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  3. NFE2L2
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: NFE2L2

Green List (high evidence)
NFE2L2 (nuclear factor, erythroid 2 like 2)
EnsemblGeneIds (GRCh38): ENSG00000116044
EnsemblGeneIds (GRCh37): ENSG00000116044
OMIM: 600492, Gene2Phenotype
NFE2L2 is in 3 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported.
Created: 11 Apr 2020, 4:29 a.m. | Last Modified: 11 Apr 2020, 4:29 a.m.
Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744; Recurrent respiratory and skin infection; Growth retardation; Developmental delay, borderline ID; White matter cerebral lesions

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Apr 2020, 4:29 a.m.
Last Modified: 11 Apr 2020, 4:29 a.m.
Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM#617744
  • Growth retardation
  • White matter cerebral lesions
  • Developmental delay, borderline ID
  • Recurrent respiratory and skin infection
OMIM
600492
Clinvar variants
Variants in NFE2L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: NFE2L2 was added gene: NFE2L2 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFE2L2 were set to 29018201 Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM#617744; Growth retardation; White matter cerebral lesions; Developmental delay, borderline ID; Recurrent respiratory and skin infection