Rare multisystem ciliopathy 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
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Bronchiectasis not included on this gene panelCreated: 23 Jan 2017, 4:09 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Ciliopathies
- OMIM
- 602421
- Clinvar variants
- Variants in CFTR
- Penetrance
- Complete
- Panels with this gene
-
- Familial pulmonary fibrosis
- COVID-19 research
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cystic fibrosis diagnostic test
- Skeletal dysplasia
- 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
- Cholestasis
- Rare multisystem ciliopathy disorders
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
23 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CFTR was created by ellenmcdonagh
25 Nov 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CFTR was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory