A- or hypo-gammaglobulinaemia

Gene: NFKB2

Amber List (moderate evidence)

NFKB2 (nuclear factor kappa B subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000077150
EnsemblGeneIds (GRCh37): ENSG00000077150
OMIM: 164012, Gene2Phenotype
NFKB2 is in 6 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.

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, 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

6 Jan 2017, Gel status: 0

Added New Source

Sophie Hambleton (Newcastle University)

NFKB2 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Expert Review