Hereditary spastic paraplegia - childhood onsetGene: PSEN1
Adult onset only with features of dementia.
Created: 10 May 2019, 8:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Red gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Red rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.
Red rating on Hereditary spastic paraplegia panel 1.198.
helen kingston (CMFT NHS Foundation Trust, Manchester)
5 Nov 2017 Submitted Green rating.
Comment when marking as ready: Given the primary association is with dementia and this is gene is included on the associated panel we have excluded it here.
emma baple (Genomics England Curator), 10 May 2016. Submitted Red rating.
Created: 2 May 2019, 4:42 p.m.
Vicotria: Green. In sheffield HSP panel
Created: 28 Apr 2019, 4:16 p.m.
Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques
Mode of inheritance for gene: PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Yorkshire and North East GLH was added to PSEN1.
Gene: psen1 has been classified as Red List (Low Evidence).
Gene: psen1 has been classified as Green List (High Evidence).
Source NHS GMS was added to PSEN1.
Source London North GLH was added to PSEN1.
Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques for gene: PSEN1
Rebecca Foulger: Comment on list classification
gene: PSEN1 was added gene: PSEN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: PSEN1 was set to Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and apraxia