This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
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 proband (but developed these as an adult).Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Cardiomyopathy, dilated, 1U, 613694
- Alzheimer disease, type 3, 607822
- Pick disease, 172700
- Dementia, frontotemporal 600274
- OMIM
- 104311
- Clinvar variants
- Variants in PSEN1
- Penetrance
- None
- Panels with this gene
-
- Adult onset leukodystrophy
- COVID-19 research
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Childhood onset hereditary spastic paraplegia
- Familial hidradenitis suppurativa
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Early onset dystonia
- Hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset dystonia, chorea or related movement disorder
- Rare genetic inflammatory skin disorders
- Adult onset hereditary spastic paraplegia
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene PSEN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Pick disease, 172700; Alzheimer disease, type 3, 607822; Dementia, frontotemporal 600274; Cardiomyopathy, dilated, 1U, 613694 for gene: PSEN1
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to PSEN1.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: PSEN1 was added gene: PSEN1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: PSEN1 was set to