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Severe Paediatric Disorders

Gene: PSEN1

Green List (high evidence)

PSEN1 (presenilin 1)
EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 16 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PSEN1; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Acne inversa, familial, 3, 613737 (3) | Alzheimer disease, type 3, 607822 (3) | Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3) | Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3) | Cardiomyopathy, dilated, 1U, 613694 (3) | Dementia, frontotemporal, 600274 (3) | Pick disease, 172700 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
104311
Clinvar variants
Variants in PSEN1
Penetrance
None
Publications
Panels with this gene