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CDK5RAP2

Synonyms
C48, Cep215, MCPH3
External resources
Summary
This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. 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
139
Likely pathogenic
436
VUS
10,209
Likely benign
7,754
Benign
4,164

Patient phenotypes

Proportions of phenotypes among 575 patients carrying pathogenic or likely pathogenic variants on CDK5RAP2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.7%
Abnormality of the musculoskeletal system
26.1%
Abnormality of the eye
24.9%
Abnormality of head or neck
22.1%
Abnormality of the cardiovascular system
20.5%
Abnormality of the ear
15.7%
Abnormality of limbs
11.8%
Growth abnormality
11.5%
Abnormality of the integument
10.3%
Abnormality of the genitourinary system
9.2%
Abnormality of the digestive system
8.7%
Abnormality of the immune system
6.3%
Abnormality of blood and blood-forming tissues
4.9%
Abnormality of the endocrine system
3.7%
Abnormality of the respiratory system
3.7%
Abnormality of prenatal development or birth
2.4%
Neoplasm
2.3%
Constitutional symptom
1%
Abnormality of the breast
0.7%
Abnormal cellular phenotype
0.2%
Abnormality of the voice
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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