Familial Hirschsprung Disease
Gene: SOX10
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Marked SOX10 as ready: August 3rd 2017.Created: 3 Aug 2017, 9:41 a.m.
Comment on list classification: Updated rating from Amber to Green: Green expert review, confirmed DD-G2P gene for Waardenburg Syndrome, Type 4C (which includes Hirschprungs disease), >3 unrelated cases supporting causation, and animal model.Created: 3 Aug 2017, 9:41 a.m.
Confirmed DD-G2P gene for Waardenburg Syndrome, Type 4C (which includes Hirschprungs disease). >3 unrelated cases supporting causation plus animal model.Created: 1 Jun 2017, 11:35 a.m.
PMID:28390600 report a Waardenburg syndrome 4 (WS4) family in the Iranian population. Note that WS4 is diagnosed when WS2 is accompanied by Hirschsprung disease. A heterozygous variant c.422T > C in exon 3 of SOX10 was confirmed by a series of evidence to be pathogenic.Created: 1 Jun 2017, 11:26 a.m.
PMID:28544110 (2017) report a 32yr old man with a novel heterozygous missense variant in SOX10, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and sensorimotor neuropathy.Created: 1 Jun 2017, 11:12 a.m.
animal model confirmation. functional test confirming deleterious variantsCreated: 8 May 2017, 10:36 a.m.
Variants in this GENE are reported as part of current diagnostic practice
18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SOX10 was added to Familial Hirschsprung Diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
SOX10 was added to Familial Hirschsprung Diseasepanel. Source: Radboud University Medical Center, Nijmegen
Publications for SOX10 were set to 28543993; 28544110; 28390600
Publications for SOX10 were set to 28543993; 28544110
Publications for SOX10 were set to 28543993
SOX10 was added to Familial Hirschprungs Diseasepanel. Sources: Other
Phenotypes for SOX10 were set to Waardenburg syndrome with Hirschsprung disease (WS4C), 613266; PCWH syndrome, 609136 (includes Hirschsprung disease, long-segment)
SOX10 was created by rfoulger
SOX10 was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC