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Limb disorders

Gene: SHOX

Green List (high evidence)

SHOX (short stature homeobox)
EnsemblGeneIds (GRCh38): ENSG00000185960
EnsemblGeneIds (GRCh37): ENSG00000185960
OMIM: 312865, Gene2Phenotype
SHOX is in 12 panels

5 reviews

Eleanor Williams (Genomics England Curator)

Would be good to update the mode of inheritance to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
Created: 12 Dec 2019, 12:02 p.m. | Last Modified: 12 Dec 2019, 12:02 p.m.
Panel Version: 2.0

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Features include mesomelia owing to shortening, and perhaps bowing, of the radius and ulna. In addition to mutations, a large proportion of the ascertained cases to date have had deletions on the X-chromosome within the pseudo-autosomal region.
Created: 11 May 2017, 2:02 p.m.

Rebecca Foulger (Genomics England curator)

Mode of Inheritance sourced from OMIM: Langer mesomelic dysplasia, 249700 (LMD) is due to homozygous defect in SHOX. Leri-Weill dyschondrosteosis, 127300 (LWD) is due to a heterozygous mutation in SHOX or by deletion of the SHOX downstream regulatory region. Hence mode-of-inheritance marked as both biallelic and monoallelic.
Created: 5 Dec 2016, 9:49 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:51 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 1:08 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Expert Review Green
  • Other
  • Langer mesomelic dysplasia, 249700
  • dorsolateral bowed, short radii
  • bowing of the radius
  • curved radius
  • radioulnar shortening
  • Leri-Weill dyschondrosteosis, 127300
Pseudoautosomal region 1
Clinvar variants
Variants in SHOX
Panels with this gene

History Filter Activity

4 Nov 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Pseudoautosomal region 1 tag was added to gene: SHOX.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

16 Oct 2018, Gel status: 4

Added New Source, Set Phenotypes

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to SHOX. Added phenotypes Langer mesomelic dysplasia, 249700; dorsolateral bowed, short radii; bowing of the radius; curved radius; radioulnar shortening; Leri-Weill dyschondrosteosis, 127300 for gene: SHOX

16 Oct 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: SHOX was added gene: SHOX was added to Limb disorders. Sources: Other 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; radioulnar shortening; bowing of the radius; Leri-Weill dyschondrosteosis, 127300