PCWH syndrome: genes and variants
PCWH syndrome is linked to 1 analyzed protein (SOX10). 4 DNA variants are known to cause it; 13 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to PCWH syndrome
SOX10: Transcription factor SOX-10
4 disease-causing and 13 uncertain variants in SOX10 are linked to PCWH syndrome.
Known disease-causing variants in PCWH syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SOX10 S135N | 135 | HMG box | Disease-causing (★★) |
| SOX10 R161C | 161 | HMG box | Disease-causing (★★) |
| SOX10 A132G | 132 | HMG box | Disease-causing (★) |
| SOX10 W142S | 142 | HMG box | Disease-causing |
Same protein, different disease
- Waardenburg syndrome is also caused by SOX10 variants; they fall partly in the same places as the PCWH syndrome variants (23 disease-causing).
Diseases related to PCWH syndrome
- Rare genetic deafness, also linked to SOX10
- Waardenburg syndrome, also linked to SOX10
Frequently asked questions
Which genes are linked to PCWH syndrome?
In CATVariant, PCWH syndrome is linked to 1 analyzed protein: SOX10 (Transcription factor SOX-10).
How many genetic variants are linked to PCWH syndrome?
35 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 13 are of uncertain significance or have conflicting reports.
Which uncertain variants in PCWH syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center