CAT:Ensemblv90

catalase
OMIM: 115500, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CAT in Mendeliome


Version 1.3802

1 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 0.56

Component of the following Super Panels:

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

    Green CAT in Peroxisomal Disorders


    Level 2: Metabolic disorders
    Version 1.0

    0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services