Primary ciliary disorders

Gene: CCNO

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.

Green List (high evidence)

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

Green List (high evidence)

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

• PMID:24747639

Variants in this GENE are reported as part of current diagnostic practice