PSEN1 Chromosome 14

Presenilin 1

154 variants 154 Health Risk

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What This Gene Does

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]

Gene Info

Gene Group

"Presenilin family|Gamma-secretase complex subunits"

Locus Type

gene with protein product

Location

14q24.2

Ensembl

ENSG00000080815

Associated Conditions (35)

Dilated cardiomyopathy 1U

Alzheimer disease 3

Pick disease

Acne inversa

familial

Frontotemporal dementia

PSEN1-related disorder

Primary dilated cardiomyopathy

Heart failure

Inborn genetic diseases

Colon adenocarcinoma

Alzheimer disease

with spastic paraparesis and apraxia

Telangiectasia

hereditary hemorrhagic

type 1

with unusual plaques

Alzheimer disease familial 3

with spastic paraparesis

+15 more conditions

Key Variants

RS115760359

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1U, Alzheimer disease 3, Pick disease

Health Risk

RS116466962

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1U, Alzheimer disease 3, Pick disease

Health Risk

RS116640707

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1U, Alzheimer disease 3, Frontotemporal dementia

Health Risk

RS117394753

Conflicting classifications of pathogenicity

Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3

Health Risk

RS121917809

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1U, Primary dilated cardiomyopathy, Heart failure

Health Risk

RS138620990

Conflicting classifications of pathogenicity

Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3

Health Risk

RS1398951357

Conflicting classifications of pathogenicity

Acne inversa, familial, 3

Health Risk

RS141799841

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1U, Alzheimer disease 3, Dilated cardiomyopathy 1U

Health Risk

RS143782428

Conflicting classifications of pathogenicity

Alzheimer disease 3, Dilated cardiomyopathy 1U, Pick disease

Health Risk

RS144455736

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1U, Alzheimer disease 3, Dilated cardiomyopathy 1U

Health Risk

RS147866042

Conflicting classifications of pathogenicity

Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3

Health Risk

RS149562759

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1U, Alzheimer disease 3, Colon adenocarcinoma

Health Risk

All Variants (154)

RSID	Category	Clinical Significance	Conditions
RS115760359	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Pick disease
RS116466962	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Pick disease
RS116640707	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Frontotemporal dementia
RS117394753	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
RS121917809	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Primary dilated cardiomyopathy, Heart failure
RS138620990	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
RS1398951357	Health Risk	Conflicting classifications of pathogenicity	Acne inversa, familial, 3
RS141799841	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Dilated cardiomyopathy 1U
RS143782428	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Dilated cardiomyopathy 1U, Pick disease
RS144455736	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Dilated cardiomyopathy 1U
RS147866042	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
RS149562759	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Colon adenocarcinoma
RS150301281	Health Risk	Conflicting classifications of pathogenicity	Acne inversa, familial, 3
RS150550252	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
RS1566630910	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease, Frontotemporal dementia, Pick disease
RS1566641934	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Alzheimer disease 3
RS181726819	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Dilated cardiomyopathy 1U
RS186495252	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Dilated cardiomyopathy 1U
RS1897878139	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Pick disease, Acne inversa
RS1897961716	Health Risk	Conflicting classifications of pathogenicity	Pick disease, Frontotemporal dementia, Alzheimer disease 3
RS190718487	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
RS192302611	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Dilated cardiomyopathy 1U
RS192897390	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
RS199723282	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Pick disease, Acne inversa
RS200373970	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Pick disease, Frontotemporal dementia
RS200692223	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
RS200824179	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Pick disease, Frontotemporal dementia
RS201216284	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Frontotemporal dementia, Pick disease
RS201496204	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Frontotemporal dementia, Pick disease
RS201500006	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Pick disease
RS201776669	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Frontotemporal dementia
RS2502921178	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Acne inversa, familial
RS362387	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
RS368329004	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Dilated cardiomyopathy 1U
RS376433615	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Frontotemporal dementia, Acne inversa
RS538178628	Health Risk	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1U, Alzheimer disease 3, Dilated cardiomyopathy 1U
RS574941431	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Dilated cardiomyopathy 1U, Alzheimer disease 3
RS63749925	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Acne inversa, familial
RS63750083	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Pick disease, Acne inversa
RS63750227	Health Risk	Conflicting classifications of pathogenicity	Pick disease, Frontotemporal dementia, Alzheimer disease 3
RS63750592	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease, Alzheimer disease 3, Acne inversa
RS63751003	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Frontotemporal dementia, Acne inversa
RS63751130	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Alzheimer disease 3
RS63751420	Health Risk	Conflicting classifications of pathogenicity	Pick disease, Frontotemporal dementia, Alzheimer disease 3
RS759538127	Health Risk	Conflicting classifications of pathogenicity	Alzheimer disease 3, Frontotemporal dementia, Pick disease
RS764971634	Health Risk	Conflicting classifications of pathogenicity	Acne inversa, familial, 3
RS121917807	Health Risk	Likely pathogenic	Alzheimer disease, familial, 3
RS1362575880	Health Risk	Likely pathogenic	Acne inversa, familial, 3
RS1555354564	Health Risk	Likely pathogenic	—
RS1555354581	Health Risk	Likely pathogenic	—

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