Respiratory ciliopathies including non-CF bronchiectasis
Gene: RSPH9
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: RSPH9; 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, 12, 612650
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Again this is a gene associated with primary ciliary dyskinesia, and we decided as a group internally to keep this panel seperate from the primary ciliary dyskinesia gene panel.Created: 10 May 2016, 10:09 a.m.
Comment when marking as ready: Reviewed with team while reviewing non-CF BronchiectasisCreated: 10 May 2016, 8:43 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 12
Publications
Variants in this GENE are reported as part of current diagnostic practice
Included in PCD panel- will need included in Non CF bronchiectasis when unsuspected PCD is cause of bronchiectasisCreated: 17 Oct 2015, 7:13 p.m.
Mode of inheritance for gene RSPH9 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bronchiectasis; Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
Source Expert Review Green was added to RSPH9. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RSPH9 was added gene: RSPH9 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: RSPH9 was set to