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RGS18

Synonyms
RGS13
External resources
Summary
This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.

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
16
Likely pathogenic
0
VUS
975
Likely benign
72
Benign
0

Patient phenotypes

Proportions of phenotypes among 16 patients carring pathogenic or likely pathogenic variants on RGS18 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
43.8%
Abnormality of the nervous system
31.3%
Abnormality of the immune system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
12.5%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of limbs
6.3%
Abnormality of the cardiovascular system
6.3%
Abnormality of the genitourinary system
6.3%
Abnormality of the integument
6.3%
Abnormality of the respiratory system
6.3%
Constitutional symptom
6.3%
Growth abnormality
6.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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