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Proteinuric renal disease

Gene: APOE

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

3 reviews

Catherine Snow (Genomics England)

Comment 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
Created: 16 Oct 2020, 8:04 a.m.
Last Modified: 16 Oct 2020, 8:04 a.m.
Panel version: 2.28

Eleanor Williams (Genomics England Curator)

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 glomerulopathy
Created: 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
Created: 30 Mar 2020, 5:17 p.m.
Last Modified: 30 Mar 2020, 7:49 p.m.
Panel version: 2.66

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Specific variants in Japanese/Chinese linked to the development of a glomerulopathy, characterised by proteinuria, renal failure and deposition of lipoprotein thrombi.
Sources: Expert list
Created: 9 Jan 2020, 3:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lipoprotein glomerulopathy, MIM# 611771

Publications

Created: 9 Jan 2020, 3:22 a.m.

Panel version: 2.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lipoprotein glomerulopathy, OMIM:611771
OMIM
107741
Clinvar variants
Variants in APOE
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

7 Mar 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: APOE were changed from Lipoprotein glomerulopathy, MIM# 611771 to Lipoprotein glomerulopathy, OMIM:611771

7 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: APOE.

7 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to APOE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

24 Jun 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: APOE.

30 Mar 2020, Gel status: 3

Removed Source, Added New Source, Set penetrance

Eleanor Williams (Genomics England Curator)

Source Expert list was removed from APOE. Source Literature was added to APOE. Penetrance for gene APOE was set from to None

30 Mar 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: APOE were set to 10432380; 9176854; 18077821

30 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

9 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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