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:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
5-fluorouracil toxicity 274270, Dihydropyrimidine dehydrogenase deficiency 274270
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidine dehydrogenase deficiency 274270, Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidine dehydrogenase deficiency, 5-fluorouracil toxicity 274270