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IllnessRASopathies, differential diagnosis
Summary
Short information
Comprehensive panel for RASopathies, differential diagnosis, containing 11 "core" genes abd altogether 24 curated genes according to the clinical diagnosis
ID
RP7789
Number of genes
24
Accredited laboratory test
Examined sequence length
48,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| 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 |
Informations about the disease
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined