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ADAMTS16

Synonyms
ADAMTS16s
External resources
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure.

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
15
Likely pathogenic
0
VUS
15,160
Likely benign
2,811
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on ADAMTS16 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
64.3%
Abnormality of the musculoskeletal system
42.9%
Abnormality of head or neck
28.6%
Abnormality of the cardiovascular system
21.4%
Abnormality of the eye
21.4%
Growth abnormality
21.4%
Abnormality of the digestive system
14.3%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the immune system
14.3%
Abnormality of the integument
14.3%
Abnormality of limbs
7.1%
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 endocrine 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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