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ADAMTS12

Synonyms
PRO4389
External resources
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion.

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
21
Likely pathogenic
0
VUS
6,206
Likely benign
748
Benign
0

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on ADAMTS12 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
52.4%
Abnormality of the genitourinary system
38.1%
Abnormality of the musculoskeletal system
38.1%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
28.6%
Abnormality of limbs
14.3%
Abnormality of the cardiovascular system
9.5%
Abnormality of the ear
9.5%
Abnormality of the endocrine system
9.5%
Abnormality of the integument
9.5%
Growth abnormality
9.5%
Abnormality of the immune system
4.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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