Respiratory ciliopathies including non-CF bronchiectasis
Gene: CFTREnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 16 panels
6 reviews
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Should definitely exist on this panel. Gene may not cause a primary ciliopathy, but for the purposes of practical diagnostic testing for non-specific bronchiectasis and atypical CF-related phenotypes it needs to be included on this panel (as the only relevant panel it can exist on in the current NHSE Test Directory for the Repsiratory specialism)Created: 2 Feb 2021, 3:39 p.m. | Last Modified: 2 Feb 2021, 3:39 p.m.
Panel Version: 1.43
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
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: CFTR; Suggested initial gene rating: Green; Evidence for inclusion: CFTR rare mutations likely relevant (?detection of e.g. structural variants captured on NGS); Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
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.
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:32 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
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
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
- NHS GMS
- Phenotypes
-
- Cystic Fibrosis
- Ciliopathies
- Congenital bilateral absence of vas deferens, 277180
- Sweat chloride elevation without CF
- {Hypertrypsinemia, neonatal}
- Cystic fibrosis, 219700
- {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400
- Bronchiectasis
- {Pancreatitis, idiopathic}, 167800
- OMIM
- 602421
- Clinvar variants
- Variants in CFTR
- Penetrance
- None
- 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
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene CFTR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cystic Fibrosis; Ciliopathies; Congenital bilateral absence of vas deferens, 277180; Sweat chloride elevation without CF; Cystic fibrosis, 219700; {Hypertrypsinemia, neonatal}; {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400; Bronchiectasis; {Pancreatitis, idiopathic}, 167800 for gene: CFTR
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to CFTR. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CFTR was added gene: CFTR was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: CFTR was set to