Previous symbols: PHP.
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 |
|---|---|---|
| 46,XX testicular disorder of sex development | causative de novo |
mechanism: Ectopic SOX3 expression
subtype: SRXX3
scoped to subtype: SRXX3
|
| Isolated Growth Hormone Deficiency | causative |
mechanism: SOX3 Dosage Alteration
subtype: Type III
|
| Chromosome Xq Duplication | untyped |
mechanism: SOX3 Overdosage
subtype: Xq25-q26; Xq26.3-q27.1 (SOX3)
|
| Split Hand-Foot Malformation | no genetic record |
mechanism: Apical Ectodermal Ridge Maintenance Failure
subtype: X-linked SHFM
|
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 |
|---|---|---|---|
| SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder MONDO:0800474 | XL | Moderate 2026-06-15 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.