Hereditary Pigmentary Disorders

Gene: SOX10

Green List (high evidence)

SOX10 (SRY-box 10)
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 15 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Heterozygous loss-of-function variants in this gene cause Waardenburg syndrome, which is characterised by deafness and pigmentation anomalies of eyes, hair, and skin.
Sources: Expert list
Created: 31 May 2025, 1:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Waardenburg syndrome type 4C MONDO:0013202

Publications

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease associations.
Created: 6 Apr 2022, 9:33 p.m. | Last Modified: 6 Apr 2022, 9:33 p.m.
Panel Version: 0.12656

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kallman syndrome; PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)

Publications

History Filter Activity

31 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

31 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

31 May 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SOX10 was added gene: SOX10 was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX10 were set to 9462749; 18348274; 27863645; 24735604; 27240497; 24311220 Phenotypes for gene: SOX10 were set to Waardenburg syndrome type 4C MONDO:0013202 Review for gene: SOX10 was set to GREEN gene: SOX10 was marked as current diagnostic