1. Genes and Genomic Entities
  2. TPMT

TPMT

thiopurine S-methyltransferase
OMIM: 187680, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red TPMT in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism)
  • {Thiopurines, poor metabolism of, 1} 610460
Tags
  • pharmacogenetics
Red TPMT in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism)
    • {Thiopurines, poor metabolism of, 1} 610460