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GSC2

Synonyms
GSCL
External resources
Summary
Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
79
Likely pathogenic
0
VUS
1,468
Likely benign
10
Benign
0

Patient phenotypes

Proportions of phenotypes among 78 patients carring pathogenic or likely pathogenic variants on GSC2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.7%
Abnormality of the cardiovascular system
26.9%
Abnormality of the musculoskeletal system
24.4%
Growth abnormality
16.7%
Abnormality of head or neck
15.4%
Abnormality of the eye
14.1%
Abnormality of the ear
11.5%
Abnormality of the genitourinary system
9%
Abnormality of prenatal development or birth
6.4%
Abnormality of the digestive system
6.4%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of the endocrine system
5.1%
Abnormality of the respiratory system
5.1%
Abnormality of limbs
3.8%
Abnormality of the integument
3.8%
Abnormality of the immune system
2.6%
Abnormality of the breast
1.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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