Genomics England

SHOX

short stature homeobox

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes LERI-WEILL DYSCHONDROSTEOSIS 127300, LANGER MESOMELIC DYSPLASIA 249700
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Langer mesomelic dysplasia, OMIM:249700 (PR), Leri-Weill dyschondrosteosis, OMIM:127300 (PD), Short stature, idiopathic familial, OMIM:300582
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 5.4	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes 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
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Langer mesomelic dysplasia, OMIM:249700 (PR), Leri-Weill dyschondrosteosis, OMIM:127300 (PD), Short stature, idiopathic familial, OMIM:300582
Green in Short stature - SHOX deficiency R-numbers: R52 Signed-off version 1.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes 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