1. Panels
  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. CCNO
STRs in panel
Prev Next
Regions in panel
Prev Next

Respiratory ciliopathies including non-CF bronchiectasis

Gene: CCNO

Green List (high evidence)
CCNO (cyclin O)
EnsemblGeneIds (GRCh38): ENSG00000152669
EnsemblGeneIds (GRCh37): ENSG00000152669
OMIM: 607752, Gene2Phenotype
CCNO is in 7 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 given
Created: 5 Dec 2018, 1:54 p.m.
Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.2

Caroline Wright (Genomics England Curator)

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.
Created: 10 May 2016, 9:21 a.m.

Panel version: Imported from Primary ciliary disorders panel version 0.16

Ian Berry (Leeds Genetics Laboratory)

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

Created: 8 Dec 2015, 5:33 p.m.

Panel version: Imported from Primary ciliary disorders panel version 0

Hannah Mitchison (UCL and GOSH)

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

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

Created: 8 Dec 2015, 4:25 p.m.

Panel version: Imported from Primary ciliary disorders panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 29
OMIM
607752
Clinvar variants
Variants in CCNO
Penetrance
None
Panels with this gene

History Filter Activity

17 Jan 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CCNO was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 29 for gene: CCNO

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CCNO. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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