Genomics England
GMS Panels
Panels
Genes and Entities

APOA5

apolipoprotein A5
OMIM: 606368
PanelMode of inheritanceDetails
2 panels
Green
in Familial chylomicronaemia syndrome (FCS)
R-numbers: R324
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hyperchylomicronemia, late-onset OMIM:144650, hyperlipoproteinemia type V MONDO:0007762, {Hypertriglyceridemia, susceptibility to} OMIM:145750, hypertriglyceridemia, familial MONDO:0007788
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hyperchylomicronemia, late-onset OMIM:144650, hyperlipoproteinemia type V MONDO:0007762, {Hypertriglyceridemia, susceptibility to} OMIM:145750, hypertriglyceridemia, familial MONDO:0007788