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PLCH2

Synonyms
PLC-L4, PLC-eta2, PLCL4, PLCeta2
External resources
Summary
PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005

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
17
Likely pathogenic
0
VUS
8,964
Likely benign
2,129
Benign
0

Patient phenotypes

Proportions of phenotypes among 17 patients carring pathogenic or likely pathogenic variants on PLCH2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.1%
Abnormality of the integument
35.3%
Abnormality of the musculoskeletal system
35.3%
Abnormality of limbs
29.4%
Growth abnormality
29.4%
Abnormality of head or neck
17.6%
Abnormality of the cardiovascular system
17.6%
Abnormality of the eye
17.6%
Abnormality of blood and blood-forming tissues
11.8%
Abnormality of prenatal development or birth
11.8%
Abnormality of the ear
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of the immune system
11.8%
Abnormality of the digestive system
5.9%
Abnormality of the endocrine system
5.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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