Respiratory ciliopathies including non-CF bronchiectasisGene: NFKB2
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.
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
Phenotypes for gene: NFKB2 were changed from Immunodeficiency, common variable, 10, 615577 to Immunodeficiency, common variable, 10, 615577; Bronchiectasis
Publications for gene: NFKB2 were set to
Gene: nfkb2 has been classified as Green List (High Evidence).
Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10, 615577
Source NHS GMS was added to NFKB2. Rating Changed from No List (delete) to Red List (low evidence)
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