CAT

catalase
OMIM: 115500, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green CAT in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acatalasemia MIM#614097
  • hypocatalasemia

Green CAT in Peroxisomal Disorders


Level 2: Metabolic disorders
Version 0.53

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green