Defects of intrinsic and innate immunity
Gene: PSEN1EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
4 families (1 with segregation data) with 3 putative loss of function variants, and supporting functional assays demonstrating that loss of function is the mechanism of disease (unlike dominant-negative variants that cause Alzheimer's disease).
Sources: Expert listCreated: 19 Mar 2021, 3:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Acne inversa, familial, 3 MIM#613737
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- ?Acne inversa, familial, 3 MIM#613737
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psen1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: psen1 has been classified as Green List (High 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 Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN1 were set to 20929727; 32048120; 33333507; 30544224 Phenotypes for gene: PSEN1 were set to ?Acne inversa, familial, 3 MIM#613737 Review for gene: PSEN1 was set to GREEN