APOE

apolipoprotein E
OMIM: 107741, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber APOE in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Alzheimer disease 2, MIM# 104310

    Green APOE in Incidentalome


    Version 0.301

    review Unknown
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Alzheimer disease 2, MIM# 104310
    • Hyperlipoproteinemia, type III (MIM#617347)
    • Sea-blue histiocyte disease (MIM#269600)
    Tags
    • adult onset neurodegenerative

    Green APOE in Proteinuria


    Level 2: Renal and urinary tract disorders
    Version 0.225

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lipoprotein glomerulopathy, MIM#611771

    Green APOE in Dyslipidaemia


    Level 2: Endocrine disorders
    Version 0.41

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy

    Green APOE in Familial hypercholesterolaemia


    Level 2: Cardiovascular disorders
    Version 0.27

    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
    • Hyperlipoproteinemia, type III (MIM#617347)
    • Sea-blue histiocyte disease (MIM#269600)

    Red APOE in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Sea-blue histiocyte disease

    Red APOE in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Sea-blue histiocyte disease

    Green APOE in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy