AGXT2:Ensemblv90

alanine--glyoxylate aminotransferase 2
OMIM: 612471, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red AGXT2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • beta-aminoisobutyric acid, urinary excretion of MONDO:0008860

Red AGXT2 in Nucleotide metabolism disorders


Level 2: Metabolic disorders
Version 0.8

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Beta-aminoisobutyric acid, urinary excretion of MIM#210100

    Red AGXT2 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Beta-aminoisobutyric acid, urinary excretion of MIM#210100