Adult onset dystonia, chorea or related movement disorder
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:45 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
PMID 28664294 reports one patient with early onset dystonia-parkinsonism. PMID 29316780 descibes a patient (and ?other family members) with neuropsychiatric and neurological symtoms, including dystonia in the probandCreated: 23 Apr 2019, 12:14 p.m.
Phenotypes
Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal 600274; Pick disease, 172700
Publications
Details
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Pick disease, 172700
- Dementia, frontotemporal 600274
- Alzheimer disease, type 3, 607822
- Cardiomyopathy, dilated, 1U, 613694
- Dystonia
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- None
- Publications
- Panels with this gene
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- 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 Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Pick disease, 172700; Dementia, frontotemporal 600274; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694 for gene: PSEN1 Publications for gene PSEN1 were changed from to 29316780; 28664294
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PSEN1.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to PSEN1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PSEN1 was added gene: PSEN1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PSEN1 was set to Phenotypes for gene: PSEN1 were set to Dystonia