Immunodeficiency, developmental delay, and hypohomocysteinemia: genes and variants
Immunodeficiency, developmental delay, and hypohomocysteinemia is linked to 1 analyzed protein (NFE2L2). 3 DNA variants are known to cause it; 14 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Immunodeficiency, developmental delay, and hypohomocysteinemia
NFE2L2: Nuclear factor erythroid 2-related factor 2
It activates antioxidant, detoxification, and metabolic genes when released from KEAP1-mediated degradation. Somatic activating variants can lock cancer cells into a persistent stress-resistant state and promote therapy resistance.
3 disease-causing and 14 uncertain variants in NFE2L2 are linked to Immunodeficiency, developmental delay, and hypohomocysteinemia.
Known disease-causing variants in Immunodeficiency, developmental delay, and hypohomocysteinemia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NFE2L2 G31R | 31 | DLG motif | Disease-causing |
| NFE2L2 E79K | 79 | ETGE motif | Disease-causing |
| NFE2L2 G81S | 81 | ETGE motif | Disease-causing |
Diseases related to Immunodeficiency, developmental delay, and hypohomocysteinemia
- Colorectal cancer, also linked to NFE2L2
- Lung cancer, also linked to NFE2L2
- Hepatocellular carcinoma, also linked to NFE2L2
Frequently asked questions
Which genes are linked to Immunodeficiency, developmental delay, and hypohomocysteinemia?
In CATVariant, Immunodeficiency, developmental delay, and hypohomocysteinemia is linked to 1 analyzed protein: NFE2L2 (Nuclear factor erythroid 2-related factor 2).
How many genetic variants are linked to Immunodeficiency, developmental delay, and hypohomocysteinemia?
19 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 14 are of uncertain significance or have conflicting reports.
Which uncertain variants in Immunodeficiency, developmental delay, and hypohomocysteinemia look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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