Home > Gene Browser > GSX2
GSX2
- Synonyms
- DMJDS2, GSH2
- External resources
- NCBI170825
- OMIM616253
- EnsemblENSG00000180613
- HGNCHGNC:24959
- 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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