Aliases: merlin, ACN, SCH, BANF, merlin-1.
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 |
|---|---|---|
| Acoustic Neuroma | risk factorsomatic driver germlinesomatic |
mechanism: Biallelic NF2 Inactivation and Merlin Loss
animal model: mouse
scoped to subtype: NF2-Related, Sporadic Unilateral
|
| Neurofibromatosis | causative |
mechanism: Composite 22q SMARCB1/LZTR1 and NF2 Inactivation; Germline Tumor Suppressor Inactivation (First Hit); Merlin Loss and Hippo Dysregulation
subtype: NF2
scoped to subtype: NF2
|
| Schwannoma | causative somatic |
mechanism: Biallelic NF2 Merlin Inactivation
|
| Malignant Mesothelioma |
untyped
Somatic Mutations
somatic
|
mechanism: NF2/Merlin Inactivation
|
| Meningioma |
untyped
Recurrent tumor suppressor loss
|
mechanism: Hippo-YAP Signaling Deregulation; NF2/Merlin Loss
|
| MBD4-Related Tumor Predisposition Syndrome | no genetic record somatic loss of function |
mechanism: Somatic Biallelic NF2 Inactivation by CpG>TpG Transitions
|
| Schwannomatosis | no genetic record |
mechanism: Composite 4-Hit/3-Event 22q Inactivation; Merlin Loss and Schwann-Cell Tumorigenesis
|
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 |
|---|---|---|---|
| NF2-related schwannomatosis MONDO:0007039 | AD | Definitive 2019-02-27 |
Neurofibromatosis
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.