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Severe Paediatric Disorders

Gene: APOE

Green List (high evidence)

APOE (apolipoprotein E)
EnsemblGeneIds (GRCh38): ENSG00000130203
EnsemblGeneIds (GRCh37): ENSG00000130203
OMIM: 107741, Gene2Phenotype
APOE is in 9 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: APOE; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hyperlipoproteinemia, type III, 617347 (3) | Lipoprotein glomerulopathy, 611771 (3) | Sea-blue histiocyte disease, 269600 (3); Mode of inheritance: ND | ND | Autosomal recessive
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Lipoprotein glomerulopathy, 611771
  • Hyperlipoproteinemia, type III, 617347
  • Sea-blue histiocyte disease, 269600
OMIM
107741
Clinvar variants
Variants in APOE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene APOE was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene APOE were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Lipoprotein glomerulopathy, 611771; Hyperlipoproteinemia, type III, 617347; Sea-blue histiocyte disease, 269600 for gene: APOE

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Lipoprotein glomerulopathy, 611771; Hyperlipoproteinemia, type III, 617347; Sea-blue histiocyte disease, 269600 for gene: APOE

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Lipoprotein glomerulopathy, 611771; Hyperlipoproteinemia, type III, 617347; Sea-blue histiocyte disease, 269600 for gene: APOE

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Sea-blue histiocyte disease, 269600; Lipoprotein glomerulopathy, 611771; Hyperlipoproteinemia, type III, 617347 for gene: APOE

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to APOE.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: APOE was added gene: APOE was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: APOE was set to