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 |
|---|---|---|---|
| RS116541830 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS1285176283 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS138970947 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141630862 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS141952128 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome 1, ADAMTS10-related disorder, Weill-Marchesani syndrome 1 |
| RS142320702 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS142602984 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS144166844 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Inborn genetic diseases, Weill-Marchesani syndrome |
| RS144596955 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145420448 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS147694025 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, ADAMTS10-related disorder, Weill-Marchesani syndrome |
| RS148493665 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS149014496 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS149789969 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, ADAMTS10-related disorder, Weill-Marchesani syndrome |
| RS150055188 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS150203950 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, ADAMTS10-related disorder, Weill-Marchesani syndrome |
| RS1555740123 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS1555741462 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS183691340 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS200551849 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS201882173 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS202158691 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS367671600 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS368465218 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS370179236 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome 1, Weill-Marchesani syndrome |
| RS371013844 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS373993156 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS374055293 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS545953920 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS557374103 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS61757472 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS759098979 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS781831794 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS781920954 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS782085654 | Health Risk | Conflicting classifications of pathogenicity | ADAMTS10-related disorder, ADAMTS10-related disorder |
| RS782096562 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS782114199 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS782138140 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS782449192 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS782625211 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, ADAMTS10-related disorder, Weill-Marchesani syndrome |
| RS782638735 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS886054710 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS886054712 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS886054715 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani syndrome, Weill-Marchesani syndrome |
| RS1159059721 | Health Risk | Likely pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS1235872718 | Health Risk | Likely pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS1339572177 | Health Risk | Likely pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS2512575769 | Health Risk | Likely pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |
| RS2512594998 | Health Risk | Likely pathogenic | — |
| RS2512622286 | Health Risk | Likely pathogenic | Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1 |