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  3. NFKB2
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Ciliary Dyskinesia

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Not a PCD, but can have overlapping presenting features.
Created: 25 May 2020, 7:10 a.m. | Last Modified: 25 May 2020, 7:10 a.m.
Panel Version: 0.89
Created: 25 May 2020, 7:10 a.m.
Last Modified: 25 May 2020, 7:10 a.m.
Panel version: 0.89

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 30941118 - reports 11 unrelated families (15 patients), four families carry the recurring nonsense p.Arg853* mutation. Many patients report recurrent upper and lower respiratory infections (>80%), less commonly bronchiectasis (57%)

Summary: really doesnt seem like a PCD gene but some features are shared.
Sources: Expert list
Created: 25 May 2020, 4:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Immunodeficiency, common variable, 10 615577

Publications

Created: 25 May 2020, 4:43 a.m.

Panel version: 0.76

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency, common variable, 10 615577
OMIM
164012
Clinvar variants
Variants in NFKB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfkb2 has been classified as Amber List (Moderate Evidence).

25 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nfkb2 has been classified as Amber List (Moderate Evidence).

25 May 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: NFKB2 was added gene: NFKB2 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFKB2 were set to PMID: 30941118 Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 615577 Review for gene: NFKB2 was set to AMBER