Gene Symbol:
PSEN1
HGNC:9508
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q24.2
Filters:

Strong classifications

Alzheimer disease 3
Submitted as: OMIM:607822
AD
01/28/2021
Evaluated
03/31/2021
Submitted
semantic dementia
Submitted as: OMIM:600274
AD
01/28/2021
Evaluated
03/31/2021
Submitted
Pick disease
Submitted as: OMIM:172700
AD
01/28/2021
Evaluated
03/31/2021
Submitted
Alzheimer disease 3
Submitted as: OMIM:607822
AD
09/17/2015
Evaluated
03/02/2021
Submitted
Alzheimer disease 3
Submitted as: OMIM:607822
AD
02/05/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

early-onset autosomal dominant Alzheimer disease
Submitted as: Orphanet:1020
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted
behavioral variant of frontotemporal dementia
Submitted as: Orphanet:275864
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

dilated cardiomyopathy 1U
Submitted as: OMIM:613694
AD
07/11/2017
Evaluated
11/30/2023
Submitted
acne inversa, familial, 3
Submitted as: OMIM:613737
AD
04/09/2020
Evaluated
11/30/2023
Submitted
semantic dementia
Submitted as: OMIM:600274
AD
06/22/2022
Evaluated
11/30/2023
Submitted

Disputed Evidence classifications

dilated cardiomyopathy
AD
11/06/2020
Evaluated
10/18/2023
Submitted

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