Previous symbols: WS1. Aliases: HUP2, PAX-3.
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 |
|---|---|---|
| Anencephaly | susceptibility |
mechanism: Failure of Cranial Neuropore Closure
|
| Craniofacial-Deafness-Hand Syndrome | causative germline |
mechanism: PAX3 Paired-Domain Missense Variant
variant: 2q36.1 deletion encompassing PAX3; PAX3 c.91A>C p.Thr31Pro (T31P); PAX3 p.Asn47Lys (N47K)
animal model: Mus musculus
|
| PAX3-Related Waardenburg Syndrome | causative |
mechanism: PAX3 Loss of Function
subtype: WS1; WS3
scoped to subtype: WS1, WS3
|
| Preaxial Digit Brachydactyly-Webbed Fingers | causative germline |
mechanism: Deletion of the EPHA4-PAX3 Regulatory Boundary; Ectopic PAX3 Contacts with EPHA4 Limb Enhancers; Ectopic PAX3 Expression in the Distal Anterior Limb
|
| Alveolar Rhabdomyosarcoma |
untyped
Somatic Fusion Oncogene
somatic
|
mechanism: PAX-FOXO1 Fusion Oncogene
|
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 MONDO:0018094 | AD | Definitive 2017-11-15 |
PAX3-Related Waardenburg Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.