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STRs in panel
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COVID-19 research

Gene: CFTR

Green List (high evidence)

CFTR (cystic fibrosis transmembrane conductance regulator)
EnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 16 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

In view that this gene is Green on non-CF bronchiectasis panel, although there is a Green external review it was decided to keep this gene Amber on this panel due recruitment category
Created: 6 Jul 2018, 4:43 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CFTR .PanelApp HGNC gene symbol check: CFTR . IUIS Disease: Cystic fibrosis . IUIS Inheritance: AR .T cells: Variable, .B cells: N/A, .IUIS Other affected cells: M only. IUIS Associated features: Respiratory infections, pancreatic insufficiency, elevated sweat chloride. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of Motility
Created: 6 Jul 2018, 12:14 p.m.

Helen Brittain (Genomics England Curator)

I don't know

Clear evidence of causation. I see the relevance in terms of the bronchiectasis phenotype, however I am not clear on the relevance to the majority of those recruited under PID, as CF often presents independently of immunological anomalies. This gene is on the bronchiectasis panel, therefore if participants with PID have bronchiectasis (and this is captured in their HPO terms) they will get this gene via the non-CF bronchiectasis panel being concurrently applied.
Therefore I would rate this as amber for the PID panel, but would be happy to review this in the light of further comments or information.
Created: 6 Jul 2018, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystic fibrosis 219700

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Suggest to include this gene in the PID panel because CF and immunodeficiency are both part of the differential diagnosis for bronchiectasis (and phagocyte dysfunction may contribute to the phenotype)
Created: 29 Jun 2018, 4:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
bronchiectasis; cystic fibrosis

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to CFTR. Added phenotypes Congenital defects of phagocyte number or function; Respiratory infections, pancreatic insufficiency, elevated sweat chloride; Cystic fibrosis, 219700 for gene: CFTR Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CFTR was added gene: CFTR was added to Viral susceptibility. Sources: IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFTR were set to 32086639; 32048120 Phenotypes for gene: CFTR were set to Congenital defects of phagocyte number or function; Respiratory infections, pancreatic insufficiency, elevated sweat chloride; Cystic fibrosis, 219700