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GSX2

Synonyms
DMJDS2, GSH2
External resources
Summary
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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
675
Likely benign
1
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on GSX2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
40%
Abnormality of the musculoskeletal system
40%
Abnormality of head or neck
33.3%
Abnormality of limbs
26.7%
Abnormality of the ear
26.7%
Abnormality of the immune system
26.7%
Abnormality of the integument
26.7%
Abnormality of the nervous system
26.7%
Abnormality of the digestive system
20%
Abnormality of the eye
20%
Growth abnormality
20%
Abnormality of blood and blood-forming tissues
13.3%
Abnormal cellular phenotype
6.7%
Abnormality of prenatal development or birth
6.7%
Abnormality of the respiratory system
6.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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