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  3. NFKB1
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: NFKB1

Green List (high evidence)
NFKB1 (nuclear factor kappa B subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000109320
EnsemblGeneIds (GRCh37): ENSG00000109320
OMIM: 164011, Gene2Phenotype
NFKB1 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene Green
Created: 21 Jan 2019, 5:28 p.m.
Comment on publications: Added publication suggested by external reviewer to support support gene-disease association.
Created: 17 Jan 2019, 10:56 a.m.
Comment on phenotypes: Added phenotypes from OMIM that indicate relevance to inclusion on the Respiratory ciliopathies including non-CF bronchiectasis panel
Created: 17 Jan 2019, 10:44 a.m.
Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018. Confirm phenotype, MOI and rating
Created: 17 Jan 2019, 10:41 a.m.
Created: 17 Jan 2019, 10:41 a.m.

Panel version: 0.138

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

NFKB1 & NFKB2 are the most common causes of primary immunodeficiency in the BRIDGE study. Phenotypes can be highly variable, even within families, and include bronchiectasis (see e.g. PMID 26279205). Expert review by Dr Sinisa Savic (Clinical Immunologist) and Dr Daniel Peckham (Respiratory Physician), bronchiectasis expert team from Leeds.
Sources: Expert Review
Created: 11 Jan 2019, 4:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 11 Jan 2019, 4:49 p.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency, common variable, 12, 616576
  • Recurrent sinopulmonary infections
OMIM
164011
Clinvar variants
Variants in NFKB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NFKB1 were set to

17 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable 12, 616576; Recurrent sinopulmonary infections to Immunodeficiency, common variable, 12, 616576; Recurrent sinopulmonary infections

17 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable, 12; Recurrent sinopulmonary infections to Immunodeficiency, common variable 12, 616576; Recurrent sinopulmonary infections

17 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NFKB1 were changed from to Immunodeficiency, common variable, 12; Recurrent sinopulmonary infections

17 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: nfkb1 has been classified as Green List (High Evidence).

17 Jan 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NFKB1. Rating Changed from No List (delete) to Red List (low evidence)

11 Jan 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance

Ian Berry (Leeds Genetics Laboratory)

gene: NFKB1 was added gene: NFKB1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: NFKB1 was set to GREEN