| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4757 | SHOX downstream regulatory region |
Sarah Milton Region: SHOX downstream regulatory region was added Region: SHOX downstream regulatory region was added to Mendeliome. Sources: Literature regulatory region tags were added to Region: SHOX downstream regulatory region. Mode of inheritance for Region: SHOX downstream regulatory region was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: SHOX downstream regulatory region were set to PMID: 30250174; 22791839; 23636926; 20301394 Phenotypes for Region: SHOX downstream regulatory region were set to Leri-Weill dyschondrosteosis (MIM#127300); Short stature, idiopathic familial (MIM#300582) Penetrance for Region: SHOX downstream regulatory region were set to Incomplete Review for Region: SHOX downstream regulatory region was set to GREEN Added comment: Deletions downstream of the SHOX coding region are known to be associated with idiopathic short stature and Leri-Weill dyschondrosteosis. These deletions affect a conserved non coding element. A recurrent 47.5kb deletion has been identified in a number of individuals with highly variable severity ranging from unaffected to Madelung deformity, short stature and mesomelia. Supportive luciferase reporter assays in animal models confirm limb enhancer activity of this region. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||