Deafness and congenital structural abnormalities
Gene: SOX10EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Multiple cases for Waardenburg syndrome, type 2E, with or without neurologic involvement reported in OMIM for different variants. This is a green gene on the Congenital hearing impairment (profound/severe) Version 1.6.Created: 14 Oct 2016, 12:59 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Vestibular/semicircular canal dysplasia
- PCWH syndrome
- Waardenburg syndrome, type 2E, with or without neurologic involvement
- Waardenburg syndrome, type 4C
- OMIM
- 602229
- Clinvar variants
- Variants in SOX10
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Deafness and congenital structural abnormalities
- DDG2P
- Hypogonadotropic hypogonadism (GMS)
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Inherited white matter disorders
- Differences in sex development
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hypogonadotropic hypogonadism
- Monogenic hearing loss
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SOX10 were set to Vestibular/semicircular canal dysplasia;PCWH syndrome;Waardenburg syndrome, type 2E, with or without neurologic involvement;Waardenburg syndrome, type 4C
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SOX10 were set to Vestibular/semicircular canal dysplasia
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SOX10 were set to estibular/semicircular canal dysplasia
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SOX10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created
Sarah Leigh (Genomics England Curator)SOX10 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)SOX10 was added to Deafness and congenital structural abnormalitiespanel. Sources: Eligibility statement prior genetic testing,Expert Review Amber