SHOX

short stature homeobox
OMIM: 312865, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green SHOX in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes Leri-Weill dyschondrosteosis, MIM# 127300 Langer mesomelic dysplasia, MIM#249700
Green SHOX in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Langer mesomelic dysplasia, MIM# 249700 Leri-Weill dyschondrosteosis, MIM# 127300 Tags SV/CNV
Green SHOX in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Leri-Weill dyschondrosteosis, MIM# 127300 Langer mesomelic dysplasia, MIM#249700
Green SHOX in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Leri-Weill dyschondrosteosis 127300 Short stature, idiopathic familial 300582 Langer mesomelic dysplasia 249700
Green SHOX in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Langer mesomelic dysplasia, 249700 (3)
Green SHOX in Growth failure Version 1.76	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Langer mesomelic dysplasia, MIM# 249700 Leri-Weill dyschondrosteosis, MIM# 127300 Tags SV/CNV
Green SHOX in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Leri-Weill dyschondrosteosis, MIM# 127300 Langer mesomelic dysplasia, MIM#249700 Tags SV/CNV
Amber SHOX in Prepair 1000+ Level 2: Screening Version 1.9	review	Other	Sources Expert Review Amber Mackenzie's Mission Phenotypes Langer mesomelic dysplasia, 249700 (3) Tags SV/CNV