Respiratory ciliopathies including non-CF bronchiectasis
Gene: SCNN1B
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SCNN1B; Suggested initial gene rating: Green; Evidence for inclusion: OMIM bronchiectasis gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Comment on mode of inheritance: Compound heterozygous and heterozygous cases reported in OMIM.Created: 3 May 2016, 3:11 p.m.
Comment on list classification: Currently a green gene, with a green expert review, and more than 3 cases reported in OMIM.Created: 3 May 2016, 3:11 p.m.
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:33 p.m.
Phenotypes
ciliopathies
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Sodium channelopathy associated gene- highly important to screen for in those with ? CF but negative CFTR analysis yet high Na+ in sweat testCreated: 17 Oct 2015, 7:02 p.m.
Publications
Mode of inheritance for gene SCNN1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Ciliopathies; Non-Classic Cystic Fibrosis-Like Syndrome; Pseudohypoaldosteronism, type I, 264350; Liddle syndrome, 177200; Bronchiectasis with or without elevated sweat chloride 1, 211400; Bronchiectasis for gene: SCNN1B
Source Expert Review Green was added to SCNN1B. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SCNN1B was added gene: SCNN1B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: SCNN1B was set to