Early-onset Parkinson disease
Gene: PSEN2

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Parkinson disease and parkinsonism is not a prominent feature of Alzheimer disease caused by PSEN2. A couple of isolated cases with VUS and parkinsonism as a feature of the condition and a single family with multiple members with parkinsonism with pathogenic missense variant have been reported (PMID: 22118943, 26422362, 18427071). VUS or now likely benign/benign missense variants have been identified in Parkinson Disease cases used in case-control studies (PMID: 29692703, 26522186).
Sources: Other
Created: 11 Jun 2020, 9:26 a.m. | Last Modified: 11 Jun 2020, 9:39 a.m.

Panel Version: 0.31

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Parkinsonism; Alzheimer disease-4 MIM#606889

Publications

Created: 11 Jun 2020, 9:26 a.m.
Last Modified: 11 Jun 2020, 9:39 a.m.
Panel version: 0.31

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Other

Phenotypes

Parkinsonism
Alzheimer disease-4 MIM#606889

OMIM

600759

Clinvar variants

Variants in PSEN2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: psen2 has been classified as Red List (Low Evidence).

11 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PSEN2 was added gene: PSEN2 was added to Early-onset Parkinson disease. Sources: Other Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN2 were set to 22118943; 26422362; 18427071; 29692703 Phenotypes for gene: PSEN2 were set to Parkinsonism; Alzheimer disease-4 MIM#606889 Review for gene: PSEN2 was set to RED

Early-onset Parkinson disease Gene: PSEN2