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CEP83

Synonyms
CCDC41, NPHP18, NY-REN-58
External resources
Summary
The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability.

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
5
Likely pathogenic
0
VUS
3,141
Likely benign
395
Benign
0

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on CEP83 gene are displayed below. The following symptoms were found in patients with a variant in CEP83. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
60%
Abnormality of the genitourinary system
60%
Abnormality of the musculoskeletal system
60%
Abnormality of the nervous system
60%
Abnormality of the integument
40%
Growth abnormality
40%
Abnormality of prenatal development or birth
20%
Abnormality of the digestive system
20%
Abnormality of the ear
20%
Abnormality of the endocrine system
20%
Abnormality of the eye
20%
Abnormality of the immune system
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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