Gastrointestinal neuromuscular disordersGene: SOX10
Comment on list classification: Promoted from red to green due to expert review. At least 8 reports for variants in patients with Waardenburg syndrome, type 4C 613266, and this is a confirmed DD gene for this phenotype.
Created: 19 Oct 2016, 1:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
SOX10 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
SOX10 was created by sleigh