Genomics England
GMS Panels
Panels
Genes and Entities

CAT

catalase
OMIM: 115500
PanelMode of inheritanceDetails
1 panel
Green
in Likely inborn error of metabolism
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 6.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acatalasaemia (Other peroxisomal disorders), Acatalasemia, 614097