SHOX

short stature homeobox
OMIM: 312865, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SHOX in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	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 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 Tags Pseudoautosomal region 1
Green SHOX in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Langer mesomelic dysplasia, OMIM:249700 (PR) Leri-Weill dyschondrosteosis, OMIM:127300 (PD) Short stature, idiopathic familial, OMIM:300582 Tags Pseudoautosomal region 1
Green SHOX in Limb disorders Level 2: Musculoskeletal Version 7.17 Latest signed off version: v7.0 (30 Apr 2025) 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 Expert Review Green Other 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 Tags Pseudoautosomal region 1
Green SHOX in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) 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 Radboud University Medical Center, Nijmegen Emory Genetics Laboratory 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 Tags Pseudoautosomal region 1
Green SHOX in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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, OMIM:249700 (PR) Leri-Weill dyschondrosteosis, OMIM:127300 (PD) Short stature, idiopathic familial, OMIM:300582 Tags Pseudoautosomal region 1
Red SHOX in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen 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 Tags Pseudoautosomal region 1
Green SHOX in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LERI-WEILL DYSCHONDROSTEOSIS 127300 LANGER MESOMELIC DYSPLASIA 249700 Tags Pseudoautosomal region 1
Red SHOX in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Langer mesomelic dysplasia, OMIM:249700 (PR) Leri-Weill dyschondrosteosis, OMIM:127300 (PD) Short stature, idiopathic familial, OMIM:300582 Tags microdeletion Pseudoautosomal region 1
Green SHOX in Short stature - SHOX deficiency Level 2: Musculoskeletal Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Leri-Weill dyschondrosteosis, OMIM:127300 Langer mesomelic dysplasia, OMIM:249700 Short stature, idiopathic familial, OMIM:300582 SHOX-related short stature, MONDO:0010367 Tags Pseudoautosomal region 1
Amber SHOX in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Langer mesomelic dysplasia, OMIM:249700 (PR) Leri-Weill dyschondrosteosis, OMIM:127300 (PD) Short stature, idiopathic familial, OMIM:300582 Tags Pseudoautosomal region 1 technical-limitations