DYM Chromosome 18
Dymeclin
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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 |
|---|---|---|---|
| RS780873164 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS786205511 | Health Risk | Pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS794727290 | Health Risk | Pathogenic | — |
| RS120074162 | Health Risk | Pathogenic/Likely pathogenic | Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1, Inborn genetic diseases |
| RS1471488189 | Health Risk | Pathogenic/Likely pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS201540129 | Health Risk | Pathogenic/Likely pathogenic | Dyggve-Melchior-Clausen syndrome, Early-onset non-syndromic cataract, Dyggve-Melchior-Clausen syndrome |
| RS2087482291 | Health Risk | Pathogenic/Likely pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS567638775 | Health Risk | Pathogenic/Likely pathogenic | Dyggve-Melchior-Clausen syndrome, DYM-related disorder, Dyggve-Melchior-Clausen syndrome |
| RS768509996 | Health Risk | Pathogenic/Likely pathogenic | Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS771414481 | Health Risk | Pathogenic/Likely pathogenic | — |