Early-onset Dementia
Gene: APOE
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
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
Gene: apoe has been classified as Amber List (Moderate Evidence).
Gene: apoe has been classified as Green List (High Evidence).
Phenotypes for gene: APOE were changed from to Alzheimer disease 2, MIM# 104310
Mode of inheritance for gene: APOE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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