NFE2L2

nuclear factor, erythroid 2 like 2
OMIM: 600492, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green NFE2L2 in COVID-19 research Level 2: Viral research Version 1.146	review	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
Green NFE2L2 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification December 2019 Phenotypes white matter cerebral lesions, increased level of homocysteine Recurrent respiratory and skin infections, growth retardation, , developmental delay Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 NFE2L2 GOF increased expression of stress response genes Combined immunodeficiencies with associated or syndromic features mmunodeficiency, developmental delay, and hypohomocysteinemia, 617744 Recurrent respiratory and skin infection Growth retardation Developmental delay, borderline ID White matter cerebral lesions
Green NFE2L2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744