Aliases: LZTR-1, BTBD29.
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 |
|---|---|---|
| Neurofibromatosis | causative |
mechanism: Composite 22q SMARCB1/LZTR1 and NF2 Inactivation; Germline Tumor Suppressor Inactivation (First Hit)
subtype: Schwannomatosis
scoped to subtype: Schwannomatosis
|
| Noonan Syndrome | causative |
mechanism: LZTR1-Mediated RAS Proteostasis Defect
subtype: NS10; NS2
animal model: Mouse
scoped to subtype: NS10, NS2
|
| Schwannoma | causative | |
| Schwannomatosis | causative |
mechanism: Germline SMARCB1 or LZTR1 Loss of Function (First Hit); LZTR1-CUL3 Substrate Adaptor Dysfunction
subtype: LZTR1-related
|
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 |
|---|---|---|---|
| LZTR1-related schwannomatosis MONDO:0014299 | AD | Definitive 2025-08-21 |
Schwannomatosis
causative
|
| Noonan syndrome MONDO:0018997 | AD | Definitive 2020-04-23 |
Noonan Syndrome
causative
|
| Noonan syndrome MONDO:0018997 | AR | Definitive 2020-08-27 |
Noonan Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.