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Osteogenesis imperfecta

Gene: SHOX2

No list

SHOX2 (short stature homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000168779
EnsemblGeneIds (GRCh37): ENSG00000168779
OMIM: 602504, Gene2Phenotype
SHOX2 is in 3 panels

3 reviews

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

Red List (low evidence)

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, 11:49 a.m.

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Remove from panel
Created: 27 Nov 2015, 3:05 p.m.


  • Expert Review Removed
  • Emory Genetics Laboratory
  • Proportionate Short Stature/Small for Gestational Age
Clinvar variants
Variants in SHOX2
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: SHOX2.

14 May 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SHOX2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory