Peroxisomal disorders
Gene: HOGA1

HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1)
EnsemblGeneIds (GRCh38): ENSG00000241935
EnsemblGeneIds (GRCh37): ENSG00000241935
OMIM: 613597, Gene2Phenotype
HOGA1 is in 6 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Link to peroxisomal disorders unclear.
Created: 20 Jul 2020, 10:16 a.m. | Last Modified: 20 Jul 2020, 10:16 a.m.

Panel Version: 1.6

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

Created: 20 Jul 2020, 10:16 a.m.
Last Modified: 20 Jul 2020, 10:16 a.m.
Panel version: 1.6

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P. At least six variants reported four unrelated patients
Created: 23 Aug 2016, 10:43 a.m.

Created: 23 Aug 2016, 10:43 a.m.

Panel version: 0.75

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Radboud University Medical Center, Nijmegen
UKGTN
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Hyperoxaluria, primary, type III 613616

OMIM

613597

Clinvar variants

Variants in HOGA1

Penetrance

Complete

Panels with this gene