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Additional findings reproductive carrier status
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Carrier status
- Cystic Fibrosis
- Adult-only
- Transcripts
-
- ENST00000003084.10
- OMIM
- 602421
- Clinvar variants
- Variants in CFTR
- Penetrance
- None
- 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
- Neonatal cholestasis
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Pancreatitis
- Rare multisystem ciliopathy disorders
History Filter Activity
19 Nov 2019, Gel status: 3
Set Phenotypes, Set transcript
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: CFTR were changed from ENST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only to Carrier status; Cystic Fibrosis; Adult-only Transcript for gene CFTR was changed from None to ENST00000003084.10
14 Oct 2019, Gel status: 3
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: cftr has been classified as Green List (High Evidence).
14 Oct 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CFTR was added gene: CFTR was added to Additional findings reproductive carrier status. Sources: Expert list Mode of inheritance for gene: CFTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFTR were set to ENST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only