DPYD

dihydropyrimidine dehydrogenase
OMIM: 612779
PanelMode of inheritanceDetails
4 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
5-fluorouracil toxicity 274270, Dihydropyrimidine dehydrogenase deficiency 274270
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidine dehydrogenase deficiency 274270, Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidine dehydrogenase deficiency, 5-fluorouracil toxicity 274270