Aminoacidopathy
Gene: HPDEnsemblGeneIds (GRCh38): ENSG00000158104
EnsemblGeneIds (GRCh37): ENSG00000158104
OMIM: 609695, Gene2Phenotype
HPD is in 10 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Tyrosinemia type III - AR and Hawkinsinuria - AD
ClinGen classified limited evidence for the AD gene-disease association on 17/11/2023 and definitive for AR gene-disease association on 29/06/2020.
Established gene-disease association. Reported individuals reported with inborn errors of amino acid metabolism.
Sources: ClinGenCreated: 7 Jun 2024, 5:57 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
tyrosinemia type III MONDO:0010162; hawkinsinuria MONDO:0007700
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- tyrosinemia type III MONDO:0010162
- hawkinsinuria MONDO:0007700
- OMIM
- 609695
- Clinvar variants
- Variants in HPD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hpd has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hpd has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: HPD was added gene: HPD was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HPD were set to 10942115, 11073718, 28649543, 11073718, 31342835 Phenotypes for gene: HPD were set to tyrosinemia type III MONDO:0010162; hawkinsinuria MONDO:0007700 Review for gene: HPD was set to GREEN