Aliases: DOM, WS4, WS2E, SOX-10.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| SOX10 Neurocristopathy Spectrum | causative germline |
mechanism: NMD-escaping truncated SOX10 protein; Reduced SOX10-MITF and SOX10-RET regulatory programs; SOX10 haploinsufficiency arm; SOX10 neural crest and glial lineage dysfunction
subtype: PCWH Syndrome; Waardenburg Syndrome Type 2E; Waardenburg Syndrome Type 4C
|
| Hirschsprung Disease |
untyped
Germline Mutations
|
|
| PCWH syndrome |
untyped
Causal heterozygous pathogenic variant causing severe SOX10-related neurocristopathy
|
mechanism: NMD-escaping truncated SOX10 protein; SOX10 developmental dysfunction
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Waardenburg syndrome type 4C MONDO:0013202 | AD | Definitive 2018-06-19 |
SOX10 Neurocristopathy Spectrum
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.