Previous symbols: CTNNB. Aliases: beta-catenin, armadillo.
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 |
|---|---|---|
| Adrenal Cortex Adenoma | somatic driver somatic |
mechanism: Wnt Beta-Catenin Pathway Activation
subtype: Aldosterone-Producing; Non-Functioning
scoped to subtype: Non-Functioning
|
| Cerebral Palsy | causative de novo | |
| CTNNB1 Neurodevelopmental Disorder | causative loss of function |
mechanism: CTNNB1 Loss-of-Function and Beta-Catenin Haploinsufficiency
animal model: Mouse
|
| Desmoid Tumor | somatic driver somatic |
mechanism: CTNNB1 Exon 3 Activating Mutation; Constitutive Activation of the Wnt-beta-catenin Axis
|
| Familial Exudative Vitreoretinopathy | causative |
mechanism: Impaired Norrin/beta-catenin signaling in retinal endothelium
subtype: CTNNB1-FEVR
scoped to subtype: CTNNB1-FEVR
|
| Primary Aldosteronism | somatic driver somatic |
mechanism: Constitutive Wnt Signalling from Stabilized Beta-Catenin
subtype: APA
scoped to subtype: APA
|
| Testicular Sex Cord-Stromal Neoplasm | somatic driver somatic |
mechanism: Wnt/Beta-Catenin Pathway Activation
subtype: Sertoli Cell Tumor
|
| Wilms Tumor | somatic driver somatic |
mechanism: CTNNB1 Activating Mutation
|
| WT1-Related Wilms Tumor Predisposition | cooperating somatic gain of function |
mechanism: Somatic CTNNB1 Activation
|
| Autism Spectrum Disorder |
untyped
Risk Factor
|
|
| Craniopharyngioma |
untyped
Somatic activating mutation in adamantinomatous craniopharyngioma
|
mechanism: CTNNB1-Wnt ACP Tumor Signaling
|
| Endometrial Carcinoma |
untyped
Somatic activating mutation
|
mechanism: CTNNB1 WNT Pathway Activation
|
| Endometrial Endometrioid Adenocarcinoma |
untyped
Recurrent somatic WNT pathway driver alteration
somatic
|
mechanism: CTNNB1 WNT Pathway Activation
|
| Gallbladder Cancer |
untyped
Somatic Gain-of-Function Mutation
|
|
| Hepatoblastoma |
untyped
Somatic Activating Mutation
|
|
| Hepatocellular Carcinoma |
untyped
Somatic Activating Mutation
|
|
| Medulloblastoma, WNT-Activated |
untyped
Somatic Mutation
|
|
| Ovarian Endometrioid Carcinoma |
untyped
Activating somatic mutation
|
mechanism: Wnt-Beta-Catenin Pathway Activation
|
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 |
|---|---|---|---|
| CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy MONDO:0100571 | AD | Definitive 2024-02-08 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.