APOO

apolipoprotein O
OMIM: 300753, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber APOO in Mendeliome


Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, APOO-related
  • Developmental delay
  • Lactic acidosis
  • Muscle weakness
  • Hypotonia
  • Repetitive infections
  • Cognitive impairment
  • Autistic behaviour

Amber APOO in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

3 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, APOO-related
  • Developmental delay
  • Lactic acidosis
  • Muscle weakness
  • Hypotonia
  • Repetitive infections
  • Cognitive impairment
  • Autistic behaviour