Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: SOX10

SOX10 (SRY-box 10)
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Can't find any association on genereviews. On Blueprint genetics CSS panel ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Peripheral demyelinating neuropathy; central dysmyelination; Waardenburg syndrome; Hirschsprung disease

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

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: SOX10; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Sources

NHS GMS

Phenotypes

Hirschsprung disease
Waardenburg syndrome
Peripheral demyelinating neuropathy
central dysmyelination

OMIM

602229

Clinvar variants

Variants in SOX10

Penetrance

None

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Hirschsprung disease; Waardenburg syndrome; Peripheral demyelinating neuropathy; central dysmyelination for gene: SOX10

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: SOX10 was added gene: SOX10 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: SOX10 was set to

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: SOX10