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Prepair 1000+

Gene: HGD

Red List (low evidence)

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Well established gene disease association. Symptoms occur in adulthood.

Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. (Gene Reviews)
Sources: Literature
Created: 25 Jul 2022, 2:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkaptonuria (MIM#203500)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Alkaptonuria (MIM#203500)
OMIM
607474
Clinvar variants
Variants in HGD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hgd has been classified as Red List (Low Evidence).

26 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hgd has been classified as Red List (Low Evidence).

25 Jul 2022, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: HGD was added gene: HGD was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGD were set to 25804398 Phenotypes for gene: HGD were set to Alkaptonuria (MIM#203500) Review for gene: HGD was set to RED