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RIT1

Synonyms
NS8, RIBB, RIT, ROC1
External resources
Summary
This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants.

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
1
VUS
429
Likely benign
146
Benign
257

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on RIT1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
62.5%
Abnormality of head or neck
50%
Abnormality of the cardiovascular system
50%
Abnormality of the eye
50%
Abnormality of the ear
37.5%
Abnormality of the breast
25%
Abnormality of the genitourinary system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of limbs
12.5%
Abnormality of the endocrine system
12.5%
Abnormality of the respiratory system
12.5%
Growth abnormality
12.5%
Neoplasm
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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