Craniosynostosis

Gene: SOX6

Red List (low evidence)

SOX6 (SRY-box 6)
EnsemblGeneIds (GRCh38): ENSG00000110693
EnsemblGeneIds (GRCh37): ENSG00000110693
OMIM: 607257, Gene2Phenotype
SOX6 is in 2 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Balanced translocation in a patient with CSS disrupts SOX6 (Tagariello et al 2005).Further case identified with missense change (inherited). ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
No disease association on OMIM

Eleanor Williams (Genomics England Curator)

I don't know

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: SOX6; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Details

Sources
  • NHS GMS
OMIM
607257
Clinvar variants
Variants in SOX6
Penetrance
None
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: SOX6 was added gene: SOX6 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: SOX6 was set to