Familial meningioma: genes and variants
Familial meningioma is linked to 4 analyzed proteins (SMARCE1, PTEN, NF2 and SUFU). 7 DNA variants are known to cause it; 461 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Familial meningioma
SMARCE1: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
It helps SWI/SNF chromatin-remodeling complexes interact with nucleosomes and transcriptional regulators. Germline loss-of-function variants predispose to clear-cell meningiomas, often presenting at young ages or at multiple sites.
4 disease-causing and 344 uncertain variants in SMARCE1 are linked to Familial meningioma.
PTEN: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
A lipid and protein phosphatase that removes phosphate groups from signaling molecules, especially PIP3. By opposing the PI3K-AKT pathway, it limits cell growth and survival signals, and PTEN variants are associated with Cowden syndrome and multiple cancers.
3 disease-causing and 11 uncertain variants in PTEN are linked to Familial meningioma.
NF2: Merlin
Its merlin product links membrane and cytoskeletal signaling to contact-dependent growth control. Germline loss-of-function variants cause NF2-related schwannomatosis with vestibular schwannomas, meningiomas, and other nervous-system tumors.
0 disease-causing and 65 uncertain variants in NF2 are linked to Familial meningioma.
SUFU: Suppressor of fused homolog
It restrains GLI transcription factors and thereby keeps Hedgehog signaling off when pathway activation is absent. Germline loss-of-function variants predispose particularly to infant desmoplastic medulloblastoma and can also cause developmental Hedgehog-pathway phenotypes.
0 disease-causing and 37 uncertain variants in SUFU are linked to Familial meningioma.
Weakly linked (only a few uncertain records): RARA and BMPR1A.
Known disease-causing variants in Familial meningioma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SMARCE1 R105Q | 105 | HMG box | Disease-causing (★★★★) |
| PTEN Y68H | 68 | Phosphatase tensin-type | Disease-causing (★★) |
| PTEN I135K | 135 | Phosphatase tensin-type | Disease-causing (★★) |
| SMARCE1 Y73C | 73 | HMG box | Disease-causing (★) |
| SMARCE1 G101S | 101 | HMG box | Disease-causing (★) |
| PTEN V255G | 255 | C2 tensin-type | Disease-causing (★) |
| SMARCE1 Y126D | 126 | HMG box | Disease-causing (★) |
Same protein, different disease
- PTEN hamartoma tumor syndrome is also caused by PTEN variants; they fall mostly in different places as the Familial meningioma variants (147 disease-causing).
- Cowden syndrome is also caused by PTEN variants; they fall mostly in different places as the Familial meningioma variants (41 disease-causing).
- Macrocephaly-autism syndrome is also caused by PTEN variants; they fall mostly in different places as the Familial meningioma variants (13 disease-causing).
- Glioma susceptibility 1 is also caused by PTEN variants; they fall mostly in different places as the Familial meningioma variants (5 disease-causing).
Diseases related to Familial meningioma
- PTEN hamartoma tumor syndrome, also linked to PTEN
- Cowden syndrome, also linked to PTEN
- Neurofibromatosis, also linked to NF2
- Gorlin syndrome, also linked to SUFU
- Familial cancer of breast, also linked to PTEN
- Coffin-Siris syndrome, also linked to SMARCE1
- Macrocephaly-autism syndrome, also linked to PTEN
- Glioma susceptibility 1, also linked to PTEN
- Joubert syndrome, also linked to SUFU
- Prostate cancer, also linked to PTEN
- Endometrial carcinoma, also linked to PTEN
- Medulloblastoma, also linked to SUFU
Frequently asked questions
Which genes are linked to Familial meningioma?
In CATVariant, Familial meningioma is linked to 4 analyzed proteins: SMARCE1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1), PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN), NF2 (Merlin) and SUFU (Suppressor of fused homolog).
How many genetic variants are linked to Familial meningioma?
496 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 461 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial meningioma look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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