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| 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 |
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| Mendeliome v0.9009 | SHOX2 | Zornitza Stark Marked gene: SHOX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9009 | SHOX2 | Zornitza Stark Gene: shox2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9009 | SHOX2 |
Zornitza Stark gene: SHOX2 was added gene: SHOX2 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: SHOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOX2 were set to 30443179 Phenotypes for gene: SHOX2 were set to Sinus Node Dysfunction; Atrial Fibrillation Review for gene: SHOX2 was set to RED Added comment: Single family reported with LoF in this gene and AF. Sources: Expert Review |
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| Mendeliome v0.8876 | SHOX | Zornitza Stark Marked gene: SHOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8876 | SHOX | Zornitza Stark Gene: shox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8876 | SHOX | Zornitza Stark Phenotypes for gene: SHOX were changed from to Langer mesomelic dysplasia, MIM# 249700; Leri-Weill dyschondrosteosis, MIM# 127300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8875 | SHOX | Zornitza Stark Mode of inheritance for gene: SHOX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8874 | SHOX | Zornitza Stark Tag SV/CNV tag was added to gene: SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8874 | SHOX | Zornitza Stark reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Langer mesomelic dysplasia, MIM# 249700, Leri-Weill dyschondrosteosis, MIM# 127300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SHOX |
Zornitza Stark gene: SHOX was added gene: SHOX was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SHOX was set to Unknown |
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