Genomics England
GMS Panels
Panels
Genes and Entities

HPD

4-hydroxyphenylpyruvate dioxygenase
OMIM: 609695
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
TYROSINEMIA TYPE 3 276710, HAWKINSINURIA 140350
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type III, 276710Hawkinsinuria, 140350, HAWKINSINURIA (HAWK)
Green
in Likely inborn error of metabolism
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 6.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hawkinsinuria 140350, Tyrosinemia, type III 276710