Dystonia - complex
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene are typically associated with Alzheimer's disease and other dementias but there are reports of complex movement disorders preceding or as part of dementia presentations.Created: 8 Sep 2020, 11:39 p.m. | Last Modified: 8 Sep 2020, 11:41 p.m.
Panel Version: 0.119
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dementia, frontotemporal, MIM# 600274
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Frontotemporal dementia, MIM# 600274
- Dystonia
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early-onset Parkinson disease
- Leukodystrophy - adult onset
- Incidentalome
- Early-onset Dementia
- Hereditary Spastic Paraplegia - adult onset
- Neurodegeneration with brain iron accumulation
- Defects of intrinsic and innate immunity
- Additional findings_Paediatric
- Incidentalome_PREGEN_DRAFT
- Dystonia - complex
- BabyScreen+ newborn screening
- Cerebral amyloid angiopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psen1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PSEN1 were changed from Frontotemporal dementia; Dystonia to Frontotemporal dementia, MIM# 600274; Dystonia
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psen1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psen1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PSEN1 was added gene: PSEN1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSEN1 were set to 28664294; 12810495; 15159497; 29316780 Phenotypes for gene: PSEN1 were set to Frontotemporal dementia; Dystonia