Non-CF bronchiectasis

Gene: RSPH4A

Comment on mode of inheritance: OMIM and the gene on the primary ciliary dyskinesia panel suggests a biallelic mode of inheritance.

Created: 10 May 2016, 9:59 a.m.

Comment on list classification: Is a primary ciliary dyskinesia gene (a green gene on the primary ciliary dyskinesia gene panel) and for this panel as a group we decided to not include genes that were also on the primary ciliary dyskinesia gene panel. Should remain red.

Created: 10 May 2016, 9:55 a.m.

Green List (high evidence)

Important to exclude known PCD mutations in those with suspected idiopathic bronchiectasis

Created: 17 Oct 2015, 7:20 p.m.

Important to include in nonCF bronchiectasis panel given unsuspected PCD may be a cause of otherwise "idiopathic bronchiectasis"

Created: 17 Oct 2015, 7:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Reduced exercise tolerance; chronic wet cough; recurrent respiratory infections; nasal symptoms; rhinorrhea; rhinitis; nasal blockage; sinusitis; glue ear; otitis media; hearing problems; deafness; Bronchiectasis; low weight; short stature

Publications

• PMID: 26073779