This Panel is marked as Internal
Gene therapy clinical trials
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
1 review
Ellen McDonagh (Genomics England Curator)
Drug: pGM169/GL67A - trials https://ClinicalTrials.gov/show/NCT01621867, https://ClinicalTrials.gov/show/NCT00789867.Created: 2 May 2018, 3:12 p.m.
Phenotypes
Cystic Fibrosis
Details
- Sources
-
- Expert Review Green
- ClinicalTrials.gov
- Phenotypes
-
- Cystic Fibrosis
- OMIM
- 602421
- Clinvar variants
- Variants in CFTR
- Penetrance
- None
- Panels with this gene
-
- Familial pulmonary fibrosis
- COVID-19 research
- Cystic fibrosis diagnostic test
- Non-CF bronchiectasis
- Additional findings reproductive carrier status
- Respiratory ciliopathies including non-CF bronchiectasis
- Rare multisystem ciliopathy disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cholestasis
- Additional findings health related
- Neonatal cholestasis
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Pancreatitis
- Fetal anomalies
History Filter Activity
12 May 2018, Gel status: 4
Set penetrance
Ellen McDonagh (Genomics England Curator)Phenotypes for gene CFTR were set to Cystic Fibrosis
2 May 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CFTR was added to Gene therapy clinical trials panel. Sources: ClinicalTrials.gov,Expert Review Green
2 May 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)CFTR was created by Ellen McDonagh