DYM Chromosome 18
Dymeclin
Upload your DNA to see your personal genotypes for variants in DYM.
What This Gene Does
This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]
Gene Info
Gene Group
"Armadillo like helical domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
18q21.1
Ensembl
ENSG00000141627
Associated Conditions (7)
Inborn genetic diseases
DYM-related disorder
DYM-Related Skeletal Dysplasia Syndrome
Smith-McCort dysplasia 1
Dyggve-Melchior-Clausen syndrome
Connective tissue disorder
Early-onset non-syndromic cataract
Key Variants
RS138427861
Conflicting classifications of pathogenicity
Health Risk
RS145408029
Conflicting classifications of pathogenicity
Inborn genetic diseases, DYM-related disorder, DYM-Related Skeletal Dysplasia Syndrome
Health Risk
RS146000214
Conflicting classifications of pathogenicity
DYM-related disorder, DYM-related disorder
Health Risk
RS150849326
Conflicting classifications of pathogenicity
DYM-related disorder, DYM-related disorder
Health Risk
RS151034190
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201652921
Conflicting classifications of pathogenicity
Smith-McCort dysplasia 1, DYM-related disorder, Dyggve-Melchior-Clausen syndrome
Health Risk
RS2071164208
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374105000
Conflicting classifications of pathogenicity
Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1, Dyggve-Melchior-Clausen syndrome
Health Risk
RS374658638
Conflicting classifications of pathogenicity
Smith-McCort dysplasia 1, Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1
Health Risk
RS557407004
Conflicting classifications of pathogenicity
Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1, DYM-related disorder
Health Risk
RS756877451
Conflicting classifications of pathogenicity
Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
Health Risk
RS775696326
Conflicting classifications of pathogenicity
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138427861 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145408029 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, DYM-related disorder, DYM-Related Skeletal Dysplasia Syndrome |
| RS146000214 | Health Risk | Conflicting classifications of pathogenicity | DYM-related disorder, DYM-related disorder |
| RS150849326 | Health Risk | Conflicting classifications of pathogenicity | DYM-related disorder, DYM-related disorder |
| RS151034190 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201652921 | Health Risk | Conflicting classifications of pathogenicity | Smith-McCort dysplasia 1, DYM-related disorder, Dyggve-Melchior-Clausen syndrome |
| RS2071164208 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374105000 | Health Risk | Conflicting classifications of pathogenicity | Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1, Dyggve-Melchior-Clausen syndrome |
| RS374658638 | Health Risk | Conflicting classifications of pathogenicity | Smith-McCort dysplasia 1, Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1 |
| RS557407004 | Health Risk | Conflicting classifications of pathogenicity | Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1, DYM-related disorder |
| RS756877451 | Health Risk | Conflicting classifications of pathogenicity | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS775696326 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS77902523 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1316990533 | Health Risk | Likely pathogenic | — |
| RS148059981 | Health Risk | Likely pathogenic | — |
| RS2087501886 | Health Risk | Likely pathogenic | — |
| RS2094725764 | Health Risk | Likely pathogenic | — |
| RS2094993424 | Health Risk | Likely pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2145744381 | Health Risk | Likely pathogenic | — |
| RS2145988239 | Health Risk | Likely pathogenic | — |
| RS2148459355 | Health Risk | Likely pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2514909662 | Health Risk | Likely pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2524201617 | Health Risk | Likely pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS786205512 | Health Risk | Likely pathogenic | — |
| RS786205513 | Health Risk | Likely pathogenic | — |
| RS120074161 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS120074163 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS120074164 | Health Risk | Pathogenic | Smith-McCort dysplasia 1, DYM-related disorder, Smith-McCort dysplasia 1 |
| RS120074165 | Health Risk | Pathogenic | Smith-McCort dysplasia 1, Smith-McCort dysplasia 1 |
| RS1440421643 | Health Risk | Pathogenic | — |
| RS1568119124 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS1568264929 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS1568319747 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS1600192503 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2063332964 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2071152135 | Health Risk | Pathogenic | — |
| RS2074694091 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2087496511 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2087498329 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2095000244 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2145537667 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2147362866 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2147678318 | Health Risk | Pathogenic | — |
| RS2517729144 | Health Risk | Pathogenic | — |
| RS2517730377 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS752868357 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS763380940 | Health Risk | Pathogenic | — |
| RS767767037 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS770130369 | Health Risk | Pathogenic | — |
| RS775414124 | Health Risk | Pathogenic | Smith-McCort dysplasia 1, Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1 |