APOA5

apolipoprotein A5
OMIM: 606368, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green APOA5 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
  • Hyperchylomicronemia, late-onset MIM#144650
  • {Hypertriglyceridemia, susceptibility to} MIM#145750

Green APOA5 in Dyslipidaemia


Level 2: Endocrine disorders
Version 0.41

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Hyperchylomicronemia

    Red APOA5 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Hyperchylomicronaemia, late-onset, MIM# 144650
    Tags
    • treatable

    Green APOA5 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Hyperchylomicronemia