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Skeletal dysplasia
Gene: SHOX

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

4 reviews

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, 11:44 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, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

Comment on mode of inheritance: 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, 12:03 p.m. | Last Modified: 12 Dec 2019, 12:03 p.m.

Panel Version: 1.292

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SHOX; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

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.

Created: 27 Jul 2016, 9:51 a.m.

Panel version: 0.704

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

Phenotypes
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

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

Panel version: 0.4

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
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen

Phenotypes

Langer mesomelic dysplasia, OMIM:249700 (PR)
Leri-Weill dyschondrosteosis, OMIM:127300 (PD)
Short stature, idiopathic familial, OMIM:300582
Dorsolateral bowed, short radii
Bowing and curving of radius
Radioulnar shortening

Tags

Pseudoautosomal region 1

OMIM

312865

Clinvar variants

Variants in SHOX

Penetrance

Complete

Panels with this gene

History Filter Activity

8 Dec 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SHOX were changed from Langer mesomelic dysplasia 249700; Short stature, idiopathic familial 300582; Leri-Weill dyschondrosteosis 127300 to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582; Dorsolateral bowed, short radii; Bowing and curving of radius; Radioulnar shortening

4 Nov 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

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

12 Dec 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Langer mesomelic dysplasia 249700; Short stature, idiopathic familial 300582; Leri-Weill dyschondrosteosis 127300 for gene: SHOX

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SHOX. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4