Early-onset Dementia
Gene: APOE

APOE (apolipoprotein E)
EnsemblGeneIds (GRCh38): ENSG00000130203
EnsemblGeneIds (GRCh37): ENSG00000130203
OMIM: 107741, Gene2Phenotype
APOE is in 8 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

E4 is a risk factor for Alzheimer’s disease and has the Cys130Arg variant
Cys130Arg has 24455 hets and 2091 homs in gnomAD

E4 allele appears to act as a risk factor

Likely toxic GOF- PMID: 33679311 talks about the E4 allele being poorly lipidated because it has reduced binding affinity for HDL. This greater proportion of unlipidated APOE forms aggregates that are toxic to neurons.
Created: 31 Mar 2022, 11:49 p.m. | Last Modified: 31 Mar 2022, 11:49 p.m.

Panel Version: 0.154

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

Phenotypes
Alzheimer disease 2 MIM#104310

Publications

PMID: 33679311

Mode of pathogenicity
Other

Created: 31 Mar 2022, 11:49 p.m.
Last Modified: 31 Mar 2022, 11:49 p.m.
Panel version: 0.154

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

E4 allele association with late-onset AD. Susceptibility allele.
Created: 25 Sep 2020, 12:10 a.m. | Last Modified: 1 Jun 2022, 7:26 a.m.

Panel Version: 0.154

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alzheimer disease 2, MIM# 104310

Created: 25 Sep 2020, 12:10 a.m.
Last Modified: 1 Jun 2022, 7:26 a.m.
Panel version: 0.154

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Alzheimer disease 2, MIM# 104310

OMIM

107741

Clinvar variants

Variants in APOE

Penetrance

None

Panels with this gene