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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

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
44
Likely pathogenic
3
VUS
4,281
Likely benign
4,757
Benign
5,198

Patient phenotypes

Proportions of phenotypes among 44 patients carring pathogenic or likely pathogenic variants on CEP152 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.2%
Abnormality of the musculoskeletal system
31.8%
Abnormality of head or neck
29.5%
Abnormality of the eye
20.5%
Growth abnormality
18.2%
Abnormality of the cardiovascular system
13.6%
Abnormality of the ear
13.6%
Abnormality of the integument
13.6%
Abnormality of the genitourinary system
11.4%
Abnormality of the endocrine system
9.1%
Abnormality of the immune system
9.1%
Abnormality of blood and blood-forming tissues
6.8%
Abnormality of limbs
6.8%
Abnormal cellular phenotype
4.5%
Abnormality of the digestive system
4.5%
Neoplasm
4.5%
Abnormality of prenatal development or birth
2.3%
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%

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