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TRIO

Synonyms
ARHGEF23, MEBAS, MRD44, MRD63, tgat
External resources
Summary
This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative 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
18
Likely pathogenic
0
VUS
5,696
Likely benign
18,996
Benign
8,486

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on TRIO gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of head or neck
53.3%
Abnormality of the musculoskeletal system
46.7%
Abnormality of the eye
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of the integument
33.3%
Abnormality of limbs
20%
Abnormality of the cardiovascular system
13.3%
Abnormal cellular phenotype
6.7%
Abnormality of prenatal development or birth
6.7%
Abnormality of the breast
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the endocrine system
6.7%
Constitutional symptom
6.7%
Growth abnormality
6.7%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the ear
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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