Early onset dystonia
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
0 reviews
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- Complete
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Dystonia, chorea or related movement disorder, adult onset
- COVID-19 research
- Dilated Cardiomyopathy and conduction defects
- Neurodegenerative disorders, adult onset
- Familial hidradenitis suppurativa
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary spastic paraplegia, childhood onset
- Leukodystrophy, adult onset
- Intellectual disability
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary spastic paraplegia
- Rare genetic inflammatory skin disorders
- Hereditary spastic paraplegia, adult onset
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()PSEN1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory