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CEP152

Synonyms
MCPH4, MCPH9, SCKL5
External resources
Summary
This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants.

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
68
Likely pathogenic
4
VUS
6,656
Likely benign
6,298
Benign
1,922

Patient phenotypes

Proportions of phenotypes among 68 patients carrying pathogenic or likely pathogenic variants on CEP152 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.8%
Abnormality of the musculoskeletal system
25%
Abnormality of the ear
22.1%
Abnormality of head or neck
20.6%
Abnormality of the eye
14.7%
Abnormality of the cardiovascular system
11.8%
Growth abnormality
11.8%
Abnormality of the genitourinary system
10.3%
Abnormality of the immune system
10.3%
Abnormality of the integument
10.3%
Abnormality of blood and blood-forming tissues
7.4%
Abnormality of limbs
7.4%
Abnormality of the endocrine system
7.4%
Neoplasm
4.4%
Abnormal cellular phenotype
2.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the digestive system
2.9%
Constitutional symptom
1.5%
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%

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