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Prepair 1000+

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

Cassandra Muller (Victorian Clinical Genetics Services)

I don't know

Well established gene-disease association. Unsure on severity as it is variable, and evidence does not seem not clear if cognitive features are caused by the loss of enzyme activity.
Created: 4 Dec 2024, 5:26 a.m. | Last Modified: 4 Dec 2024, 5:26 a.m.
Panel Version: 1.633

Phenotypes
Tyrosinemia, type III, 276710 (3)

Publications

Details

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

History Filter Activity

12 Dec 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: HPD.

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Tyrosinemia, type III, 276710 (3) for gene: HPD

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. 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)