Neurodegeneration with brain iron accumulation
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single case has been reported with a de novo variant and iron accumulation in the brain.
Sources: LiteratureCreated: 10 Nov 2020, 11:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration with brain iron accumulation; Frontotemporal dementia, MIM# 600274
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Neurodegeneration with brain iron accumulation
- Frontotemporal dementia, MIM# 600274
- 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
Bryony Thompson (Royal Melbourne Hospital)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 Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN1 were set to 28664294 Phenotypes for gene: PSEN1 were set to Neurodegeneration with brain iron accumulation; Frontotemporal dementia, MIM# 600274 Review for gene: PSEN1 was set to RED