Deafness and congenital structural abnormalities
Gene: SOX10Comment 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.
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.
This gene has been classified as Green List (High Evidence).
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
Phenotypes for SOX10 were set to Vestibular/semicircular canal dysplasia
Phenotypes for SOX10 were set to estibular/semicircular canal dysplasia
Mode of inheritance for SOX10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SOX10 was created by sleigh
SOX10 was added to Deafness and congenital structural abnormalitiespanel. Sources: Eligibility statement prior genetic testing,Expert Review Amber