Activity
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6 actions
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| Short stature - SHOX deficiency v1.2 | SHOX | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #12730, #249700 & #300582) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short stature - SHOX deficiency v1.2 | SHOX | Achchuthan Shanmugasundram Phenotypes for gene: SHOX were changed from to Leri-Weill dyschondrosteosis, OMIM:127300; Langer mesomelic dysplasia, OMIM:249700; Short stature, idiopathic familial, OMIM:300582; SHOX-related short stature, MONDO:0010367 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short stature - SHOX deficiency v0.1 | SHOX | Achchuthan Shanmugasundram Tag Pseudoautosomal region 1 tag was added to gene: SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short stature - SHOX deficiency v0.1 | SHOX | Achchuthan Shanmugasundram reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short stature - SHOX deficiency v0.1 | SHOX |
Achchuthan Shanmugasundram gene: SHOX was added gene: SHOX was added to Short stature - SHOX deficiency. Sources: Expert Review Green,NHS GMS 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 |
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| Short stature - SHOX deficiency v0.0 |
Achchuthan Shanmugasundram Added Panel Short stature - SHOX deficiency Set list of related panels to R52 Set panel types to: GMS Rare Disease |
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