Epileptic encephalopathyGene: DPYD
Associated with phenotype in OMIM, not in G2P. At least 5 variants reported. Pharmacogentic tag added with comment: Heterozygous individuals can be affected by fluorouracil toxicity.
16 Mar 2017, 2:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270
This gene has been classified as Green List (High Evidence).
DPYD was created by sleigh
DPYD was added to Epileptic encephalopathypanel. Sources: Expert Review