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  2. Ciliary Dyskinesia
  3. NFKB1
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Ciliary Dyskinesia

Gene: NFKB1

Amber List (moderate evidence)
NFKB1 (nuclear factor kappa B subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000109320
EnsemblGeneIds (GRCh37): ENSG00000109320
OMIM: 164011, Gene2Phenotype
NFKB1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Not a PCD, but overlapping clinical features.
Created: 25 May 2020, 7:11 a.m. | Last Modified: 25 May 2020, 7:11 a.m.
Panel Version: 0.90
Created: 25 May 2020, 7:11 a.m.
Last Modified: 25 May 2020, 7:11 a.m.
Panel version: 0.90

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 32278790 - review of >150 patients with heterozygous mutations found ~25% had bronchiectasis, and 83% had upper respiratory infections. Incomplete penetrance (70%) with age dependent severity well reported.

OMIM describes haploinsufficiency

Summary: really doesnt seem like a PCD gene but some features are shared.
Sources: Expert list
Created: 25 May 2020, 4:20 a.m.

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

Phenotypes
Immunodeficiency, common variable, 12 616576

Publications

Created: 25 May 2020, 4:20 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, 12 616576
OMIM
164011
Clinvar variants
Variants in NFKB1
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: nfkb1 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: nfkb1 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: NFKB1 was added gene: NFKB1 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFKB1 were set to PMID: 32278790 Phenotypes for gene: NFKB1 were set to Immunodeficiency, common variable, 12 616576 Review for gene: NFKB1 was set to AMBER