Gastrointestinal neuromuscular disorders

Gene: SOX10

Green List (high evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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.

Neil shah (GOSH)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

19 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SOX10 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Radboud University Medical Center, Nijmegen

31 Aug 2016, Gel status: 0


Sarah Leigh (Genomics England Curator)

SOX10 was created by sleigh