Respiratory ciliopathies including non-CF bronchiectasis
Gene: RSPH4A
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: RSPH4A; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 11, 612649
Variants in this GENE are reported as part of current diagnostic practice
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.
Comment when marking as ready: Reviewed with team while reviewing non-CF BronchiectasisCreated: 10 May 2016, 8:42 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 11
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Mode of inheritance for gene RSPH4A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes sinusitis; chronic wet cough; nasal symptoms; rhinorrhea; recurrent respiratory infections; Primary Ciliary Dyskinesia; rhinitis; Reduced exercise tolerance; otitis media; nasal blockage; Bronchiectasis; short stature; deafness; glue ear; low weight; hearing problems; Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
Source Expert Review Green was added to RSPH4A. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RSPH4A was added gene: RSPH4A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: RSPH4A was set to