BCAT2:Ensemblv90

branched chain amino acid transaminase 2
OMIM: 113530, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green BCAT2 in Mendeliome


Version 1.3802

1 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 1.138

Component of the following Super Panels:

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

    Green BCAT2 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.0

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