TEST Undiagnosed metabolic disorders
Gene: HPD

HPD (4-hydroxyphenylpyruvate dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000158104
EnsemblGeneIds (GRCh37): ENSG00000158104
OMIM: 609695, Gene2Phenotype
HPD is in 6 panels

0 reviews

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

OMIM

609695

Clinvar variants

Variants in HPD

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: HPD was added gene: HPD was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HPD were set to 26226126; 17560158; 10942115; 30984715; 11073718; 27604308

TEST Undiagnosed metabolic disorders Gene: HPD

0 reviews

Details

History Filter Activity

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

TEST Undiagnosed metabolic disorders
Gene: HPD