Non-CF bronchiectasis
Gene: CFTRAdded the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:27 a.m.
Comment on list classification: Discussed internally as a group, and decided to keep this gene as green, as variants may have been missed in prior genetic testing.Created: 10 May 2016, 7:43 a.m.
Expected to be excluded but referring clinicians may not have already requested CFTR assessment- Important to stress late diagnosed CF is seen in "non CF bronchiectasis" even at aged 70+Created: 17 Oct 2015, 7:01 p.m.
By definition non CF bronchiectasis will exclude CF gene mutationsCreated: 17 Oct 2015, 6:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for CFTR were set to Cystic fibrosis, 219700;Congenital bilateral absence of vas deferens, 277180;Sweat chloride elevation without CF;{Pancreatitis, idiopathic}, 167800;{Hypertrypsinemia, neonatal};{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400; Cystic Fibrosis; Bronchiectasis
Publications for CFTR were set to
This gene has been classified as Green List (High Evidence).
CFTR was added to Non-CF bronchiectasispanel. Sources: Eligibility statement prior genetic testing
CFTR was added to Non-CF bronchiectasispanel. Sources: Eligibility Statements for GeL
CFTR was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory
CFTR was added to Non-CF bronchiectasispanel. Sources: Illumina TruGenome Clinical Sequencing Services
CFTR was added to Non-CF bronchiectasispanel. Sources: Radboud University Medical Center, Nijmegen