Early-onset Dementia
Gene: PSEN2

PSEN2 (presenilin 2)
EnsemblGeneIds (GRCh38): ENSG00000143801
EnsemblGeneIds (GRCh37): ENSG00000143801
OMIM: 600759, Gene2Phenotype
PSEN2 is in 8 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Mutations in PSEN2 cause about 5% of the reported early onset AD cases at reduced penetrance.

PMID: 22503161
4 unrelated Turkish families were found to carry mutations in the PSEN2 gene however only two of the families were reported to have dementia like phenotype.

PMID: 35491795
Reported in multiple individuals with AD and dementia phenotypes.
In vitro functional assay using HEK293T cells on the PSEN2 variants determined that the method of pathogenesis remains inconclusive and further investigation is required for confirmation.
Created: 16 Aug 2023, 1:03 a.m. | Last Modified: 16 Aug 2023, 1:03 a.m.

Panel Version: 0.179

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Alzheimer disease-4 (MIM#606889)

Publications

Mode of pathogenicity
Other

Created: 16 Aug 2023, 1:03 a.m.
Last Modified: 16 Aug 2023, 1:03 a.m.
Panel version: 0.179

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-4 (MIM#606889)

OMIM

600759

Clinvar variants

Variants in PSEN2

Penetrance

None

Publications

Panels with this gene