English
ErkrankungNoonan-Syndrom mit multiplen Lentigines, Differentialdiagnose [obsolet: LEOPARD-S.]
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 4 Genen zur umfassenden Untersuchung der Verdachtsdiagnose LEOPARD-Syndrom
ID
LP5220
Anzahl Gene
10
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,3 kb (Core-/Basis-Gene)
22,7 kb (Erweitertes Panel)
22,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS + Sanger
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| BRAF | 2301 | AD und/oder SMu und/oder Sus | |
| MAP2K1 | 1182 | AD | |
| PTPN11 | 1782 | AD und/oder SMu | |
| RAF1 | 1947 | AD | |
| KRAS | 567 | AD und/oder SMu und/oder Sus | |
| MAP2K2 | 1203 | AD | |
| NF1 | 8457 | AD und/oder SMu und/oder Sus | |
| NRAS | 570 | AD und/oder SMu und/oder Sus | |
| RIT1 | 660 | AD | |
| SOS1 | 4002 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Lentigines, hypertrophe Kardiomyopathie, Kleinwuchs, deformierter Brustkorb + dysmorphe Gesichtszüge
Synonyme
- OBSOLETE designation: LEOPARD syndrome
- Alias: Cardiomyopathic lentiginosis
- Alias: Familial multiple lentigines syndrome
- Alias: Lentiginosis, cardiomyopathic
- Alias: Multiple lentigines syndrome
- Alias: Noonan syndrome with multiple lentigines
- Allelic: Adenocarcinoma of lung, somatic (BRAF)
- Allelic: Cardiofaciocutaneous syndrome (BRAF)
- Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
- Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
- Allelic: Colorectal cancer, somatic (BRAF)
- Allelic: Colorectal cancer, somatic (NRAS)
- Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
- Allelic: Epidermal nevus, somatic (NRAS)
- Allelic: Fibromatosis, gingival, 1 (SOS)
- Allelic: Leukemia, juvenile myelomonocytic (NF1)
- Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
- Allelic: Melanoma, malignant, somatic (BRAF)
- Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
- Allelic: Metachondromatosis (PTPN11)
- Allelic: Neurofibromatosis, familial spinal (NF1)
- Allelic: Neurofibromatosis, type 1 (NF1)
- Allelic: Neurofibromatosis-Noonan syndrome (NF1)
- Allelic: Nonsmall cell lung cancer, somatic (BRAF)
- Allelic: Noonan syndrome 1 (PTPN11)
- Allelic: Noonan syndrome 5 (RAF1)
- Allelic: Noonan syndrome 6 (NRAS)
- Allelic: Noonan syndrome 7 (BRAF)
- Allelic: Oculoectodermal syndrome, somatic (KRAS)
- Allelic: RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
- Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS, NRAS)
- Allelic: Thyroid carcinoma, follicular, somatic (NRAS)
- Cardiofaciocutaneous syndrome 3 (MAP2K1)
- Cardiofaciocutaneous syndrome 4 (MAP2K2)
- Costello syndrome (HRAS)
- LEOPARD syndrome 1 (PTPN11)
- LEOPARD syndrome 2 (RAF1)
- LEOPARD syndrome 3 (BRAF)
- Melanocytic nevus syndrome, congenital, somatic (NRAS)
- Neurocutaneous melanosis, somatic (NRAS)
- Noonan syndrome 3 (KRAS)
- Noonan syndrome 4 (SOS)
- Noonan syndrome 8 (RIT1)
- Watson syndrome (NF1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder SMu
- AD und/oder SMu und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.1
Bioinformatik und klinische Interpretation
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