ADAMTS10 Chromosome 19
ADAM metallopeptidase with thrombospondin type 1 motif 10
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What This Gene Does
This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000142303
Associated Conditions (4)
Weill-Marchesani syndrome
Inborn genetic diseases
Weill-Marchesani syndrome 1
ADAMTS10-related disorder
Key Variants
RS116541830
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Weill-Marchesani syndrome
Health Risk
RS1285176283
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Weill-Marchesani syndrome
Health Risk
RS138970947
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141630862
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Weill-Marchesani syndrome
Health Risk
RS141952128
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome 1, ADAMTS10-related disorder, Weill-Marchesani syndrome 1
Health Risk
RS142320702
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Weill-Marchesani syndrome
Health Risk
RS142602984
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
Health Risk
RS144166844
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Inborn genetic diseases, Weill-Marchesani syndrome
Health Risk
RS144596955
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145420448
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Weill-Marchesani syndrome
Health Risk
RS147694025
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, ADAMTS10-related disorder, Weill-Marchesani syndrome
Health Risk
RS148493665
Conflicting classifications of pathogenicity
Weill-Marchesani syndrome, Weill-Marchesani syndrome
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2512639575 | Health Risk | Likely pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS387906266 | Health Risk | Likely pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS782097535 | Health Risk | Likely pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS782720992 | Health Risk | Likely pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS121434357 | Health Risk | Pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS121434359 | Health Risk | Pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS2146071112 | Health Risk | Pathogenic | — |
| RS2146082887 | Health Risk | Pathogenic | — |
| RS2146093747 | Health Risk | Pathogenic | — |
| RS2146102535 | Health Risk | Pathogenic | — |
| RS2512571489 | Health Risk | Pathogenic | — |
| RS2512579074 | Health Risk | Pathogenic | — |
| RS2512591789 | Health Risk | Pathogenic | — |
| RS2512592873 | Health Risk | Pathogenic | — |
| RS2512608847 | Health Risk | Pathogenic | — |
| RS2512640171 | Health Risk | Pathogenic | — |
| RS267606636 | Health Risk | Pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS267606637 | Health Risk | Pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS431825170 | Health Risk | Pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS782305515 | Health Risk | Pathogenic | — |
| RS782743337 | Health Risk | Pathogenic | — |