Childhood onset hereditary spastic paraplegia
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Vicotria: Green. In sheffield HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Phenotypes
Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- Expert Review Red
- NHS GMS
- London North GLH
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Alzheimer disease, type 3, with spastic paraparesis and apraxia
- Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- None
- 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
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to PSEN1.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: psen1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: psen1 has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PSEN1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to PSEN1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques for gene: PSEN1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)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