Epileptic encephalopathyGene: ITPA
Comment on "pharmacogenetic" tag: Abnormal 6-mercaptopurine metabolism in ITPase-deficient patients may cause thiopurine drug toxicity
Created: 20 Mar 2017, 11:13 a.m.
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 20 Mar 2017, 11:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epileptic encephalopathy, early infantile, 35, 616647
This gene has been classified as Green List (High Evidence).
ITPA was added to Epileptic encephalopathypanel. Sources: Expert Review
ITPA was created by sleigh