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ADAMTS13

Synonyms
ADAM-TS13, ADAMTS-13, C9orf8, VWFCP, vWF-CP
External resources
Summary
This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants.

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
11
Likely pathogenic
7
VUS
6,509
Likely benign
4,973
Benign
687

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on ADAMTS13 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.9%
Abnormality of the nervous system
27.8%
Abnormality of the musculoskeletal system
22.2%
Abnormality of head or neck
16.7%
Abnormality of the ear
16.7%
Abnormality of limbs
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the genitourinary system
11.1%
Growth abnormality
11.1%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the immune system
5.6%
Abnormality of the integument
5.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
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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