Hereditary Pigmentary Disorders
Gene: SOX10
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 listCreated: 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
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
Gene: sox10 has been classified as Green List (High Evidence).
Gene: sox10 has been classified as Green List (High Evidence).
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