COVID-19 research
Gene: NFE2L2
4 cases described all resulted from de novo activating mutationsCreated: 1 May 2020, 11:15 a.m. | Last Modified: 1 May 2020, 11:15 a.m.
Panel Version: 0.171
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
growth retardation; developmental delay; leukodystrophy; recurrent infections; hypogammaglobulinaemia; hypohomocysteinaemia; increased G-6-P-dehydrogenase activity
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Publications
Source Expert Review Green was added to NFE2L2. Added phenotypes Recurrent respiratory and skin infections, growth retardation, , developmental delay; increased expression of stress response genes; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; white matter cerebral lesions, increased level of homocysteine; Combined immunodeficiencies with associated or syndromic features; NFE2L2 GOF for gene: NFE2L2 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: NFE2L2 was added gene: NFE2L2 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFE2L2 were set to 32086639; 32048120; 29018201 Phenotypes for gene: NFE2L2 were set to Recurrent respiratory and skin infections, growth retardation, , developmental delay; increased expression of stress response genes; Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744; white matter cerebral lesions, increased level of homocysteine; Combined immunodeficiencies with associated or syndromic features; NFE2L2 GOF