Likely inborn error of metabolism
Gene: APOE

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. Numerous variants reported in Hyperlipoproteinemia, type III 617347. According to Orfanet mode of inheritance for MIM 617347 can be monoallelic, or multigenic/multifactorial, for MIM 611771 and MIM 269600 to be autosomal dominant.
Created: 23 Feb 2017, 5:12 p.m.

Mode of inheritance
Other - please specify in evaluation comments

Phenotypes
Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Sea-blue histiocyte disease 269600

Publications

27604308

Created: 23 Feb 2017, 5:12 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Green

Phenotypes

Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias)
Hyperlipoproteinemia, type III 617347
Sea-blue histiocyte disease 269600
Lipoprotein glomerulopathy 611771

OMIM

107741

Clinvar variants

Variants in APOE

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to APOE. Source London North GLH was added to APOE.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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