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CEP164

Synonyms
NPHP15
External resources
Summary
This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
677
Likely pathogenic
403
VUS
4,469
Likely benign
3,853
Benign
706

Patient Phenotypes

Proportions of phenotypes among 1074 patients carrying pathogenic or likely pathogenic variants on CEP164 gene are displayed below. The following symptoms were found in patients with a variant in CEP164. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.9%
Abnormality of the eye
32.4%
Abnormality of the musculoskeletal system
28.3%
Abnormality of head or neck
21.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the ear
16.6%
Growth abnormality
12.8%
Abnormality of the integument
11.3%
Abnormality of limbs
10.4%
Abnormality of the genitourinary system
9.9%
Abnormality of the digestive system
7.6%
Abnormality of metabolism homeostasis
7.4%
Abnormality of the immune system
5.5%
Abnormality of the endocrine system
4.2%
Abnormality of the respiratory system
3.9%
Abnormality of blood and blood forming tissues
3.5%
Abnormality of prenatal development or birth
3%
Neoplasm
2.6%
Constitutional symptom
0.8%
Abnormality of the breast
0.5%
Abnormality of the voice
0.5%
Abnormal cellular phenotype
0.4%
Abnormality of the thoracic cavity
0%

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