Early-onset Dementia

Gene: APOE

Amber List (moderate evidence)

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

Mode of pathogenicity
Other

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

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

History Filter Activity

1 Jun 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: apoe has been classified as Amber List (Moderate Evidence).

25 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: apoe has been classified as Green List (High Evidence).

25 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: APOE were changed from to Alzheimer disease 2, MIM# 104310

25 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: APOE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: APOE was added gene: APOE was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: APOE was set to Unknown