English
Klinische FragestellungRASopathien, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes panel für RASopathien, Differentialdiagnose, mit 11 "core"-Genen sowie insgesamt 24 kuratierten Genen bezogen auf die klinische Fragestellung
ID
RP7789
Anzahl Gene
24
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
48,4 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| BRAF | 2301 | NM_004333.6 | AD | |
| CBL | 2721 | NM_005188.4 | AD | |
| GPC3 | 1743 | NM_004484.4 | XLR | |
| HRAS | 570 | NM_005343.4 | AD | |
| KRAS | 567 | NM_004985.5 | AD | |
| LZTR1 | 2523 | NM_006767.4 | AD, AR | |
| MAP2K1 | 1182 | NM_002755.4 | AD | |
| MAP2K2 | 1203 | NM_030662.4 | AD | |
| MRAS | 636 | NM_001085049.3 | AD | |
| NF1 | 8457 | NM_001042492.3 | AD | |
| NF2 | 1788 | NM_000268.4 | AD | |
| NRAS | 570 | NM_002524.5 | AD | |
| PPP1CB | 350 | NM_002709.3 | AD | |
| PTPN11 | 1782 | NM_002834.5 | AD | |
| RAF1 | 1947 | NM_002880.4 | AD | |
| RASA2 | 2550 | NM_006506.5 | AR | |
| RIT1 | 660 | NM_006912.6 | AD | |
| RRAS2 | 384 | NM_012250.6 | AD | |
| SHOC2 | 1749 | NM_007373.4 | AD | |
| SOS1 | 4002 | NM_005633.4 | AD | |
| SOS2 | 3999 | NM_006939.4 | AD | |
| SPRED1 | 1335 | NM_152594.3 | AD | |
| SPRED2 | 1257 | NM_181784.3 | AR | |
| SYNGAP1 | 4032 | NM_006772.3 | AD |
Infos zur Erkrankung
Synonyme
- Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
- Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
- Allelic: Fibromatosis, gingival, 1 (SOS1)
- Allelic: Juvenile myelomonocytic leukemia (CBL)
- Allelic: Leukemia, juvenile myelomonocytic (NF1)
- Allelic: Metachondromatosis (PTPN11)
- Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
- Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
- Cardiofaciocutaneous syndrome (BRAF)
- Cardiofaciocutaneous syndrome 2 (KRAS)
- Cardiofaciocutaneous syndrome 3 (MAP2K1)
- Cardiofaciocutaneous syndrome 4 (MAP2K2)
- Costello syndrome (HRAS)
- Intellectual developmental disorder, AD 5 (SYNGAP1)
- LEOPARD syndrome 1 (PTPN11)
- LEOPARD syndrome 2 (RAF1)
- LEOPARD syndrome 3 (BRAF)
- Legius syndrome (SPRED1)
- Neurofibromatosis, familial spinal (NF1)
- Neurofibromatosis, type 1 (NF1)
- Neurofibromatosis, type 2 (NF2)
- Neurofibromatosis-Noonan syndrome (NF1)
- Noonan syndrome 1 (PTPN11)
- Noonan syndrome 10 (LZTR1)
- Noonan syndrome 11 (MRAS)
- Noonan syndrome 12 (RRAS2)
- Noonan syndrome 14 (SPRED2)
- 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 disorder +/- juvenile myelomonocytic leukemia (CBL)
- Noonan syndrome-like disorder with loose anagen hair 1 (SHOC2)
- Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
- Noonan syndrome? (RASA2)
- Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
- Watson syndrome (NF1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
Kein Text hinterlegt