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 0.239	1 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 1.3512	1 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 1.19 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 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 0.346	1 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 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Langer mesomelic dysplasia, 249700 (3)
Green SHOX in Growth failure Version 1.83	1 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 1.465	1 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 2.14	1 review	Other	Sources Expert Review Amber Mackenzie's Mission Phenotypes Langer mesomelic dysplasia, 249700 (3) Tags SV/CNV