Non-CF bronchiectasis
Gene: SCNN1BComment 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.
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
Publications for SCNN1B were set to PMID: 23837941
Phenotypes for SCNN1B were set to Non-Classic Cystic Fibrosis-Like Syndrome; Liddle syndrome, 177200Pseudohypoaldosteronism, type I, 264350;Bronchiectasis with or without elevated sweat chloride 1, 211400; Bronchiectasis
This gene has been classified as Green List (High Evidence).
Publications for SCNN1B were set to PMID: 23837941
Mode of inheritance for SCNN1B was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SCNN1B was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory
SCNN1B was added to Non-CF bronchiectasispanel. Sources: Radboud University Medical Center, Nijmegen
SCNN1B was added to Non-CF bronchiectasispanel. Sources: Illumina TruGenome Clinical Sequencing Services