BCAT2

branched chain amino acid transaminase 2
OMIM: 113530
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)