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Additional findings_Paediatric

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Alkaptonuria
OMIM
607474
Clinvar variants
Variants in HGD
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, 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 Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGD were set to Alkaptonuria