APOE

apolipoprotein E
OMIM: 107741, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Amber APOE in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • dementia
Green APOE in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.31

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Hyperlipoproteinemia, type III 617347
Green APOE in Familial chylomicronaemia syndrome (FCS)


Level 2: Lipids
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Hyperlipoproteinemia, type III OMIM:617347
  • hyperlipoproteinemia type 3 MONDO:0018473
  • Lipoprotein glomerulopathy OMIM:611771
  • lipoprotein glomerulopathy MONDO:0012725
Green APOE in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias)
  • Hyperlipoproteinemia, type III 617347
  • Lipoprotein glomerulopathy 611771
  • Sea-blue histiocyte disease 269600
Green APOE in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias)
    • Hyperlipoproteinemia, type III 617347
    • Sea-blue histiocyte disease 269600
    • Lipoprotein glomerulopathy 611771
    Green APOE in Proteinuric renal disease


    Level 2: Renal
    Version 5.7
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lipoprotein glomerulopathy, OMIM:611771
    Green APOE in Familial hypercholesterolaemia (GMS)


    Level 2: Lipids
    Version 2.5
    Latest signed off version: v2.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    Phenotypes
    • Hyperlipoproteinemia, type III, OMIM:617347
    Red APOE in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH