Activity
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7 actions
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| Monogenic short stature v1.30 | SHOX | Achchuthan Shanmugasundram Tag technical-limitations tag was added to gene: SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.30 | SHOX | Achchuthan Shanmugasundram Classified gene: SHOX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.30 | SHOX | Achchuthan Shanmugasundram Gene: shox has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.29 | SHOX | Achchuthan Shanmugasundram reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.152 | SHOX2 |
Arina Puzriakova gene: SHOX2 was added gene: SHOX2 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: SHOX2 was set to Unknown |
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| Monogenic short stature v0.57 | SHOX | Arina Puzriakova Entity copied from Growth failure in early childhood v3.77 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.57 | SHOX |
Arina Puzriakova gene: SHOX was added gene: SHOX was added to Monogenic short stature. Sources: Expert Review Green,NHS GMS Pseudoautosomal region 1 tags were added to gene: SHOX. 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 Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582 |
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