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ADAMTS19

Synonyms
-
External resources
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member.

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
12
Likely pathogenic
0
VUS
3,922
Likely benign
2,182
Benign
579

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on ADAMTS19 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Abnormality of the ear
20%
Abnormality of the eye
20%
Abnormality of limbs
10%
Abnormality of the integument
10%
Growth abnormality
10%
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 cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary 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%
Constitutional symptom
0%
Neoplasm
0%

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