ADAMTS18 Chromosome 16
ADAM metallopeptidase with thrombospondin type 1 motif 18
Upload your DNA to see your personal genotypes for variants in ADAMTS18.
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 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. [provided by RefSeq, May 2016]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000140873
Associated Conditions (7)
Retinitis pigmentosa
Inborn genetic diseases
Microcornea-myopic chorioretinal atrophy
Retinal dystrophy
ADAMTS18-related disorder
Familial cancer of breast
Retinal disorder
Key Variants
RS138435590
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Inborn genetic diseases, Microcornea-myopic chorioretinal atrophy
Health Risk
RS139553755
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141026455
Conflicting classifications of pathogenicity
ADAMTS18-related disorder, Inborn genetic diseases, ADAMTS18-related disorder
Health Risk
RS141796905
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143359890
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143757943
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1451891780
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145823665
Conflicting classifications of pathogenicity
ADAMTS18-related disorder, Inborn genetic diseases, ADAMTS18-related disorder
Health Risk
RS148703569
Conflicting classifications of pathogenicity
Microcornea-myopic chorioretinal atrophy, Retinitis pigmentosa, ADAMTS18-related disorder
Health Risk
RS183006469
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201193356
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202020248
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138435590 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Inborn genetic diseases, Microcornea-myopic chorioretinal atrophy |
| RS139553755 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141026455 | Health Risk | Conflicting classifications of pathogenicity | ADAMTS18-related disorder, Inborn genetic diseases, ADAMTS18-related disorder |
| RS141796905 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143359890 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143757943 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1451891780 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145823665 | Health Risk | Conflicting classifications of pathogenicity | ADAMTS18-related disorder, Inborn genetic diseases, ADAMTS18-related disorder |
| RS148703569 | Health Risk | Conflicting classifications of pathogenicity | Microcornea-myopic chorioretinal atrophy, Retinitis pigmentosa, ADAMTS18-related disorder |
| RS183006469 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201193356 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202020248 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS544700847 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61749041 | Health Risk | Conflicting classifications of pathogenicity | ADAMTS18-related disorder, Inborn genetic diseases, ADAMTS18-related disorder |
| RS748200917 | Health Risk | Conflicting classifications of pathogenicity | ADAMTS18-related disorder, ADAMTS18-related disorder |
| RS751818903 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS778021478 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS912591669 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1049158799 | Health Risk | Likely pathogenic | — |
| RS1597081365 | Health Risk | Likely pathogenic | — |
| RS201570714 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2144639924 | Health Risk | Likely pathogenic | — |
| RS2144875247 | Health Risk | Likely pathogenic | — |
| RS2543879829 | Health Risk | Likely pathogenic | — |
| RS757960389 | Health Risk | Likely pathogenic | — |
| RS768314617 | Health Risk | Likely pathogenic | — |
| RS773523852 | Health Risk | Likely pathogenic | — |
| RS777218145 | Health Risk | Likely pathogenic | ADAMTS18-related disorder, ADAMTS18-related disorder |
| RS780657444 | Health Risk | Likely pathogenic | — |
| RS1011453043 | Health Risk | Pathogenic | Microcornea-myopic chorioretinal atrophy, Microcornea-myopic chorioretinal atrophy |
| RS1254842178 | Health Risk | Pathogenic | — |
| RS1353109719 | Health Risk | Pathogenic | — |
| RS1451537398 | Health Risk | Pathogenic | — |
| RS187879501 | Health Risk | Pathogenic | — |
| RS191773926 | Health Risk | Pathogenic | Microcornea-myopic chorioretinal atrophy, Microcornea-myopic chorioretinal atrophy |
| RS2055318198 | Health Risk | Pathogenic | — |
| RS2056017907 | Health Risk | Pathogenic | — |
| RS2056812732 | Health Risk | Pathogenic | — |
| RS2144565433 | Health Risk | Pathogenic | — |
| RS2144571454 | Health Risk | Pathogenic | — |
| RS2144577875 | Health Risk | Pathogenic | — |
| RS2144744609 | Health Risk | Pathogenic | — |
| RS2144744755 | Health Risk | Pathogenic | — |
| RS2543644692 | Health Risk | Pathogenic | — |
| RS2543648043 | Health Risk | Pathogenic | — |
| RS2543747439 | Health Risk | Pathogenic | — |
| RS2543756421 | Health Risk | Pathogenic | — |
| RS369984540 | Health Risk | Pathogenic | — |
| RS397515467 | Health Risk | Pathogenic | Microcornea-myopic chorioretinal atrophy, Microcornea-myopic chorioretinal atrophy |
| RS397515468 | Health Risk | Pathogenic | Microcornea-myopic chorioretinal atrophy, Microcornea-myopic chorioretinal atrophy |