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BabyScreen+ newborn screening

Gene: HGD

Amber List (moderate evidence)

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

2 reviews

John Christodoulou (Murdoch Children's Research Institute)

Red List (low evidence)

characteristic "black" urine is apparent from infancy, and so the disorder could be diagnosed in early childhood. However the progressive disease manifestations do not really become prominent until adulthood.

low does nitisinone greatly reduces homogentisic acid levels and if started early will probably prevent the clinical abnormalities from developing, but strictly speaking clinical problems do not start in the first 5 years, so that is why I have marked this as a red gene....

worth discussion
Created: 11 Dec 2022, 5:06 a.m. | Last Modified: 11 Dec 2022, 5:06 a.m.
Panel Version: 0.1272

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive arthritis; progressive calcific cardiac valve damage; renal stones

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Well established gene-disease association.

Progressive metabolic disorder; however, symptoms generally appear in adulthood.

Treatable: Nitisinone, diet
Created: 7 Dec 2022, 2:44 a.m. | Last Modified: 7 Dec 2022, 2:44 a.m.
Panel Version: 0.1206

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkaptonuria MIM#203500

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • BabySeq Category A gene
Phenotypes
  • Alkaptonuria MIM#203500
Tags
treatable metabolic
OMIM
607474
Clinvar variants
Variants in HGD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hgd has been classified as Amber List (Moderate Evidence).

11 Dec 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HGD were changed from Alkaptonuria to Alkaptonuria MIM#203500

11 Dec 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HGD were set to

11 Dec 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hgd has been classified as Amber List (Moderate Evidence).

7 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: HGD. Tag metabolic tag was added to gene: HGD.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HGD was added gene: HGD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGD were set to Alkaptonuria