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Metabolic renal disease_KidGen

Gene: AGXT

Green List (high evidence)
AGXT (alanine-glyoxylate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000172482
EnsemblGeneIds (GRCh37): ENSG00000172482
OMIM: 604285, Gene2Phenotype
AGXT is in 10 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperoxaluria, primary, type 1, MIM#259900
OMIM
604285
Clinvar variants
Variants in AGXT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: AGXT was added gene: AGXT was added to Metabolic renal disease_KidGen. Sources: Expert list,Expert Review Green Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 19479957; 10453743; PubMed: 1703535 Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, MIM#259900