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Gastrointestinal neuromuscular disease

Gene: SOX10

Green List (high evidence)
SOX10 (SRY-box 10)
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease. Gut dysmotility and pseudo-obstruction. More than 10 unrelated individuals reported with this phenotype.

Variants in SOX10 also cause isolated Hirschsprung disease.
Created: 30 Jul 2021, 8:20 a.m. | Last Modified: 30 Jul 2021, 8:20 a.m.
Panel Version: 0.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PCWH syndrome, MIM# 609136

Publications

Created: 30 Jul 2021, 8:20 a.m.
Last Modified: 30 Jul 2021, 8:20 a.m.
Panel version: 0.51

History Filter Activity

30 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox10 has been classified as Green List (High Evidence).

30 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOX10 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX10 were changed from Waardenburg syndrome w/pigmentary abnormalities to PCWH syndrome, MIM# 609136

30 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOX10 were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SOX10 was added gene: SOX10 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SOX10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOX10 were set to Waardenburg syndrome w/pigmentary abnormalities