Miscellaneous Metabolic Disorders
Gene: HGDEnsemblGeneIds (GRCh38): ENSG00000113924
EnsemblGeneIds (GRCh37): ENSG00000113924
OMIM: 607474, Gene2Phenotype
HGD is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM entry). Alkaptonuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of amino acid metabolism.
Sources: NHS GMSCreated: 5 Feb 2021, 1:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkaptonuria MIM#203500; Disorders of phenylalanine or tyrosine metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Alkaptonuria MIM#203500
- Disorders of phenylalanine or tyrosine metabolism
- OMIM
- 607474
- Clinvar variants
- Variants in HGD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hgd has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hgd has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HGD was added gene: HGD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGD were set to 8782815; 27604308 Phenotypes for gene: HGD were set to Alkaptonuria MIM#203500; Disorders of phenylalanine or tyrosine metabolism Review for gene: HGD was set to GREEN gene: HGD was marked as current diagnostic