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Inborn errors of metabolism

Gene: APOE

Green List (high evidence)

APOE (apolipoprotein E)
EnsemblGeneIds (GRCh38): ENSG00000130203
EnsemblGeneIds (GRCh37): ENSG00000130203
OMIM: 107741, Gene2Phenotype
APOE is in 6 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

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

Ellen McDonagh (Genomics England Curator)

gene: APOE was added gene: APOE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: APOE were set to 27604308; 24816252 Phenotypes for gene: APOE were set to Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias); Hyperlipoproteinemia, type III 617347; Sea-blue histiocyte disease 269600; Lipoprotein glomerulopathy 611771