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  3. SHOX
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Osteogenesis imperfecta

Gene: SHOX

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

4 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Raymond Dalgleish (University of Leicester)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Phenotypes
Leri-Weill dyschondrosteosis (LWD); short stature

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Christine Burren (University Hospitals Bristol NHS Foundation Trust)

Red List (low evidence)

This gene is associated with Short Stature Syndromes as opposed to the Osteogenesis Imperfecta phenotype.
Created: 14 Dec 2015, 10:06 a.m.
Created: 14 Dec 2015, 10:06 a.m.

Panel version: 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

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

8 Dec 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SHOX were changed from Short stature, idiopathic familial, 300582; Leri-Weill dyschondrosteosis, 127300; Langer mesomelic dysplasia, 249700; Proportionate Short Stature/Small for Gestational Age; Disproportionate Short Stature 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: 1

Added Tag

Ivone Leong (Genomics England Curator)

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

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SHOX was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SHOX was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen