COVID-19 research

Gene: CFTR

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.

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

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