Miscellaneous Metabolic Disorders

Gene: HPD

Green List (high evidence)

HPD (4-hydroxyphenylpyruvate dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000158104
EnsemblGeneIds (GRCh37): ENSG00000158104
OMIM: 609695, Gene2Phenotype
HPD is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). 4-hydroxyphenylpyruvate dioxygenase deficiencies are classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Created: 5 Feb 2021, 2 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hawkinsinuria MIM#140350; Tyrosinemia, type III MIM#276710; Disorders of phenylalanine or tyrosine metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
609695
Clinvar variants
Variants in HPD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hpd has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hpd has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HPD was added gene: HPD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HPD were set to 10942115; 11073718; 27604308 Phenotypes for gene: HPD were set to Hawkinsinuria MIM#140350; Tyrosinemia, type III MIM#276710; Disorders of phenylalanine or tyrosine metabolism Review for gene: HPD was set to GREEN gene: HPD was marked as current diagnostic