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Primary 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 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:44 p.m. | Last Modified: 20 Oct 2020, 3:44 p.m.
Panel Version: 2.360

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Green based on exper review.
Created: 15 Apr 2020, 3:34 p.m. | Last Modified: 15 Apr 2020, 3:34 p.m.
Panel Version: 2.77

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported.
Created: 11 Apr 2020, 11:31 a.m. | Last Modified: 11 Apr 2020, 11:31 a.m.
Panel Version: 2.51

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

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
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
OMIM
600492
Clinvar variants
Variants in NFE2L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: NFE2L2.

4 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to NFE2L2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nfe2l2 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: NFE2L2.

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

15 Apr 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NFE2L2 were changed from 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 to 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

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene NFE2L2 were updated from 32048120; 32086639 to 32086639; 32048120; 29018201

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: NFE2L2 was added gene: NFE2L2 was added to Primary immunodeficiency. 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 32048120; 32086639 Phenotypes for gene: NFE2L2 were set to 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