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ARHGAP23

Synonyms
-
External resources
Summary
The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).

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
6
Likely pathogenic
12
VUS
10,757
Likely benign
7,585
Benign
0

Patient phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on ARHGAP23 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
27.8%
Abnormality of the eye
22.2%
Abnormality of the musculoskeletal system
22.2%
Abnormality of head or neck
11.1%
Abnormality of the cardiovascular system
11.1%
Growth abnormality
11.1%
Abnormality of the digestive system
5.6%
Abnormality of the ear
5.6%
Abnormality of the integument
5.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
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 genitourinary system
0%
Abnormality of the immune system
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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