Genomics England
GMS Panels
Panels
Genes and Entities

BCAT2

branched chain amino acid transaminase 2
OMIM: 113530
PanelMode of inheritanceDetails
1 panel
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)