleles combine to form metabolizer phenotypes for PM, NM, UM).