Familial Hirschsprung Disease

Gene: SOX2

Red List (low evidence)

SOX2 (SRY-box 2)
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 19 panels

2 reviews

Erwin Brosens (Erasmus MC)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked SOX2 as ready: August 3rd 2017. Red review plus no direct evidence for role of SOX2 in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 3:04 p.m.
Added 'cnv' tag based on PMID:21712996, which shows CNVs at SOX2 locus that show association with HSCR in combination with other congenital anomalies.
Created: 5 Jun 2017, 1:46 p.m.

History Filter Activity

18 Oct 2017, Gel status: 1

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.

18 Oct 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SOX2 was changed to Unknown

3 Aug 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

5 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SOX2 was created by rfoulger

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SOX2 was added to Familial Hirschsprung Diseasepanel. Sources: Literature