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PLCD1

Synonyms
NDNC3, PLC-III
External resources
Summary
This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
35
Likely pathogenic
0
VUS
4,362
Likely benign
3,136
Benign
0

Patient phenotypes

Proportions of phenotypes among 35 patients carrying pathogenic or likely pathogenic variants on PLCD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.1%
Abnormality of the cardiovascular system
31.4%
Abnormality of the musculoskeletal system
20%
Abnormality of head or neck
14.3%
Abnormality of limbs
11.4%
Abnormality of the immune system
11.4%
Abnormality of blood and blood-forming tissues
8.6%
Abnormality of the eye
8.6%
Abnormality of the integument
8.6%
Abnormality of the digestive system
5.7%
Abnormality of the ear
5.7%
Abnormality of the genitourinary system
5.7%
Abnormality of the endocrine system
2.9%
Abnormality of the voice
2.9%
Constitutional symptom
2.9%
Growth abnormality
2.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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