ADAMTS17 Chromosome 15
ADAM metallopeptidase with thrombospondin type 1 motif 17
Upload your DNA to see your personal genotypes for variants in ADAMTS17.
What This Gene Does
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 promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
15q26.3
Ensembl
ENSG00000140470
Associated Conditions (6)
Weill-Marchesani 4 syndrome
recessive
Inborn genetic diseases
ADAMTS17-related disorder
Ovarian serous cystadenocarcinoma
Anterior segment dysgenesis
Key Variants
RS1360871464
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS139059770
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS139105066
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS140930935
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Inborn genetic diseases
Health Risk
RS141373128
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, ADAMTS17-related disorder
Health Risk
RS143480636
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143817747
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, ADAMTS17-related disorder
Health Risk
RS143891379
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS143896591
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS144007074
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS144662002
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
RS1447997408
Conflicting classifications of pathogenicity
Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS759640649 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760290195 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS765531556 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS767074176 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS767077707 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS770627848 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS770794109 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Inborn genetic diseases |
| RS777524361 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS780909666 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS886050980 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Inborn genetic diseases |
| RS886050982 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS886050983 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS900832969 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS943576519 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS946108501 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Inborn genetic diseases |
| RS958960649 | Health Risk | Conflicting classifications of pathogenicity | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS1227702983 | Health Risk | Likely pathogenic | — |
| RS1235770156 | Health Risk | Likely pathogenic | — |
| RS1289240183 | Health Risk | Likely pathogenic | Weill-Marchesani 4 syndrome, recessive, Ovarian serous cystadenocarcinoma |
| RS2031931706 | Health Risk | Likely pathogenic | — |
| RS2032358181 | Health Risk | Likely pathogenic | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS2039235887 | Health Risk | Likely pathogenic | — |
| RS2141600468 | Health Risk | Likely pathogenic | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS2141962944 | Health Risk | Likely pathogenic | — |
| RS2547991854 | Health Risk | Likely pathogenic | — |
| RS2547991857 | Health Risk | Likely pathogenic | — |
| RS2548477838 | Health Risk | Likely pathogenic | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS2548769622 | Health Risk | Likely pathogenic | — |
| RS2548992701 | Health Risk | Likely pathogenic | ADAMTS17-related disorder, ADAMTS17-related disorder |
| RS558730527 | Health Risk | Likely pathogenic | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS755208325 | Health Risk | Likely pathogenic | — |
| RS1160509052 | Health Risk | Pathogenic | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS1225510787 | Health Risk | Pathogenic | — |
| RS1421713385 | Health Risk | Pathogenic | — |
| RS1485036096 | Health Risk | Pathogenic | — |
| RS1555501030 | Health Risk | Pathogenic | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS1567657684 | Health Risk | Pathogenic | — |
| RS201484140 | Health Risk | Pathogenic | — |
| RS2141262666 | Health Risk | Pathogenic | — |
| RS2141346807 | Health Risk | Pathogenic | — |
| RS2142079953 | Health Risk | Pathogenic | Weill-Marchesani 4 syndrome, recessive, Weill-Marchesani 4 syndrome |
| RS2547951708 | Health Risk | Pathogenic | — |
| RS2548003441 | Health Risk | Pathogenic | — |
| RS2548004546 | Health Risk | Pathogenic | — |
| RS2548116564 | Health Risk | Pathogenic | — |
| RS2548125094 | Health Risk | Pathogenic | — |
| RS2548325639 | Health Risk | Pathogenic | — |
| RS2548591444 | Health Risk | Pathogenic | — |
| RS2548591542 | Health Risk | Pathogenic | — |
| RS2548794511 | Health Risk | Pathogenic | — |