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Severe Paediatric Disorders v1.84 | SHOX | Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | SHOX | Louise Daugherty reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SHOX | Louise Daugherty Publications for gene SHOX were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SHOX | Louise Daugherty Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SHOX | Louise Daugherty Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SHOX | Louise Daugherty Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SHOX | Louise Daugherty Added phenotypes Langer mesomelic dysplasia, 249700; Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582 for gene: SHOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SHOX |
Louise Daugherty Mode of inheritance for gene SHOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX |
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Severe Paediatric Disorders v0.7 | SHOX | Louise Daugherty Source Next Generation Children Project was added to SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SHOX |
Louise Daugherty Source Expert Review Green was added to SHOX. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SHOX |
Louise Daugherty gene: SHOX was added gene: SHOX was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SHOX was set to |