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Mackenzie's Mission_Reproductive Carrier Screening

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

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Several independent reports.

Hawkinsinuria - heterozygotes which cause partial loss of enzyme activity
Tyrosinemia type III - homozygotes which cause complete loss of enzyme activity
Created: 24 Jul 2020, 12:07 a.m. | Last Modified: 24 Jul 2020, 12:07 a.m.
Panel Version: 0.7

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Hawkinsinuria (MIM#140350), AD; Tyrosinemia type III (MIM#276710), AR

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tyrosinemia, type III, 276710 (3)
OMIM
609695
Clinvar variants
Variants in HPD
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPD was added gene: HPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3)