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SDCCAG8

Synonyms
BBS16, CCCAP, CCCAP SLSN7, HSPC085, NPHP10, NY-CO-8, SLSN7, hCCCAP
External resources
Summary
This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy.

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
44
Likely pathogenic
0
VUS
3,020
Likely benign
1,084
Benign
265

Patient phenotypes

Proportions of phenotypes among 43 patients carrying pathogenic or likely pathogenic variants on SDCCAG8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
25.6%
Abnormality of the cardiovascular system
20.9%
Abnormality of the musculoskeletal system
18.6%
Abnormality of the eye
14%
Abnormality of head or neck
11.6%
Abnormality of blood and blood-forming tissues
7%
Abnormality of limbs
7%
Abnormality of the digestive system
7%
Abnormality of the genitourinary system
7%
Abnormality of the integument
7%
Abnormality of the endocrine system
4.7%
Growth abnormality
4.7%
Abnormality of prenatal development or birth
2.3%
Abnormality of the ear
2.3%
Abnormality of the immune system
2.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
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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