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DDG2P

Gene: HPD

Amber List (moderate evidence)

HPD (4-hydroxyphenylpyruvate dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000158104
EnsemblGeneIds (GRCh37): ENSG00000158104
OMIM: 609695, Gene2Phenotype
HPD is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable (for all listed disorders). Multiple MOPs in DD-G2P download: dominant negative, loss of function. Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • TYROSINEMIA TYPE 3 276710
  • HAWKINSINURIA 140350
OMIM
609695
Clinvar variants
Variants in HPD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes TYROSINEMIA TYPE 3 276710 for gene: HPD Publications for gene HPD were changed from to 10942115

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: HPD was added gene: HPD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to HAWKINSINURIA 140350