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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 11 panels

4 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Raymond Dalgleish (University of Leicester)

Red List (low evidence)

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

Red List (low evidence)

Phenotypes
Leri-Weill dyschondrosteosis (LWD); short stature

Publications

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.

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, idiopathic familial, 300582
  • Leri-Weill dyschondrosteosis, 127300
  • Langer mesomelic dysplasia, 249700
  • Proportionate Short Stature/Small for Gestational Age
  • Disproportionate Short Stature
OMIM
312865
Clinvar variants
Variants in SHOX
Penetrance
Complete
Panels with this gene

History Filter Activity

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