Genomics England
GMS Panels
Panels
Genes and Entities

UPB1

beta-ureidopropionase 1
OMIM: 606673
PanelMode of inheritanceDetails
1 panel
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
Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism), Beta-ureidopropionase deficiency 613161