Familial Hirschsprung Disease

Gene: SOX10

Green List (high evidence)

SOX10 (SRY-box 10)
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 16 panels

3 reviews

Erwin Brosens (Erasmus MC)

Green List (high evidence)

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

Rebecca Foulger (Genomics England curator)

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.

Sumita Chhabra (University of Liverpool / Alder Hey Children's Hospital)

animal model confirmation. functional test confirming deleterious variants
Created: 8 May 2017, 10:36 a.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
  • Alder Hey - Erasmus MC
Phenotypes
  • Waardenburg syndrome with Hirschsprung disease (WS4C), 613266
  • PCWH syndrome, 609136 (includes Hirschsprung disease, long-segment)
  • Waardenburg syndrome, type 4C, 613266
  • Waardenburg Syndrome
  • PCWH Syndrome
OMIM
602229
Clinvar variants
Variants in SOX10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Oct 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

3 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

3 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

6 Jun 2017, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

SOX10 was added to Familial Hirschsprung Diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services

6 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

SOX10 was added to Familial Hirschsprung Diseasepanel. Source: Radboud University Medical Center, Nijmegen

1 Jun 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SOX10 were set to 28543993; 28544110; 28390600

1 Jun 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SOX10 were set to 28543993; 28544110

1 Jun 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SOX10 were set to 28543993

18 May 2017, Gel status: 0

Upload gene information

Rebecca Foulger (Genomics England curator)

SOX10 was added to Familial Hirschprungs Diseasepanel. Sources: Other

18 May 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SOX10 were set to Waardenburg syndrome with Hirschsprung disease (WS4C), 613266; PCWH syndrome, 609136 (includes Hirschsprung disease, long-segment)

8 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SOX10 was created by rfoulger

8 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SOX10 was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC