Respiratory ciliopathies including non-CF bronchiectasis
Gene: NFKB1From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene GreenCreated: 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 panelCreated: 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 ratingCreated: 17 Jan 2019, 10:41 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 ReviewCreated: 11 Jan 2019, 4:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB1 were set to
Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable 12, 616576; Recurrent sinopulmonary infections to Immunodeficiency, common variable, 12, 616576; Recurrent sinopulmonary infections
Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable, 12; Recurrent sinopulmonary infections to Immunodeficiency, common variable 12, 616576; Recurrent sinopulmonary infections
Phenotypes for gene: NFKB1 were changed from to Immunodeficiency, common variable, 12; Recurrent sinopulmonary infections
Gene: nfkb1 has been classified as Green List (High Evidence).
Source NHS GMS was added to NFKB1. Rating Changed from No List (delete) to Red List (low evidence)
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