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CCDC65

Synonyms
CFAP250, DRC2, FAP250, NYD-SP28
External resources
Summary
This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia.

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
0
VUS
9,771
Likely benign
724
Benign
129

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on CCDC65 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.7%
Abnormality of the ear
28.6%
Abnormality of the genitourinary system
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of head or neck
21.4%
Abnormality of the cardiovascular system
21.4%
Abnormality of the eye
21.4%
Neoplasm
21.4%
Abnormality of the endocrine system
14.3%
Abnormality of the integument
14.3%
Abnormality of the respiratory system
14.3%
Growth abnormality
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the immune system
7.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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