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This Panel is marked as Retired

A- or hypo-gammaglobulinaemia
Gene: NFKB2

NFKB2 (nuclear factor kappa B subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000077150
EnsemblGeneIds (GRCh37): ENSG00000077150
OMIM: 164012, Gene2Phenotype
NFKB2 is in 5 panels

3 reviews

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.

Created: 15 Aug 2017, 12:39 p.m.

Panel version: 1.14

Owen Siggs (Flinders University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 16 May 2017, 8:10 a.m.

Panel version: 1.10

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

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

Panel version: 1.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber

Phenotypes

hypogammaglobuliaemia
immune dysregulation
central adrenal insufficiency

OMIM

164012

Clinvar variants

Variants in NFKB2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Jan 2017, Gel status: 0

Created

Sophie Hambleton (Newcastle University)

NFKB2 was created by shamblet