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DGKZ

Synonyms
DAGK5, DAGK6, DGK-ZETA, hDGKzeta
External resources
Summary
The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified.

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
96
Likely pathogenic
0
VUS
19,450
Likely benign
163
Benign
0

Patient phenotypes

Proportions of phenotypes among 92 patients carring pathogenic or likely pathogenic variants on DGKZ gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38%
Abnormality of the musculoskeletal system
29.3%
Abnormality of head or neck
21.7%
Abnormality of the eye
21.7%
Abnormality of the cardiovascular system
18.5%
Abnormality of the ear
15.2%
Abnormality of the genitourinary system
13%
Growth abnormality
9.8%
Abnormality of the digestive system
8.7%
Abnormality of the integument
6.5%
Abnormality of limbs
5.4%
Abnormality of the immune system
4.3%
Abnormality of blood and blood-forming tissues
3.3%
Abnormality of prenatal development or birth
3.3%
Neoplasm
2.2%
Abnormality of the breast
1.1%
Abnormality of the endocrine system
1.1%
Abnormality of the respiratory system
1.1%
Abnormality of the voice
1.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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