PSEN1

presenilin 1
OMIM: 104311, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green PSEN1 in Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Acne inversa, familial, 3, 613737

Green PSEN1 in COVID-19 research


Level 2: Viral research
Version 1.130

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification February 2018
Phenotypes
  • Hidradenitis suppurative with cutaneous hyperpigmentation
  • Acne inversa, familial, 3 613737
  • Defects in Intrinsic and Innate Immunity

Green PSEN1 in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.79

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acne inversa, familial, 3, 613737
  • Alzheimer disease, type 3, 607822
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822
  • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822
  • Cardiomyopathy, dilated, 1U, 613694
  • Dementia, frontotemporal, 600274
  • Pick disease, 172700
  • Clinical syndrome Alzheimer disease

Red PSEN1 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.117

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Amber PSEN1 in Rare genetic inflammatory skin disorders


Version 1.54
Latest signed off version: v1.6 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • ACNE INVERSA, FAMILIAL, 3
  • ACNINV3

Amber PSEN1 in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.78

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, dilated, 1U

Red PSEN1 in Primary immunodeficiency


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Hidradenitis suppurative with cutaneous hyperpigmentation
  • Defects in Intrinsic and Innate Immunity
  • Acne inversa, familial, 3 613737

Red PSEN1 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.295

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia
  • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques

Red PSEN1 in Hereditary spastic paraplegia - childhood onset


Version 2.145
Latest signed off version: v2.18 (8 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia
  • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques

Green PSEN1 in Hereditary spastic paraplegia - adult onset


Version 1.102
Latest signed off version: v1.27 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • South West GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia
  • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques

Green PSEN1 in Neurodegenerative disorders - adult onset


Version 2.275
Latest signed off version: v2.178 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, OMIM:607822
  • Alzheimer disease, type 3, with spastic paraparesis and apraxia, OMIM:607822
  • Dystonia
  • Dementia, frontotemporal, OMIM:600274
  • Pick disease, OMIM:172700
  • Alzheimer disease, type 3, OMIM:607822

Red PSEN1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Alzheimer disease, type 3, 607822
    • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822
    • Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822
    • Dementia, frontotemporal, 600274
    • Pick disease, 172700

    Red PSEN1 in Adult onset movement disorder


    Version 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Pick disease, 172700
    • Dementia, frontotemporal 600274
    • Alzheimer disease, type 3, 607822
    • Cardiomyopathy, dilated, 1U, 613694
    • Dystonia

    Red PSEN1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.246
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    Phenotypes
    • Alzheimer disease, type 3, 607822
    • Pick disease, 172700
    • Dementia, frontotemporal 600274
    • Cardiomyopathy, dilated, 1U, 613694

    Green PSEN1 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Acne inversa, familial, 3, 613737
    • Alzheimer disease, type 3, 607822
    • Pick disease, 172700
    • Cardiomyopathy, dilated, 1U, 613694
    • Dementia, frontotemporal, 600274
    • Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822
    • Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822