Additional findings health related
Gene: CFTREnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 16 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: A seperate panel will be used for analysis of this gene.Created: 14 Oct 2019, 4:11 p.m. | Last Modified: 14 Oct 2019, 4:11 p.m.
Panel Version: 0.76
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Clinically relevant transcript NM_000492.3Created: 21 May 2018, 3:53 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review
- Expert Review Removed
- Phenotypes
-
- ENST00000003084.10
- Carrier status
- Cystic Fibrosis
- Adult-only
- Transcripts
-
- ENST00000003084.10
- NM_000492.3
- Tags
- OMIM
- 602421
- Clinvar variants
- Variants in CFTR
- Penetrance
- None
- Panels with this gene
-
- Additional findings health related
- Neonatal cholestasis
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
- Pancreatitis
- Rare multisystem ciliopathy disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cholestasis
- Familial pulmonary fibrosis
- Skeletal dysplasia
- COVID-19 research
- Cystic fibrosis diagnostic test
- Non-CF bronchiectasis
- Additional findings reproductive carrier status
- Respiratory ciliopathies including non-CF bronchiectasis
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CFTR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CFTR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: CFTR.
Set transcript
Catherine Snow (Genomics England)Transcript for gene CFTR was changed from NM_000492.3 to ENST00000003084.10; NM_000492.3
Removed Source, Added New Source, Set transcript
Catherine Snow (Genomics England)Source Carrier Status was removed from CFTR. Source Expert Review was added to CFTR. Transcript for gene CFTR was changed from None to NM_000492.3
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: cftr has been removed from the panel.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: CFTR were changed from NST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only to ENST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: CFTR were changed from NM_000492.3; Carrier status; Cystic Fibrosis; Adult-only to NST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: cftr has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: cftr has been removed from the panel.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CFTR were set to NM_000492.3; Carrier status; Cystic Fibrosis; Adult-only
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CFTR were set to Carrier status; Cystic Fibrosis; Adult-only
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for CFTR was changed to None
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CFTR were set to Carrier status; Cystic Fibrosis
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CFTR was added to Genomics England Secondary Findings panel. Sources: Carrier Status
Created
Ellen McDonagh (Genomics England Curator)CFTR was created by Ellen McDonagh