Respiratory ciliopathies including non-CF bronchiectasis
Gene: CCNO
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: CCNO; 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.
Comment on list classification: REF 24747639: Using a whole-exome sequencing strategy, we identified recessive CCNO (encoding cyclin O) mutations in 16 individuals suffering from chronic destructive lung disease due to insufficient airway clearance.Created: 10 May 2016, 9:21 a.m.
See Wallmeier et al. Nat Genet. 2014 Jun;46(6):646-51.Created: 8 Dec 2015, 5:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 29, 615872
Variants in this GENE are reported as part of current diagnostic practice
UK mutations reported. RGMC Reduced Generation of Multiple Motile Cilia.Created: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 29;
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene CCNO was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 29 for gene: CCNO
Source Expert Review Green was added to CCNO. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CCNO was added gene: CCNO was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: CCNO was set to