PanelApp (test)
  1. Genes and Genomic Entities
  2. PSEN2

PSEN2

presenilin 2
OMIM: 600759, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PSEN2 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 Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Alzheimer disease-4 (MIM#606889)

    Red PSEN2 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Parkinsonism
    • Alzheimer disease-4 MIM#606889

    Green PSEN2 in Incidentalome


    Version 0.301

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PSEN2 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.140

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • early-onset autosomal dominant Alzheimer disease MONDO:0015140

    Red PSEN2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Alzheimer disease, type 4

    Green PSEN2 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Red PSEN2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Alzheimer disease, type 4

    Amber PSEN2 in Cerebral amyloid angiopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • cerebral amyloid angiopathy MONDO:0005620