Respiratory ciliopathies including non-CF bronchiectasis

Gene: NFKB2

Green List (high evidence)

NFKB2 (nuclear factor kappa B subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000077150
EnsemblGeneIds (GRCh37): ENSG00000077150
OMIM: 164012, Gene2Phenotype
NFKB2 is in 6 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, 10:57 a.m.
Comment on list classification: New gene added by external reviewer. To be reviewed in GMS Respiratory specialist test group 18th Jan 2018
Created: 17 Jan 2019, 10:52 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, 10:51 a.m.

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, 4:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency, common variable, 10, 615577
  • Bronchiectasis
OMIM
164012
Clinvar variants
Variants in NFKB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NFKB2 were changed from Immunodeficiency, common variable, 10, 615577 to Immunodeficiency, common variable, 10, 615577; Bronchiectasis

17 Jan 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NFKB2 were set to

17 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: nfkb2 has been classified as Green List (High Evidence).

17 Jan 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10, 615577

17 Jan 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NFKB2. 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: NFKB2 was added gene: NFKB2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert Review Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: NFKB2 was set to GREEN gene: NFKB2 was marked as current diagnostic