Non-CF bronchiectasis
Gene: RSPH4AComment 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.
Important to exclude known PCD mutations in those with suspected idiopathic bronchiectasisCreated: 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
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for RSPH4A was changed to Unknown
Phenotypes for RSPH4A were set to Bronchiectasis; 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 for RSPH4A were set to PMID: 26073779
This gene has been classified as Red List (Low Evidence).
RSPH4A was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory