Genomics England
GMS Panels
Panels
Genes and Entities

NFE2L2

nuclear factor, erythroid 2 like 2
OMIM: 600492
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
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