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ADAMTS18

Synonyms
ADAMTS21, KNO2, MMCAT
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 regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients.

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
18
Likely pathogenic
0
VUS
3,563
Likely benign
2,956
Benign
265

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on ADAMTS18 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.9%
Abnormality of head or neck
22.2%
Abnormality of the ear
22.2%
Abnormality of the musculoskeletal system
22.2%
Abnormality of the cardiovascular system
16.7%
Abnormality of the eye
16.7%
Abnormality of the genitourinary system
16.7%
Growth abnormality
16.7%
Abnormality of limbs
11.1%
Abnormality of the immune system
11.1%
Abnormality of the integument
11.1%
Abnormality of the digestive system
5.6%
Abnormality of the respiratory system
5.6%
Neoplasm
5.6%
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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