English
Klinische FragestellungMeningiom, multiples, familiäres; Suszeptibilität
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 17 Genen zur umfassenden Untersuchung der genetisch bedingten Suszeptibilität für multiple familiäre Meningiome
ID
MP1298
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
9,4 kb (Core-/Core-canditate-Gene)
35,6 kb (Erweitertes Panel: inkl. additional genes)
35,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| 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 |
Infos zur Erkrankung
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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