APOA5

apolipoprotein A5
OMIM: 606368, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green APOA5 in Mendeliome


Version 2.0

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

Green APOA5 in Dyslipidaemia


Level 2: Endocrine disorders; Cardiovascular disorders
Version 1.0

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

Red APOA5 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 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


Level 2: Screening
Version 1.0

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