Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: CFTR

Amber List (moderate evidence)

CFTR (cystic fibrosis transmembrane conductance regulator)
EnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 17 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Amber
  • IUIS Classification February 2018
Phenotypes
  • Respiratory infections, pancreatic insufficiency, elevated sweat chloride
  • Cystic fibrosis, 219700
  • Congenital defects of phagocyte number or function
OMIM
602421
Clinvar variants
Variants in CFTR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to CFTR. Added phenotypes Respiratory infections, pancreatic insufficiency, elevated sweat chloride; Congenital defects of phagocyte number or function for gene: CFTR Publications for gene CFTR were updated from to 32048120; 32086639

12 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

6 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cftr has been classified as Amber List (Moderate Evidence).

6 Jul 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CFTR was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CFTR were set to Cystic fibrosis, 219700; Respiratory infections, pancreatic insufficiency, elevated sweat chloride; Congenital defects of phagocyte number or function

6 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: cftr has been classified as Amber List (Moderate Evidence).

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CFTR were set to Respiratory infections, pancreatic insufficiency, elevated sweat chloride, Congenital defects of phagocyte number or function

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CFTR was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CFTR was created by Louise Daugherty