SHOX Chromosome Y
SHOX homeobox
Upload your DNA to see your personal genotypes for variants in SHOX.
What This Gene Does
This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PRD class homeoboxes and pseudogenes|Pseudoautosomal region 1"
Locus Type
gene with protein product
Location
Xp22.33 and Yp11.32
Ensembl
ENSG00000185960
Associated Conditions (6)
Leri-Weill dyschondrosteosis
SHOX-related short stature
SHOX-related disorder
Langer mesomelic dysplasia syndrome
Connective tissue disorder
Nonpapillary renal cell carcinoma
Key Variants
RS1030279647
Conflicting classifications of pathogenicity
Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
Health Risk
RS1339856351
Conflicting classifications of pathogenicity
Health Risk
RS146304983
Conflicting classifications of pathogenicity
SHOX-related short stature, SHOX-related short stature, SHOX-related short stature
Health Risk
RS1603285352
Conflicting classifications of pathogenicity
SHOX-related short stature, SHOX-related short stature, SHOX-related short stature
Health Risk
RS193072890
Conflicting classifications of pathogenicity
SHOX-related disorder, SHOX-related disorder, SHOX-related disorder
Health Risk
RS193922465
Conflicting classifications of pathogenicity
Health Risk
RS2052840553
Conflicting classifications of pathogenicity
Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
Health Risk
RS376330042
Conflicting classifications of pathogenicity
Langer mesomelic dysplasia syndrome, Leri-Weill dyschondrosteosis, SHOX-related short stature
Health Risk
RS576542942
Conflicting classifications of pathogenicity
Health Risk
RS750375727
Conflicting classifications of pathogenicity
SHOX-related disorder, SHOX-related disorder, SHOX-related disorder
Health Risk
RS750638027
Conflicting classifications of pathogenicity
Health Risk
RS757845999
Conflicting classifications of pathogenicity
Langer mesomelic dysplasia syndrome, Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia syndrome
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2522102225 | Health Risk | Pathogenic | SHOX-related disorder, SHOX-related disorder, SHOX-related disorder |
| RS2522102328 | Health Risk | Pathogenic | Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis |
| RS397514461 | Health Risk | Pathogenic | Langer mesomelic dysplasia syndrome, Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia syndrome |
| RS397514462 | Health Risk | Pathogenic | Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis |
| RS746801054 | Health Risk | Pathogenic | Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis |
| RS752208304 | Health Risk | Pathogenic | Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis |
| RS765251991 | Health Risk | Pathogenic | Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis |
| RS778921118 | Health Risk | Pathogenic | SHOX-related short stature, SHOX-related short stature, SHOX-related short stature |
| RS137852557 | Health Risk | Pathogenic/Likely pathogenic | Langer mesomelic dysplasia syndrome, Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia syndrome |
| RS1569493663 | Health Risk | Pathogenic/Likely pathogenic | Langer mesomelic dysplasia syndrome, Langer mesomelic dysplasia syndrome, Leri-Weill dyschondrosteosis |
| RS201157428 | Health Risk | Pathogenic/Likely pathogenic | Leri-Weill dyschondrosteosis, SHOX-related short stature, Leri-Weill dyschondrosteosis |
| RS2052711401 | Health Risk | Pathogenic/Likely pathogenic | SHOX-related short stature, SHOX-related short stature, SHOX-related short stature |
| RS2124165256 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS757391565 | Health Risk | Pathogenic/Likely pathogenic | Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis |