Familial Hirschsprung Disease

Gene: SOX10

Green List (high evidence)

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 variants

Created: 8 May 2017, 10:36 a.m.

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