Home > Gene Browser > CEP290

CEP290

Synonyms
3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
External resources
Summary
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer.

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
167
Likely pathogenic
4
VUS
16,709
Likely benign
10,622
Benign
2,104

Patient phenotypes

Proportions of phenotypes among 164 patients carrying pathogenic or likely pathogenic variants on CEP290 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.7%
Abnormality of the musculoskeletal system
26.2%
Abnormality of the eye
25%
Abnormality of head or neck
20.1%
Abnormality of the ear
18.3%
Abnormality of the cardiovascular system
17.7%
Growth abnormality
11%
Abnormality of the digestive system
9.8%
Abnormality of the genitourinary system
9.8%
Abnormality of limbs
9.1%
Abnormality of the integument
8.5%
Abnormality of the immune system
4.9%
Abnormality of the respiratory system
4.9%
Abnormality of the endocrine system
4.3%
Neoplasm
4.3%
Abnormality of blood and blood-forming tissues
1.8%
Abnormality of prenatal development or birth
1.8%
Constitutional symptom
1.2%
Abnormality of the voice
0.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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