Genomics England
GMS Panels
Panels
Genes and Entities

HPD

4-hydroxyphenylpyruvate dioxygenase
OMIM: 609695
PanelMode of inheritanceDetails
2 panels
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hawkinsinuria 140350, Tyrosinemia, type III 276710
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type III, 276710Hawkinsinuria, 140350, HAWKINSINURIA (HAWK)