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  2. Aminoacidopathy
  3. HGD
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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:005055

Well established gene-disease association with reported individuals showing evidence of abnormal biochemical function.
Sources: ClinGen
Created: 7 Jun 2024, 5:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
alkaptonuria MONDO:0008753

Publications

Created: 7 Jun 2024, 5:11 a.m.

Panel version: 1.59

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • alkaptonuria MONDO:0008753
OMIM
607474
Clinvar variants
Variants in HGD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Jun 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: HGD was added gene: HGD was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGD were set to 8782815; 9529363; 9154114; 9674916 Phenotypes for gene: HGD were set to alkaptonuria MONDO:0008753 Review for gene: HGD was set to GREEN