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 3.79
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 5.343
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type III, 276710Hawkinsinuria, 140350, HAWKINSINURIA (HAWK)
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 4.78
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hawkinsinuria 140350, Tyrosinemia, type III 276710