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COVID-19 research

Gene: NFE2L2

Green List (high evidence)
NFE2L2 (nuclear factor, erythroid 2 like 2)
EnsemblGeneIds (GRCh38): ENSG00000116044
EnsemblGeneIds (GRCh37): ENSG00000116044
OMIM: 600492, Gene2Phenotype
NFE2L2 is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

4 cases described all resulted from de novo activating mutations
Created: 1 May 2020, 11:15 a.m. | Last Modified: 1 May 2020, 11:15 a.m.
Panel Version: 0.171

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
growth retardation; developmental delay; leukodystrophy; recurrent infections; hypogammaglobulinaemia; hypohomocysteinaemia; increased G-6-P-dehydrogenase activity

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 1 May 2020, 11:15 a.m.
Last Modified: 1 May 2020, 11:15 a.m.
Panel version: 0.171

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: Imported from Primary immunodeficiency panel version 2.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Recurrent respiratory and skin infections, growth retardation, , developmental delay
  • NFE2L2 GOF
  • increased expression of stress response genes
  • Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744
  • Combined immunodeficiencies with associated or syndromic features
  • white matter cerebral lesions, increased level of homocysteine
OMIM
600492
Clinvar variants
Variants in NFE2L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to NFE2L2. Added phenotypes Recurrent respiratory and skin infections, growth retardation, , developmental delay; increased expression of stress response genes; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; white matter cerebral lesions, increased level of homocysteine; Combined immunodeficiencies with associated or syndromic features; NFE2L2 GOF for gene: NFE2L2 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NFE2L2 was added gene: NFE2L2 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFE2L2 were set to 32086639; 32048120; 29018201 Phenotypes for gene: NFE2L2 were set to Recurrent respiratory and skin infections, growth retardation, , developmental delay; increased expression of stress response genes; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; white matter cerebral lesions, increased level of homocysteine; Combined immunodeficiencies with associated or syndromic features; NFE2L2 GOF