Thoracic dystrophies
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
Melita Irving (Guy's and St Thomas' NHS Trust)
Hannah Mitchison (UCL and GOSH)
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 602421
- Clinvar variants
- Variants in CFTR
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- Familial pulmonary fibrosis
- COVID-19 research
- Skeletal dysplasia
- Cystic fibrosis diagnostic test
- Non-CF bronchiectasis
- Additional findings reproductive carrier status
- Respiratory ciliopathies including non-CF bronchiectasis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Additional findings health related
- Neonatal cholestasis
- Thoracic dystrophies
- Primary ciliary disorders
- Pancreatitis
- Rare multisystem ciliopathy disorders
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)CFTR was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory