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  3. NFE2L2
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Fetal anomalies

Gene: NFE2L2

Amber List (moderate evidence)
NFE2L2 (nuclear factor, erythroid 2 like 2)
EnsemblGeneIds (GRCh38): ENSG00000116044
EnsemblGeneIds (GRCh37): ENSG00000116044
OMIM: 600492, Gene2Phenotype
NFE2L2 is in 4 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Natalie Chandler (North Thames GLH)

I don't know

Green in ID & DDG2P panel UK. PMID 29018201Short stature and growth retardation 1st 3rdcentile but no info on onset, 2 short atature no info, 2 short ataure no inf4, 4th IUGR reported but non-identical twin. Heart4/4 thickened bicuspid valve, ASDx2, brain MRI3/3 white matter lesions and signal changes. Immunodeficiency. Amber?
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency, developmental delay, and hypohomocysteinemia, OMIM:617744; immunodeficiency, developmental delay, and hypohomocysteinemia, MONDO:0060591

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Immunodeficiency, developmental delay, and hypohomocysteinemia, OMIM:617744
  • immunodeficiency, developmental delay, and hypohomocysteinemia, MONDO:0060591
OMIM
600492
Clinvar variants
Variants in NFE2L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: NFE2L2 was added gene: NFE2L2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFE2L2 were set to 29018201 Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia, OMIM:617744; immunodeficiency, developmental delay, and hypohomocysteinemia, MONDO:0060591