PanelApp
  1. Genes and Genomic Entities
  2. PSEN1

PSEN1

presenilin 1
OMIM: 104311, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green PSEN1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.50

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 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, type 3 (MIM#607822
    • MONDO:0011913)

    Green PSEN1 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.43

    Component of the following Super Panels:

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

    		•  1 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 3 MONDO:0011913

    Green PSEN1 in Incidentalome


    Version 0.360

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

    Green PSEN1 in Defects of intrinsic and innate immunity


    Level 2: Immunological disorders
    Version 1.20

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Acne inversa, familial, 3 MIM#613737

    Green PSEN1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Frontotemporal dementia, MIM# 600274
    • Dystonia

    Green PSEN1 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.151

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

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

    Green PSEN1 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.15

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822

    Red PSEN1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Alzheimer disease, type 3

    Green PSEN1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		0 reviews Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Red PSEN1 in Neurodegeneration with brain iron accumulation


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.2

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodegeneration with brain iron accumulation
    • Frontotemporal dementia, MIM# 600274

    Red PSEN1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Alzheimer disease, type 3

    Green PSEN1 in Cerebral amyloid angiopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

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