Genomics England
GMS Panels
Panels
Genes and Entities

DPYS

dihydropyrimidinase
OMIM: 613326
PanelMode of inheritanceDetails
2 panels
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
Dihydropyrimidinuria, OMIM:222748
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
Dihydropyrimidinuria, OMIM:222748, Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)