APOO

apolipoprotein O
OMIM: 300753, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red APOO in Mitochondrial disorders


Level 2: Mitochondrial
Version 10.25
Latest signed off version: v10.18 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Literature
    Phenotypes
    • Developmental delay
    • Lactic acidosis
    • Muscle weakness
    • Hypotonia
    • Repetitive infections
    • Cognitive impairment
    • Autistic behaviour
    Tags
    • Skewed X-inactivation