HOGA1

4-hydroxy-2-oxoglutarate aldolase 1
OMIM: 613597, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green HOGA1 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperoxaluria, primary, type III MIM#613616

Red HOGA1 in Prepair 1000+


Level 2: Screening
Version 3.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hyperoxaluria, primary, type III (MIM#613616)

Green HOGA1 in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • primary hyperoxaluria type 3 MONDO:0013327
  • Disorders of ornithine, proline and hydroxyproline metabolism

Green HOGA1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperoxaluria, primary, type III MIM#613616
Tags
  • treatable
  • metabolic

Green HOGA1 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

2 reviews 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