Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels
3 reviews
simon mead (UCL)
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: format changesCreated: 6 Feb 2017, 5:18 p.m.
Caroline Wright (Genomics England Curator)
Comment when marking as ready: On eligibility criteriaCreated: 10 May 2016, 11:28 a.m.
Comment on list classification: One of main well known causes of hereditary early onset ADCreated: 10 May 2016, 11:25 a.m.
Comment on mode of inheritance: See OMIMCreated: 10 May 2016, 11:21 a.m.
Details
- Mode of Inheritance
- 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
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Dilated Cardiomyopathy and conduction defects
- Adult onset leukodystrophy
- COVID-19 research
- Adult onset neurodegenerative disorder
- Familial hidradenitis suppurativa
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PSEN1 were set to 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
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Caroline Wright (Genomics England Curator)Publications for PSEN1 were set to 22503161;23028126
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for PSEN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)PSEN1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)PSEN1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)PSEN1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN