NF2 (merlin) germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-NF2-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | NF2 (мерлін) germline патогенний варіантNF2 germline pathogenic variant |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-MENINGIOMA |
| Sources | SRC-NCCN-CNS-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "NF2", "gene_hugo_id": "HGNC:7773", "variant_type": "missense_or_truncating"} |
| Related biomarkers | BIO-NF2 |
Notes
NF2 germline — drives Neurofibromatosis Type 2 (distinct from NF1). Hallmark: bilateral vestibular schwannomas (pathognomonic). Spectrum also includes multiple intracranial / spinal meningiomas, spinal schwannomas, ependymomas, juvenile cataracts. Surveillance: brain + spine MRI, audiology. Bevacizumab off-label for vestibular-schwannoma hearing preservation. STUB pending two-Co-Lead signoff.
Used By
Actionability
BMA-NF2-GERMLINE-VESTIBULAR-SCHWANNOMA- NF2 germline pathogenic variants drive Neurofibromatosis Type 2 (NF2 / NF2- related schwa...