Proteinuric renal disease
Gene: APOEComment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review.Created: 16 Oct 2020, 8:04 a.m. | Last Modified: 16 Oct 2020, 8:04 a.m.
Panel Version: 2.28
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 7 Mar 2022, 11:37 p.m. | Last Modified: 7 Mar 2022, 11:37 p.m.
Panel Version: 2.66
Set Penetrance to incomplete as several reports of unaffected individuals who carry the same variants as affected individuals.Created: 30 Mar 2020, 7:53 p.m. | Last Modified: 30 Mar 2020, 7:53 p.m.
Panel Version: 2.19
Comment on list classification: Changing rating from grey to green as many published cases of variants in APOE in patients with Lipoprotein glomerulopathyCreated: 30 Mar 2020, 7:50 p.m. | Last Modified: 30 Mar 2020, 7:50 p.m.
Panel Version: 2.17
Associated with Lipoprotein glomerulopathy #611771 in OMIM. No inheritance pattern listed.
Several publications report variants in the APOE gene in association with Lipoprotein glomerulopathy, mostly in individuals of Asian ethnicity but also in those with European ancestry (for example PMID: 18077821 - Rovin et al 2007). PMID: 31092271 - Xie et al 2019 lists many of the published variants (~12 to date, mostly point mutations, but also some deletions)
In several cases clinical asymptomatic carriers (all female?) also carry the same variants as probands e.g.
PMID: 18077821 - Rovin et al 2007
PMID: 10432380 - Matsunaga et al 1999
PMID: 31092271 - Xie et al 2019
Created: 30 Mar 2020, 5:17 p.m. | Last Modified: 30 Mar 2020, 7:49 p.m.
Panel Version: 2.16
Specific variants in Japanese/Chinese linked to the development of a glomerulopathy, characterised by proteinuria, renal failure and deposition of lipoprotein thrombi.
Sources: Expert listCreated: 9 Jan 2020, 3:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lipoprotein glomerulopathy, MIM# 611771
Publications
Phenotypes for gene: APOE were changed from Lipoprotein glomerulopathy, MIM# 611771 to Lipoprotein glomerulopathy, OMIM:611771
Tag for-review was removed from gene: APOE.
Source Expert Review Green was added to APOE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: apoe has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: APOE.
Source Expert list was removed from APOE. Source Literature was added to APOE. Penetrance for gene APOE was set from to None
Publications for gene: APOE were set to 10432380; 9176854; 18077821
Gene: apoe has been classified as Green List (High Evidence).
gene: APOE was added gene: APOE was added to Proteinuric renal disease. Sources: Expert list Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOE were set to 10432380; 9176854; 18077821 Phenotypes for gene: APOE were set to Lipoprotein glomerulopathy, MIM# 611771 Review for gene: APOE was set to GREEN