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GOSR2

Synonyms
Bos1, EPM6, GS27
External resources
Summary
This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension.

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
15
Likely pathogenic
0
VUS
1,857
Likely benign
561
Benign
340

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on GOSR2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
46.7%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
20%
Abnormality of the cardiovascular system
20%
Abnormality of the eye
20%
Abnormality of limbs
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the integument
6.7%
Abnormality of the musculoskeletal system
6.7%
Growth abnormality
6.7%
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 endocrine 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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