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PLEKHG2

Synonyms
ARHGEF42, CLG, CTB-60E11.4, LDAMD
External resources
Summary
The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia.

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
7
Likely pathogenic
66
VUS
7,226
Likely benign
5,562
Benign
468

Patient phenotypes

Proportions of phenotypes among 72 patients carrying pathogenic or likely pathogenic variants on PLEKHG2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.6%
Abnormality of the cardiovascular system
27.8%
Abnormality of the ear
18.1%
Abnormality of the musculoskeletal system
12.5%
Abnormality of the genitourinary system
9.7%
Abnormality of blood and blood-forming tissues
6.9%
Abnormality of head or neck
6.9%
Growth abnormality
6.9%
Abnormality of limbs
5.6%
Abnormality of the eye
5.6%
Abnormality of the digestive system
4.2%
Abnormality of the endocrine system
4.2%
Abnormality of the immune system
2.8%
Abnormality of the integument
2.8%
Neoplasm
2.8%
Abnormality of prenatal development or birth
1.4%
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%

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