PSEN1 - Gene browser

PSEN1

presenilin 1

HCNC Approved Symbol: PSEN1 (HGNC:9508)
Genomic Coordinates: 14:73,136,417 - 73,223,691 (14q24.2)
Synonyms: FAD, S182, PS1, PS-1, PSNL1, AD3
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the PSEN1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

010
Patient count

Dementia: 6 (60.0%)
Patient Count: 6 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (60.0%)
Alzheimer disease: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Cognitive decline: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Progressive dementia: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Bipolar affective disorder: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)