Craniosynostosis

Gene: SOX6

Green List (high evidence)

SOX6 (SRY-box 6)
EnsemblGeneIds (GRCh38): ENSG00000110693
EnsemblGeneIds (GRCh37): ENSG00000110693
OMIM: 607257, Gene2Phenotype
SOX6 is in 3 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

Comment on mode of inheritance: All patients reported by Tolchin et al were heterozygous
Created: 25 May 2020, 2:27 p.m. | Last Modified: 25 May 2020, 2:27 p.m.
Panel Version: 2.6
Comment on list classification: 4 patients reported with genomic alterations affecting SOX6 are now reported.
Created: 25 May 2020, 2:27 p.m. | Last Modified: 25 May 2020, 2:27 p.m.
Panel Version: 2.5
PMID: 32442410 -Tolchin et al 2020 - report 3 unrelated patients (CHUP-1;406931, UK-1;412103 and UK-2;412119) with either deletion of exons 5–7 or nonsense variants (c.242C>G p.Ser81*, c.277C>T p.Arg93*). Patients had a range of phenotypes including mild to moderate intellectual disability, attention deficit/ADHD and either oxycephaly or scaphocephaly. The first two patients had de-novo variants, in the first this is unknown. 16 other patients from 14 families were also reported with variants in SOX6 but no craniosynostosis phenotype.

PMID: 16258006 - Tagariello et al 2004 - a male infant presenting at birth with brachycephaly, proptosis, midfacial hypoplasia, and low set ears. The complete coding sequence of the FGFR2 and FGFR3 genes were screened but no variants found. The P252R mutation in the FGFR1 gene was also excluded. Standard chromosome analysis revealed a de novo balanced translocation t(9;11)(q33;p15). The breakpoint on chromosome 11p15 disrupts the SOX6 gene, known to be involved in skeletal growth and differentiation processes.
Created: 25 May 2020, 2:24 p.m. | Last Modified: 25 May 2020, 2:29 p.m.
Panel Version: 2.6
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

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • craniosynostosis
OMIM
607257
Clinvar variants
Variants in SOX6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SOX6 were changed from craniosynostosis; intellectual disability to craniosynostosis

25 May 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SOX6 were changed from to craniosynostosis; intellectual disability

25 May 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SOX6 were set to

25 May 2020, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: SOX6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: sox6 has been classified as Green List (High Evidence).

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