1. Genes and Genomic Entities
  2. BCAT2

BCAT2

branched chain amino acid transaminase 2
OMIM: 113530, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red BCAT2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Green BCAT2 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
    Tags
    • treatable