Respiratory ciliopathies including non-CF bronchiectasis
Gene: SCNN1A
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: SCNN1A; 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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Mode of inheritance for gene SCNN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Ciliopathies; Bronchiectasis with or without elevated sweat chloride 2, 613021; Bronchiectasis; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1A
Source Expert Review Green was added to SCNN1A. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SCNN1A was added gene: SCNN1A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: SCNN1A was set to