Respiratory ciliopathies including non-CF bronchiectasis
Gene: SCNN1G
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: SCNN1G; 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 list classification: Promoted from amber due to expert review and OMIM review.Created: 10 May 2016, 8:03 a.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, 7:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene SCNN1G was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Bronchiectasis with or without elevated sweat chloride 3, 613071; Ciliopathies; Bronchiectasis; Liddle syndrome, 177200; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1G
Source Expert Review Green was added to SCNN1G. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SCNN1G was added gene: SCNN1G was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: SCNN1G was set to