Paediatric pseudo-obstruction syndrome

Gene: SOX10

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.

Panel Version: 0.216

Comment on list classification: This gene should be rated GREEN as this gene has been implicated in Hirschsprung disease and/ or chronic intestinal pseudo-obstruction (CIPO) from at least five unrelated cases.

PMID:12189494 reports five patients with the type IV Waardenburg syndrome, which is characterised by the association of Waardenburg features (WS, depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). These patients harboured autosomal dominant variants in SOX10 gene.

This gene has already been associated with relevant phenotypes in both OMIM and G2P.

Created: 30 Dec 2022, 9:14 p.m. | Last Modified: 30 Dec 2022, 9:14 p.m.

Panel Version: 0.135

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PCWH syndrome, OMIM:609136; Waardenburg syndrome, type 4C, OMIM:613266

Publications

• 12189494

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Other primary PIPO with identified genetic mutations. Protein function: Not given.

Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.

Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Peripheral neuropathy with hypomyelination, sensorineural deafness and pseudo-obstruction

Publications

• 29570554
• 31848803