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  2. Familial chylomicronaemia syndrome (FCS)
  3. APOE
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Familial chylomicronaemia syndrome (FCS)

Gene: APOE

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: APOE variants have also been associated with Sea-blue histiocyte disease 269600 & Alzheimer disease-2 104310
Created: 4 Mar 2021, 3:54 p.m. | Last Modified: 4 Mar 2021, 3:54 p.m.
Panel Version: 1.8
Created: 4 Mar 2021, 3:54 p.m.
Last Modified: 4 Mar 2021, 3:54 p.m.
Panel version: 1.8

Maggie Williams (North Bristol NHS Trust)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jul 2019, 4:03 p.m.
Last Modified: 4 Jul 2019, 4:03 p.m.
Panel version: 0.6

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Hyperlipoproteinemia, type III OMIM:617347
  • hyperlipoproteinemia type 3 MONDO:0018473
  • Lipoprotein glomerulopathy OMIM:611771
  • lipoprotein glomerulopathy MONDO:0012725
OMIM
107741
Clinvar variants
Variants in APOE
Penetrance
None
Panels with this gene

History Filter Activity

4 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: APOE were changed from Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III OMIM:617347; hyperlipoproteinemia type 3 MONDO:0018473; Lipoprotein glomerulopathy OMIM:611771; lipoprotein glomerulopathy MONDO:0012725

4 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: APOE were changed from Sea-blue histiocyte disease 269600; Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310

4 Jul 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: APOE was added gene: APOE was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: APOE were set to Sea-blue histiocyte disease 269600; Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310