NFE2L2

nuclear factor, erythroid 2 like 2
OMIM: 600492
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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