This Panel is marked as Internal
Dystonia - childhood onset
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Intellectual disability
- Adult onset leukodystrophy
- Familial hidradenitis suppurativa
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Rare genetic inflammatory skin disorders
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PSEN1 was added gene: PSEN1 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: PSEN1 was set to Unknown Phenotypes for gene: PSEN1 were set to Dystonia