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  2. Osteogenesis imperfecta
  3. SOX9
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Osteogenesis imperfecta

Gene: SOX9

No list
SOX9 (SRY-box 9)
EnsemblGeneIds (GRCh38): ENSG00000125398
EnsemblGeneIds (GRCh37): ENSG00000125398
OMIM: 608160, Gene2Phenotype
SOX9 is in 10 panels

3 reviews

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

Red List (low evidence)

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 Campomelic Dysplasia as opposed to the Osteogenesis Imperfecta phenotype.
Created: 14 Dec 2015, 10:05 a.m.
Created: 14 Dec 2015, 10:05 a.m.

Panel version: 0

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

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

Panel version: 0

Details

Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Disproportionate Short Stature
Tags
curated_removed
OMIM
608160
Clinvar variants
Variants in SOX9
Penetrance
Complete
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: SOX9.

16 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)

SOX9 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory