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IllnessMeningeom, multiples, familiäres; Suszeptibilität
Summary
Short information
A curated panel containing 7 genes for the comprehensive analysis of the genetic susceptibility for multiple familial meningiomas
ID
MP1298
Number of loci
| Loci type | Count |
|---|---|
| Gen | 13 |
Examined sequence length
6,9 kb (Core-/Core-canditate-Genes)
33,0 kb (Extended panel: incl. additional genes)
33,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| NF2 | 1788 | NM_000268.4 | AD | |
| PTEN | 1212 | NM_000314.8 | AD | |
| SMARCB1 | 1158 | NM_003073.5 | AD | |
| SMARCE1 | 1236 | NM_003079.5 | AD | |
| SUFU | 1455 | NM_016169.4 | AD | |
| APC | 8532 | NM_000038.6 | AD | |
| MLH1 | 2271 | NM_000249.4 | AR | |
| MN1 | 3963 | NM_002430.3 | AD | |
| MSH2 | 2805 | NM_000251.3 | AR | |
| MSH6 | 4083 | NM_000179.3 | AR | |
| PDGFB | 726 | NM_002608.4 | AD | |
| PMS2 | 2589 | NM_000535.7 | AD | |
| TP53 | 1182 | NM_000546.6 | AD |
Informations about the disease
Clinical Comment
illness_ClinicalComment_MP1298
Synonyms
- Alias: Familial multiple meningioma
- Alias: Meningioma, familial, susceptibility to
- Allelic: Basal cell nevus syndrome (SUFU)
- Allelic: Basal cell nevus syndrome 1 (PTCH1)
- Allelic: Basal ganglia calcification, idiopathic, 5 (PDGFB)
- Allelic: CEBALID syndrome (MN1)
- Allelic: Coffin-Siris syndrome 3 (SMARCB1)
- Allelic: Coffin-Siris syndrome 5 (SMARCE1)
- Allelic: Cowden syndrome 1 (PTEN)
- Allelic: Dermatofibrosarcoma protuberans (PDGFB)
- Allelic: Glioma susceptibility 2 (PTEN)
- Allelic: Holoprosencephaly 7 (PTCH1)
- Allelic: Joubert syndrome 32 (SUFU)
- Allelic: Lhermitte-Duclos syndrome (PTEN)
- Allelic: Macrocephaly/autism syndrome (PTEN)
- Allelic: Medulloblastoma, desmoplastic (SUFU)
- Allelic: Prostate cancer (PTEN)
- Allelic: Rhabdoid tumors, somatic (SMARCB1)
- Brain, CNS + PNS cancer [panelapp] (APC)
- Brain, CNS + PNS cancer [panelapp] (LZTR1)
- Brain, CNS + PNS cancer [panelapp] (MLH1)
- Brain, CNS + PNS cancer [panelapp] (MSH2)
- Brain, CNS + PNS cancer [panelapp] (MSH6)
- Brain, CNS + PNS cancer [panelapp] (NF2)
- Brain, CNS + PNS cancer [panelapp] (PMS2)
- Brain, CNS + PNS cancer [panelapp] (PTCH1)
- Brain, CNS + PNS cancer [panelapp] (PTEN)
- Brain, CNS + PNS cancer [panelapp] (SMARCB1)
- Brain, CNS + PNS cancer [panelapp] (SMARCE1)
- Brain, CNS + PNS cancer [panelapp] (SUFU)
- Brain, CNS + PNS cancer [panelapp] (TP53)
- Meningioma (MN1)
- Meningioma (PTEN)
- Meningioma, NF2-related, somatic (NF2)
- Meningioma, SIS-related (PDGFB)
- Meningioma, familial, susceptibility to (SMARCE1)
- Meningioma, familial, susceptibility to (SUFU)
- Neurofibromatosis, type 2 (NF2)
- Schwannomatosis, somatic (NF2)
- Schwannomatosis-1, susceptibility to (SMARCB1)
- Werner syndrome (WRN)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined