Familial pulmonary fibrosis
Gene: CFTR
CFTR (cystic fibrosis transmembrane conductance regulator)
EnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 16 panels
2 reviews
Philip Molyneaux (Imperial College)
CF not fibrosis
Created: 26 Apr 2017, 9:50 a.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Chronic infection and emphysema rather than fibrosis -incorrect phenotypeCreated: 9 Feb 2017, 10:29 a.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Cystic fibrosis
- OMIM
- 602421
- Clinvar variants
- Variants in CFTR
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial pulmonary fibrosis
- COVID-19 research
- Cystic fibrosis diagnostic test
- Non-CF bronchiectasis
- Additional findings reproductive carrier status
- Respiratory ciliopathies including non-CF bronchiectasis
- Additional findings health related
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Pancreatitis
- Rare multisystem ciliopathy disorders
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
27 Apr 2017, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CFTR were set to Cystic fibrosis
9 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CFTR was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CFTR was created by ellenmcdonagh