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  3. HPD
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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

Created: 5 Feb 2021, 2 a.m.

Panel version: 0.186

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