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  3. NFE2L2
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Combined Immunodeficiency

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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported.
Sources: Expert list
Created: 4 Apr 2020, 3:19 a.m.

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

Created: 4 Apr 2020, 3:19 a.m.

Panel version: 0.82

Details

Mode of Inheritance
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
OMIM
600492
Clinvar variants
Variants in NFE2L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfe2l2 has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfe2l2 has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NFE2L2 was added gene: NFE2L2 was added to Combined Immunodeficiency. Sources: 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; Recurrent respiratory and skin infection; Growth retardation; Developmental delay, borderline ID; White matter cerebral lesions Review for gene: NFE2L2 was set to GREEN