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Prepair 1000+

Gene: HOGA1

Red List (low evidence)

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

3 reviews

Karina Sandoval (Victorian Clinical Genetics Services)

Red List (low 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%).

Onset in infancy, progressive multi-system disorder.

Treatment: pyridoxine, drinking large volumes, alkalinzation of urine, pyrophosphate-containing solutions, liver-kidney transplant

Non-genetic confirmatory testing: urinary oxalate

PMID 36688940: Study on <21yo with nephrolithiasis/nephrocalcinosis (NL/NC), HOGA1 variants most common with NL PH type 3 with calcium oxalate stones and history of hyperoxaluria.
Created: 12 Mar 2025, 2:39 a.m. | Last Modified: 12 Mar 2025, 2:39 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type III; MIM#613616

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Predominantly renal involvement, not suitable for inclusion in the panel.
Created: 18 Aug 2022, 6:56 a.m. | Last Modified: 18 Aug 2022, 6:56 a.m.
Panel Version: 0.152

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type III (MIM#613616)

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well-established association with primary hyperoxaluria type III (PH3). Variable phenotype

Three distinct genetic forms of PH have been defined: PH1–3. PH3 might be the least severe form with a milder phenotype with good preservation of kidney function in most patients. It does not develop ESRD generally
Sources: Literature
Created: 25 Jul 2022, 3:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type III (MIM#613616)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hyperoxaluria, primary, type III (MIM#613616)
OMIM
613597
Clinvar variants
Variants in HOGA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Mar 2025, Gel status: 1

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: HOGA1 were set to 31123811

18 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoga1 has been classified as Red List (Low Evidence).

18 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoga1 has been classified as Red List (Low Evidence).

18 Aug 2022, Gel status: 0

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: HOGA1.

26 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: HOGA1.

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: HOGA1 was added gene: HOGA1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOGA1 were set to 31123811 Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III (MIM#613616) Review for gene: HOGA1 was set to AMBER