Genomics England
GMS Panels
Panels
Genes and Entities

APOE

apolipoprotein E
OMIM: 107741
PanelMode of inheritanceDetails
4 panels
Green
in Familial chylomicronaemia syndrome (FCS)
R-numbers: R324
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperlipoproteinemia, type III OMIM:617347, hyperlipoproteinemia type 3 MONDO:0018473, Lipoprotein glomerulopathy OMIM:611771, lipoprotein glomerulopathy MONDO:0012725
Green
in Familial hypercholesterolaemia (GMS)
R-numbers: R134
Signed-off version 2.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperlipoproteinemia, type III, OMIM:617347
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias), Hyperlipoproteinemia, type III 617347, Sea-blue histiocyte disease 269600, Lipoprotein glomerulopathy 611771
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lipoprotein glomerulopathy, OMIM:611771