English
Klinische FragestellungLaterale-Meningozele-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Laterale-Meningozele-Syndrom mit zusammen genommen 25 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
LP7114
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 17 |
Untersuchte Sequenzlänge
7,0 kb (Core-/Core-canditate-Gene)
48,1 kb (Erweitertes Panel: inkl. additional genes)
48,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| NOTCH3 | 6966 | NM_000435.3 | AD | |
| BRAF | 2301 | NM_004333.6 | AD | |
| FBN1 | 8616 | NM_000138.5 | AD | |
| KRAS | 567 | NM_004985.5 | AD | |
| LZTR1 | 2523 | NM_006767.4 | AD | |
| MAP2K1 | 1182 | NM_002755.4 | AD | |
| NF1 | 8457 | NM_001042492.3 | AD | |
| NRAS | 570 | NM_002524.5 | AD | |
| PTPN11 | 1782 | NM_002834.5 | AD | |
| RAF1 | 1947 | NM_002880.4 | AD | |
| RASA2 | 2550 | NM_006506.5 | AD | |
| RIT1 | 660 | NM_006912.6 | AD | |
| SMAD2 | 1404 | NM_005901.6 | AD | |
| SMAD3 | 1278 | NM_005902.4 | AD | |
| SOS1 | 4002 | NM_005633.4 | AD | |
| TGFBR1 | 1512 | NM_004612.4 | AD | |
| TGFBR2 | 1704 | NM_003242.6 | AD |
Infos zur Erkrankung
Synonyme
- Alias. Lehman syndrome
- Alias: NOTCH3-Related Lateral Meningocele Syndrome
- Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
- Allelic: Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
- Allelic: Congenital heart defects, multiple types, 8, with/_out heterotaxy (SMAD2)
- Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
- Atypical Noonan syndrome (RRAS)
- Cardiofaciocutaneous syndrome (BRAF)
- Cardiofaciocutaneous syndrome 3 (MAP2K1)
- Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
- Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (FKBP14)
- Hajdu-Cheney syndrome (NOTCH2)
- LEOPARD syndrome 3 (BRAF)
- Lateral meningocele syndrome (NOTCH3)
- Loeys-Dietz syndrome 1 (TGFBR1)
- Loeys-Dietz syndrome 2 (TGFBR2)
- Loeys-Dietz syndrome 3 (SMAD3)
- Loeys-Dietz syndrome 4 (TGFB2)
- Loeys-Dietz syndrome 5 (TGFB3)
- Loeys-Dietz syndrome 6 (SMAD2)
- Marfan syndrome (FBN1)
- Neurofibromatosis type 1 (NF1)
- Noonan syndrome (RASA2)
- Noonan syndrome 1 (PTPN11)
- Noonan syndrome 10 (LZTR1)
- Noonan syndrome 11 (MRAS)
- Noonan syndrome 2 (LZTR1)
- Noonan syndrome 3 (KRAS)
- Noonan syndrome 4 (SOS1)
- Noonan syndrome 5 (RAF1)
- Noonan syndrome 6 (NRAS)
- Noonan syndrome 7 (BRAF)
- Noonan syndrome 8 (RIT1)
- Noonan syndrome 9 (SOS2)
- Noonan syndrome-like (RRAS)
Erbgänge, Vererbungsmuster etc.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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