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BabyScreen+ newborn screening

Gene: HPD

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Treatment is supportive.
Created: 5 Mar 2023, 5:44 a.m. | Last Modified: 5 Mar 2023, 5:44 a.m.
Panel Version: 0.1890

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia, type III MIM#276710

Created: 5 Mar 2023, 5:44 a.m.
Last Modified: 5 Mar 2023, 5:44 a.m.
Panel version: 0.1890

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Metabolic condition
Dev delay, ID, variable severity
Treatment not established but low protein diet?
Created: 27 Feb 2023, 1:35 a.m. | Last Modified: 27 Feb 2023, 1:35 a.m.
Panel Version: 0.1872

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia, type III MIM#276710

Publications

Created: 27 Feb 2023, 1:35 a.m.
Last Modified: 27 Feb 2023, 1:35 a.m.
Panel version: 0.1872

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
  • BeginNGS
Phenotypes
  • Tyrosinemia, type III
  • Hawkinsinuria , MIM#140350
  • Tyrosinaemia, type III 276710
OMIM
609695
Clinvar variants
Variants in HPD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hpd has been classified as Red List (Low Evidence).

5 Mar 2023, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HPD were set to

18 Sep 2022, Gel status: 1

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Expert Review Red was added to HPD. Source BabySeq Category C gene was added to HPD. Mode of inheritance for gene HPD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Tyrosinemia, type III for gene: HPD Rating Changed from Green List (high evidence) to Red List (low evidence)

18 Sep 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 gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to Hawkinsinuria , MIM#140350; Tyrosinaemia, type III 276710