Early-onset Parkinson disease
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 12 panels
1 review
Kaitlyn Dianna Weldon (University of Melbourne)
PMID: 35489321
- 1 Chinese family with 10 individuals with PSEN1 G417S mutation presenting early-onset parkinsons disease
34843019:
- Chinese patient with a de novo mutation in PSEN1 (c.697A > G, p.M233V) presenting with early-onset parkinsonism
36825052:
- Forty-two cases of pathogenic variants in the PSEN1 gene presenting with parkinsonism have been published in the literature (Created: 25 Aug 2023, 6:19 a.m. | Last Modified: 25 Aug 2023, 6:19 a.m.
Panel Version: 0.243
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
early-onset parkinsons disease
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Alzheimer disease 3 MONDO:0011913
- 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 Green List (High Evidence).
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: PSEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: PSEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: PSEN1 were set to
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: PSEN1 were changed from to Alzheimer disease 3 MONDO:0011913
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PSEN1 was added gene: PSEN1 was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: PSEN1 was set to Unknown