Miscellaneous Metabolic Disorders

Gene: HGD

Green List (high evidence)

HGD (homogentisate 1,2-dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000113924
EnsemblGeneIds (GRCh37): ENSG00000113924
OMIM: 607474, Gene2Phenotype
HGD is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 GMS
Created: 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

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hgd has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hgd has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 1

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