BCAT2

branched chain amino acid transaminase 2
OMIM: 113530, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green BCAT2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypervalinemia or hyperleucine-isoleucinemia MIM#618850
  • disorder of branched-chain amino acid metabolism

Green BCAT2 in Aminoacidopathy


Level 2: Metabolic disorders
Version 1.128

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058