APOA5

apolipoprotein A5
OMIM: 606368
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperchylomicronemia, late-onset OMIM:144650, hyperlipoproteinemia type V MONDO:0007762, {Hypertriglyceridemia, susceptibility to} OMIM:145750, hypertriglyceridemia, familial MONDO:0007788
R-numbers: R324
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperchylomicronemia, late-onset OMIM:144650, hyperlipoproteinemia type V MONDO:0007762, {Hypertriglyceridemia, susceptibility to} OMIM:145750, hypertriglyceridemia, familial MONDO:0007788