Primary ciliary disorders
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
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
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- 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
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CFTR was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory