SOX10 Chromosome 22
SRY-box transcription factor 10
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What This Gene Does
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SRY-box transcription factors
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000100146
Associated Conditions (23)
PCWH syndrome
Hearing impairment
Waardenburg syndrome
SOX10-related disorder
Waardenburg syndrome type 2E
Waardenburg syndrome type 4C
Charcot-Marie-Tooth disease
Melanoma
Waardenburg syndrome type 2A
Waardenburg syndrome type 1
Inborn genetic diseases
Hirschsprung disease
susceptibility to
1
Aganglionic megacolon
Rare genetic deafness
without neurologic involvement
Waardenburg syndrome type 4A
Hypogonadism with anosmia
Deafness with anatomical inner ear anomalies
+3 more conditions
Key Variants
RS1407535458
Conflicting classifications of pathogenicity
Health Risk
RS142113652
Conflicting classifications of pathogenicity
PCWH syndrome, Hearing impairment, Waardenburg syndrome
Health Risk
RS1439127307
Conflicting classifications of pathogenicity
Health Risk
RS150327222
Conflicting classifications of pathogenicity
Health Risk
RS1555939439
Conflicting classifications of pathogenicity
PCWH syndrome, Waardenburg syndrome type 2E, Waardenburg syndrome type 4C
Health Risk
RS1569171143
Conflicting classifications of pathogenicity
Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
Health Risk
RS1932464492
Conflicting classifications of pathogenicity
Waardenburg syndrome type 2E, SOX10-related disorder, Waardenburg syndrome type 2E
Health Risk
RS200226880
Conflicting classifications of pathogenicity
Waardenburg syndrome, PCWH syndrome, Waardenburg syndrome
Health Risk
RS200475773
Conflicting classifications of pathogenicity
SOX10-related disorder, SOX10-related disorder
Health Risk
RS2145768498
Conflicting classifications of pathogenicity
Health Risk
RS2518041799
Conflicting classifications of pathogenicity
Health Risk
RS372400283
Conflicting classifications of pathogenicity
Health Risk
All Variants (161)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS940482154 | Health Risk | Pathogenic | PCWH syndrome, PCWH syndrome |
| RS1064796049 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS1555937390 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS1555937400 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 4C, SOX10-related disorder, Waardenburg syndrome type 4C |
| RS1555938395 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Waardenburg syndrome type 2E, SOX10-related disorder |
| RS1555939408 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Waardenburg syndrome type 2E, Rare genetic deafness |
| RS1555939564 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 2A, Waardenburg syndrome type 4C, Waardenburg syndrome type 2A |
| RS1601878540 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 2E, PCWH syndrome, Waardenburg syndrome type 4C |
| RS2145761047 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 2E, Monogenic hearing loss, Waardenburg syndrome type 2E |
| RS2145768544 | Health Risk | Pathogenic/Likely pathogenic | Deafness with anatomical inner ear anomalies, PCWH syndrome, Waardenburg syndrome type 2E |
| RS74315515 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 2E, without neurologic involvement, PCWH syndrome |