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CEP89

Synonyms
CCDC123, CEP123
External resources

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
184
Likely pathogenic
0
VUS
8,264
Likely benign
736
Benign
0

Patient Phenotypes

Proportions of phenotypes among 116 patients carrying pathogenic or likely pathogenic variants on CEP89 gene are displayed below. The following symptoms were found in patients with a variant in CEP89. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.2%
Abnormality of the musculoskeletal system
21.6%
Abnormality of head or neck
19%
Abnormality of the cardiovascular system
19%
Abnormality of the eye
19%
Abnormality of the ear
13.8%
Abnormality of the genitourinary system
12.9%
Growth abnormality
11.2%
Abnormality of limbs
7.8%
Abnormality of blood and blood forming tissues
6.9%
Abnormality of the digestive system
6%
Abnormality of the integument
5.2%
Abnormality of prenatal development or birth
4.3%
Abnormality of metabolism homeostasis
3.4%
Abnormality of the respiratory system
2.6%
Neoplasm
2.6%
Abnormality of the breast
1.7%
Abnormality of the endocrine system
1.7%
Abnormality of the immune system
1.7%
Constitutional symptom
0.9%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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