Osteogenesis imperfecta
Gene: SHOX
Phenotypes
Leri-Weill dyschondrosteosis (LWD); short stature
Publications
This gene is associated with Short Stature Syndromes as opposed to the Osteogenesis Imperfecta phenotype.Created: 14 Dec 2015, 10:06 a.m.
Mode of inheritance for gene: SHOX was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SHOX were changed from Short stature, idiopathic familial, 300582; Leri-Weill dyschondrosteosis, 127300; Langer mesomelic dysplasia, 249700; Proportionate Short Stature/Small for Gestational Age; Disproportionate Short Stature to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582; Dorsolateral bowed, short radii; Bowing and curving of radius; Radioulnar shortening
Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
SHOX was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
SHOX was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen