Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CFTREnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 16 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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 categoryCreated: 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 MotilityCreated: 6 Jul 2018, 12:14 p.m.
Helen Brittain (Genomics England Curator)
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)
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
-
- 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
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Pancreatitis
- Rare multisystem ciliopathy disorders
History Filter Activity
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
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.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: cftr has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: CFTR was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Entity classified by Genomics England curator
Helen Brittain (Genomics England Curator)Gene: cftr has been classified as Amber List (Moderate Evidence).
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
Added New Source
Louise Daugherty (Genomics England Curator)CFTR was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
Created
Louise Daugherty (Genomics England Curator)CFTR was created by Louise Daugherty