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SOSTDC1

Synonyms
CDA019, DAND7, ECTODIN, USAG1
External resources
Summary
This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death.

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
2
Likely pathogenic
12
VUS
1,671
Likely benign
16
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on SOSTDC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
42.9%
Abnormality of head or neck
21.4%
Abnormality of the genitourinary system
14.3%
Abnormality of the cardiovascular system
7.1%
Abnormality of the ear
7.1%
Abnormality of the integument
7.1%
Constitutional symptom
7.1%
Growth abnormality
7.1%
Neoplasm
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
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%

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