Epileptic encephalopathyGene: ITPA
Comment on "pharmacogenetic" tag: Abnormal 6-mercaptopurine metabolism in ITPase-deficient patients may cause thiopurine drug toxicity
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.
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