Genomics England
GMS Panels
Panels
Genes and Entities

DPYD

dihydropyrimidine dehydrogenase
OMIM: 612779
PanelMode of inheritanceDetails
4 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
5-fluorouracil toxicity 274270, Dihydropyrimidine dehydrogenase deficiency 274270
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidine dehydrogenase deficiency 274270, Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidine dehydrogenase deficiency, 5-fluorouracil toxicity 274270