Adult onset leukodystrophy
Gene: PSEN1
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
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
Tag Q1_23_promote_green was removed from gene: PSEN1. Tag Q1_23_NHS_review was removed from gene: PSEN1.
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)
Tag Q1_23_promote_green tag was added to gene: PSEN1. Tag Q1_23_NHS_review tag was added to gene: PSEN1.
Gene: psen1 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Publications for gene: PSEN1 were set to
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