PanelApp
  1. Genes and Genomic Entities
  2. HPD

HPD

4-hydroxyphenylpyruvate dioxygenase
OMIM: 609695, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green HPD in Mendeliome


Version 1.3512

2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hawkinsinuria (MIM#140350), AD
  • Tyrosinemia type III (MIM#276710), AR

Green HPD in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • tyrosinemia type III MONDO:0010162

Green HPD in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.110

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tyrosinemia, type III, 276710 (3)

Red HPD in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Tyrosinemia, type III

Green HPD in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.57

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hawkinsinuria MIM#140350
    • Tyrosinemia, type III MIM#276710
    • Disorders of phenylalanine or tyrosine metabolism

    Red HPD in Fetal anomalies


    Version 1.465

    		2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Hawkinsinuria (MIM#140350), AD
    • Tyrosinemia type III (MIM#276710), AR

    Green HPD in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Tyrosinemia, type III, MIM#276710

    Green HPD in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • tyrosinemia type III MONDO:0010162
    • hawkinsinuria MONDO:0007700

    Red HPD in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    • BeginNGS
    Phenotypes
    • Tyrosinemia, type III
    • Hawkinsinuria , MIM#140350
    • Tyrosinaemia, type III 276710

    Green HPD in Prepair 500+


    Level 2: Screening
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Tyrosinaemia, type III, MIM#276710