| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.0 | SHOX downstream regulatory region | Region SHOX downstream regulatory region migrated (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.0 | SHOX | Gene migrated from ENSG00000185960 to ENSG00000185960 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.449 | SHOX downstream regulatory region | Sarah Milton Classified Region: SHOX downstream regulatory region as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.449 | SHOX downstream regulatory region | Sarah Milton Region: shox downstream regulatory region has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.431 | Sarah Milton Copied Region SHOX downstream regulatory region from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.431 | SHOX downstream regulatory region |
Sarah Milton Region: SHOX downstream regulatory region was added Region: SHOX downstream regulatory region was added to Skeletal dysplasia. 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 |
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| Skeletal dysplasia v0.0 | SHOX |
Zornitza Stark gene: SHOX was added gene: SHOX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis 127300; Short stature, idiopathic familial 300582; Langer mesomelic dysplasia 249700 |
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