Hereditary spastic paraplegia
Gene: PSEN1
PSEN1 (presenilin 1)
EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019Created: 3 May 2019, 9:01 a.m.
helen kingston (CMFT NHS Foundation Trust, Manchester)
emma baple (Genomics England Curator)
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 hereCreated: 10 May 2016, 12:55 p.m.
Details
- Sources
-
- Expert Review Red
- 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
- Complete
- 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
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PSEN1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen