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DPY30

Synonyms
Cps25, HDPY-30, Saf19
External resources
Summary
This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells.

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
40
Likely pathogenic
0
VUS
8,370
Likely benign
3
Benign
0

Patient phenotypes

Proportions of phenotypes among 40 patients carring pathogenic or likely pathogenic variants on DPY30 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of the cardiovascular system
22.5%
Abnormality of the musculoskeletal system
20%
Abnormality of head or neck
17.5%
Abnormality of the ear
17.5%
Abnormality of the genitourinary system
12.5%
Growth abnormality
12.5%
Abnormality of the eye
10%
Abnormality of the immune system
7.5%
Abnormality of blood and blood-forming tissues
5%
Abnormality of limbs
2.5%
Abnormality of the digestive system
2.5%
Abnormality of the integument
2.5%
Abnormality of the respiratory system
2.5%
Constitutional symptom
2.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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