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RGS9

Synonyms
PERRS, RGS9L
External resources
Summary
This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found 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
24
Likely pathogenic
0
VUS
3,467
Likely benign
8,015
Benign
1

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on RGS9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
26.3%
Abnormality of the cardiovascular system
21.1%
Abnormality of the ear
21.1%
Abnormality of the genitourinary system
15.8%
Abnormality of the immune system
15.8%
Abnormality of the musculoskeletal system
15.8%
Growth abnormality
15.8%
Abnormality of head or neck
10.5%
Abnormal cellular phenotype
5.3%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the eye
5.3%
Abnormality of the respiratory system
5.3%
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 integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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