NFE2L2

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

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red NFE2L2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia , MIM#617744
Green NFE2L2 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744 Recurrent respiratory and skin infection Growth retardation Developmental delay, borderline ID White matter cerebral lesions Tags treatable
Green NFE2L2 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744 Recurrent respiratory and skin infection Growth retardation Developmental delay, borderline ID White matter cerebral lesions
Green NFE2L2 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591 Disorders of glutathione metabolism
Green NFE2L2 in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591 Disorders of glutathione metabolism