Adult onset leukodystrophy
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 5:56 p.m. | Last Modified: 30 Jan 2023, 5:56 p.m.
Panel Version: 2.46
PSEN1 variants are sssociated with OMIM:607822 & OMIM:600274, but not with a phenotype in Gen2Phen. Numerous PSEN1 variants have been reported in these conditions and PSEN1 related cerebral amyloid angiopathy is seen within a number of cases of Alzheimer disease, type 3 (OMIM:607822)(PMID: 26888304,11489138, 11395394, 34319632).Created: 5 Jan 2023, 12:56 p.m. | Last Modified: 5 Jan 2023, 12:56 p.m.
Panel Version: 2.30
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 5 Jan 2023, 12:49 p.m. | Last Modified: 5 Jan 2023, 12:49 p.m.
Panel Version: 2.30
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: PSEN1 related cerebral amyloid angiopathy. Evidence: PMID: 26888304,11489138, 11395394, 34319632: Amyloid angiopathy present in a significant poportion of of PSEN1-related familail Alzheimer's disease..Created: 22 Dec 2022, 2:01 p.m. | Last Modified: 22 Dec 2022, 2:01 p.m.
Panel Version: 2.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PSEN1 related cerebral amyloid angiopathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Alzheimer disease, type 3, OMIM:607822
- Alzheimer disease 3, MONDO:0011913
- Dementia, frontotemporal, OMIM:600274
- semantic dementia, MONDO:0010857
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- None
- 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
- Intellectual disability
- 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
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: PSEN1. Tag Q1_23_NHS_review was removed from gene: PSEN1.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to PSEN1. Source NHS GMS was added to PSEN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: PSEN1. Tag Q1_23_NHS_review tag was added to gene: PSEN1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: psen1 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PSEN1 were changed from to Alzheimer disease, type 3, OMIM:607822; Alzheimer disease 3, MONDO:0011913; Dementia, frontotemporal, OMIM:600274; semantic dementia, MONDO:0010857
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PSEN1 were set to
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: PSEN1 was added gene: PSEN1 was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: PSEN1 was set to