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STRs in panel
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COVID-19 research

Gene: NFKB2

Green List (high evidence)

NFKB2 (nuclear factor kappa B subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000077150
EnsemblGeneIds (GRCh37): ENSG00000077150
OMIM: 164012, Gene2Phenotype
NFKB2 is in 7 panels

7 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 6 variants identified in at least 8 unrelated cases.
Created: 2 May 2018, 1:53 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): NFKB2 .PanelApp HGNC gene symbol check: NFKB2 . IUIS Disease: NFKB2 deficiency . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent sinopulmonary infections, alopecia and endorinopathies. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
Created: 2 Jul 2018, 10:35 a.m.
This gene was present in the original PanelApp PID panel dataset (review in April 2018) rated as Amber. The gene is present in the external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 10:29 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: NFKB2, PanelApp HGNC gene symbol check: NFKB2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Hypogammaglobulinemias / Common variable immunodeficiency disorders (CVID); Predominantly antibody disorders / Unclassified antibody deficiency / Unclassified antibody deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: NFKB2, GRID_Gene_Symbol: NFKB2, GRID_Transcript_ENS_Community submitted: ENST00000369966, GRID_Transcript_RefSeq: NM_001288724.1, GRID_Transcript_ENS_used_on_Production: ENST00000369966
Created: 17 Apr 2018, 12:12 p.m.

Olivia Niblock (Genomics England Curator)

Comment on list classification: After literature review, there appears to be a strong link between variant in this gene and Common Variable Immunodeficiency as well as DAVID syndrome, a symptom of which includes hypo-gammagloulinaemia.
Created: 15 Aug 2017, 12:39 p.m.

Owen Siggs (Flinders University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sophie Hambleton (Newcastle University)

Green List (high evidence)

OMIM:615577
Created: 6 Jan 2017, 3:59 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypogammaglobuliaemia; immune dysregulation; central adrenal insufficiency

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Recurrent sinopulmonary infections, alopecia and endorinopathies
  • Immunodeficiency, common variable, 10 615577
  • Unclassified antibody deficiency
  • Hypogammaglobuliaemia
  • central adrenal insufficiency
  • immune dysregulation
  • Common variable immunodeficiency disorders (CVID)
  • Predominantly Antibody Deficiencies
OMIM
164012
Clinvar variants
Variants in NFKB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: NFKB2 was added gene: NFKB2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFKB2 were set to 25237204; 24140114; 25524009; 24888602 Phenotypes for gene: NFKB2 were set to Recurrent sinopulmonary infections, alopecia and endorinopathies; Immunodeficiency, common variable, 10 615577; Unclassified antibody deficiency; Hypogammaglobuliaemia; central adrenal insufficiency; immune dysregulation; Common variable immunodeficiency disorders (CVID); Predominantly Antibody Deficiencies