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  3. HOGA1
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Renal Tubulopathies and related disorders

Gene: HOGA1

Green List (high evidence)
HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1)
EnsemblGeneIds (GRCh38): ENSG00000241935
EnsemblGeneIds (GRCh37): ENSG00000241935
OMIM: 613597, Gene2Phenotype
HOGA1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well-established association with primary hyperoxaluria type III. c.700+5G>T is a recurrent pathogenic variant in European populations (possibly founder) and has high frequency in gnomad (0.2-0.3%).
Created: 29 Jul 2021, 12:05 a.m. | Last Modified: 29 Jul 2021, 12:05 a.m.
Panel Version: 0.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type III MIM#613616

Publications

Created: 29 Jul 2021, 12:05 a.m.
Last Modified: 29 Jul 2021, 12:05 a.m.
Panel version: Imported from Metabolic renal disease panel version 0.16

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established association with primary hyperoxaluria type III. c.700+5G>T is a recurrent pathogenic variant in European populations (possibly founder) and has high frequency in gnomad (0.2-0.3%).
Created: 28 Jul 2021, 10:47 a.m. | Last Modified: 28 Jul 2021, 10:47 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type III MIM#613616

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Jul 2021, 10:47 a.m.
Last Modified: 28 Jul 2021, 10:47 a.m.
Panel version: Imported from Hyperoxaluria panel version 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Phenotypes
  • Hyperoxaluria, primary, type III MIM#613616
OMIM
613597
Clinvar variants
Variants in HOGA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HOGA1 was added gene: HOGA1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOGA1 were set to 21896830; 20797690; 22391140 Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III MIM#613616