Non-CF bronchiectasis
Gene: CFTREnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 16 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Added 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.
Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 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
- Tags
- OMIM
- 602421
- Clinvar variants
- Variants in CFTR
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- Familial pulmonary fibrosis
- Skeletal dysplasia
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cystic fibrosis diagnostic test
- Non-CF bronchiectasis
- Additional findings reproductive carrier status
- Respiratory ciliopathies including non-CF bronchiectasis
- Additional findings health related
- Neonatal cholestasis
- Thoracic dystrophies
- Primary ciliary disorders
- Pancreatitis
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CFTR were set to
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CFTR was added to Non-CF bronchiectasispanel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)CFTR was added to Non-CF bronchiectasispanel. Sources: Eligibility Statements for GeL
Added New Source
GEL ()CFTR was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()CFTR was added to Non-CF bronchiectasispanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()CFTR was added to Non-CF bronchiectasispanel. Sources: Radboud University Medical Center, Nijmegen