Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NFE2L2The 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
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
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
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
Tag for-review was removed from gene: NFE2L2.
Source Expert Review Green was added to NFE2L2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: nfe2l2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: NFE2L2.
Gene: nfe2l2 has been classified as Green List (High Evidence).
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
Publications for gene NFE2L2 were updated from 32048120; 32086639 to 32086639; 32048120; 29018201
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