Deutsch
IllnessMeningioma, multiple, familial; susceptibility
Summary
Short information
A curated panel containing 17 genes for the comprehensive analysis of the genetic susceptibility for multiple familial meningiomas
ID
MP1298
Number of genes
14
Accredited laboratory test
Examined sequence length
9,4 kb (Core-/Core-canditate-Genes)
35,6 kb (Extended panel: incl. additional genes)
35,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| LZTR1 | 2523 | NM_006767.4 | AD | |
| 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
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