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Short stature - SHOX deficiency

Gene: SHOX

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #12730, #249700 & #300582) and the OMIM records were last accessed on 29 December 2025.
Created: 29 Dec 2025, 1:03 p.m. | Last Modified: 29 Dec 2025, 1:03 p.m.
Panel Version: 1.2
SHOX has been added to the panel for R52 Short stature - SHOX deficiency with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 3:40 p.m. | Last Modified: 30 Jun 2023, 3:40 p.m.
Panel Version: 0.1

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Created: 30 Jun 2023, 3:40 p.m.
Last Modified: 30 Jun 2023, 3:40 p.m.
Panel version: 0.1

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Leri-Weill dyschondrosteosis, OMIM:127300
  • Langer mesomelic dysplasia, OMIM:249700
  • Short stature, idiopathic familial, OMIM:300582
  • SHOX-related short stature, MONDO:0010367
Tags
Pseudoautosomal region 1
OMIM
312865
Clinvar variants
Variants in SHOX
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SHOX were changed from to Leri-Weill dyschondrosteosis, OMIM:127300; Langer mesomelic dysplasia, OMIM:249700; Short stature, idiopathic familial, OMIM:300582; SHOX-related short stature, MONDO:0010367

11 Aug 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SHOX was added gene: SHOX was added to Short stature - SHOX deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal