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Inborn errors of metabolism

Gene: HGD

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 11 variants reported
Created: 19 Jan 2017, 12:59 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Alkaptonuria
OMIM
607474
Clinvar variants
Variants in HGD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HGD. Source London North GLH was added to HGD.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HGD was added gene: HGD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGD were set to 27604308 Phenotypes for gene: HGD were set to Alkaptonuria