APOO

apolipoprotein O
OMIM: 300753, Gene2Phenotype

1 panel

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

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • 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