GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: SHOX

SHOX (short stature homeobox)
EnsemblGeneIds (GRCh38): ENSG00000185960
EnsemblGeneIds (GRCh37): ENSG00000185960
OMIM: 312865, Gene2Phenotype
SHOX is in 10 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mesomelic and rhizo-mesomelic dysplasias gp of SD - many cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Langer mesomelic dysplasia 249700; Leri-Weill dyschondrosteosis 127300; Short stature, idiopathic familial 300582

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Langer mesomelic dysplasia 249700
Short stature, idiopathic familial 300582
Leri-Weill dyschondrosteosis 127300

OMIM

312865

Clinvar variants

Variants in SHOX

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SHOX was added gene: SHOX was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia 249700; Short stature, idiopathic familial 300582; Leri-Weill dyschondrosteosis 127300

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: SHOX