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CCNO

Synonyms
CCNU, CILD29, UDG2
External resources
Summary
This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
14
Likely pathogenic
3
VUS
1,206
Likely benign
690
Benign
0

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on CCNO gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
37.5%
Abnormality of the nervous system
31.3%
Abnormality of the immune system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the respiratory system
25%
Abnormality of blood and blood-forming tissues
18.8%
Abnormality of the integument
18.8%
Growth abnormality
18.8%
Abnormal cellular phenotype
12.5%
Abnormality of limbs
12.5%
Abnormality of the cardiovascular system
12.5%
Abnormality of the ear
12.5%
Abnormality of the eye
12.5%
Neoplasm
12.5%
Abnormality of prenatal development or birth
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the genitourinary system
6.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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