SHOX

short stature homeobox
OMIM: 312865, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green SHOX in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Leri-Weill dyschondrosteosis, 127300 bowing of the radius radioulnar shortening Langer mesomelic dysplasia, 249700 curved radius dorsolateral bowed, short radii
Green SHOX in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.30	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory
Green SHOX in Limb disorders Version 2.11 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Langer mesomelic dysplasia, 249700 dorsolateral bowed, short radii bowing of the radius curved radius radioulnar shortening Leri-Weill dyschondrosteosis, 127300
Red SHOX in Autism Version 0.15	review	Not set	Sources Expert Review Red SFARI
Green SHOX in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 2.9 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Langer mesomelic dysplasia 249700 Short stature, idiopathic familial 300582 Leri-Weill dyschondrosteosis 127300
Green SHOX in Fetal anomalies Version 1.73 Signed off v.1.2 on 17 Feb 2020	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes LANGER MESOMELIC DYSPLASIA LERI-WEILL DYSCHONDROSTEOSIS
Red SHOX in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 2.6 Signed off v.2.2 on 13 Feb 2020	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Short stature, idiopathic familial, 300582 Leri-Weill dyschondrosteosis, 127300 Langer mesomelic dysplasia, 249700 Proportionate Short Stature/Small for Gestational Age Disproportionate Short Stature
Green SHOX in DDG2P Version 2.8 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LERI-WEILL DYSCHONDROSTEOSIS 127300 LANGER MESOMELIC DYSPLASIA 249700
Red SHOX in Growth failure in early childhood Version 1.8 Signed off v.1.4 on 3 Mar 2020	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red
Red SHOX in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.130 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	Unknown	Sources Expert Review Red Phenotypes SHOX deficiency (with Intellectual disability) Tags microdeletion
Green SHOX in Severe Paediatric Disorders Version 1.6	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Leri-Weill dyschondrosteosis, 127300 Short stature, idiopathic familial, 300582 Langer mesomelic dysplasia, 249700