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Newborns main panel

Gene: APOE

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 29204218 - single variant, p.Leu167del due to GOF, PMID: 22949395 - 14 individuals in 1 family with variant PMID: 35673444 - Iranian family of 3 PMID: 24267230 - 1 family. PMID: 30731287 - 22 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Apolipoprotein (apo) E Leu167del variant
OMIM
107741
Clinvar variants
Variants in APOE
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

13 Dec 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only was removed from gene: APOE.

26 Sep 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: APOE.

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to APOE. Added phenotypes Apolipoprotein (apo) E Leu167del variant for gene: APOE Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to APOE. Added phenotypes Apolipoprotein (apo) E Leu167del variant for gene: APOE Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to APOE. Mode of pathogenicity for gene APOE was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Apolipoprotein (apo) E Leu167del variant for gene: APOE Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: APOE was added gene: APOE was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: APOE were set to Apolipoprotein (apo) E Leu167del variant