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WDR62

Synonyms
C19orf14, MCPH2
External resources
Summary
This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. 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
32
Likely pathogenic
1
VUS
19,374
Likely benign
10,689
Benign
1,334

Patient phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on WDR62 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
41.9%
Abnormality of head or neck
38.7%
Abnormality of the nervous system
38.7%
Abnormality of the eye
22.6%
Abnormality of the integument
16.1%
Abnormality of the cardiovascular system
12.9%
Growth abnormality
12.9%
Abnormality of limbs
9.7%
Abnormality of the ear
9.7%
Abnormality of the genitourinary system
9.7%
Abnormality of the immune system
9.7%
Abnormality of the respiratory system
9.7%
Abnormality of blood and blood-forming tissues
6.5%
Abnormality of the endocrine system
3.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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