Deutsch
IllnessLegius syndrome; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Legius syndrome comprising altogether 31 curated genes according to the clinical signs
ID
LP7113
Number of genes
30
Accredited laboratory test
Examined sequence length
1,4 kb (Core-/Core-canditate-Genes)
84,5 kb (Extended panel: incl. additional genes)
84,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| SPRED1 | 1335 | NM_152594.3 | AD | |
| BLM | 4254 | NM_000057.4 | AR | |
| BRAF | 2301 | NM_004333.6 | AD | |
| BRCA2 | 10257 | NM_000059.4 | AR | |
| BRIP1 | 3750 | NM_032043.3 | AD | |
| FANCA | 4368 | NM_000135.4 | AR | |
| FANCB | 2580 | NM_001018113.3 | XL | |
| FANCC | 1677 | NM_000136.3 | AR | |
| FANCE | 1611 | NM_021922.3 | AR | |
| FANCF | 1125 | NM_022725.4 | AR | |
| FANCG | 1869 | NM_004629.2 | AR | |
| FANCI | 3987 | NM_001113378.2 | AR | |
| GNAS | 1185 | NM_000516.7 | AD, SMu | |
| 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 | |
| MLH1 | 2271 | NM_000249.4 | AR | |
| MSH2 | 2805 | NM_000251.3 | AR | |
| MSH6 | 4083 | NM_000179.3 | AR | |
| NF1 | 8457 | NM_001042492.3 | AD | |
| NRAS | 570 | NM_002524.5 | AD | |
| PMS2 | 2589 | NM_000535.7 | AR | |
| PTEN | 1212 | NM_000314.8 | AD | |
| PTPN11 | 1782 | NM_002834.5 | AD | |
| RAF1 | 1947 | NM_002880.4 | AD | |
| RIT1 | 660 | NM_006912.6 | AD | |
| SOS1 | 4002 | NM_005633.4 | AD | |
| TSC1 | 3495 | NM_000368.5 | AD | |
| TSC2 | 5424 | NM_000548.5 | AD |
Informations about the disease
Synonyms
- Alias: Neurofibromatose 1-ähnliches Syndrom
- Alias: Neurofibromatosis 1-like syndrome
- Alias: Neurofibromatosis type 1-like syndrome (SPRED1)
- Bloom syndrome (BLM)
- Cardiofaciocutaneous syndrome 2 (KRAS)
- Cardiofaciocutaneous syndrome 3 (MAP2K1)
- Costello syndrome (HRAS)
- Fanconi anemia, complementation group A (FANCA)
- Fanconi anemia, complementation group B (FANCB)
- Fanconi anemia, complementation group C (FANCC)
- Fanconi anemia, complementation group D1 (BRCA2)
- Fanconi anemia, complementation group D2 (FANCD2)
- Fanconi anemia, complementation group E (FANCE)
- Fanconi anemia, complementation group F (FANCF)
- Fanconi anemia, complementation group G (FANCG)
- Fanconi anemia, complementation group I (FANCI)
- Fanconi anemia, complementation group J (BRIP1)
- Fibrous dysplasia/McCune-Albright syndrome (GNAS)
- LEOPARD syndrome 1 (PTPN11)
- LEOPARD syndrome 2 (RAF1)
- LEOPARD syndrome 3 (BRAF)
- Legius syndrome (SPRED1)
- Mismatch repair cancer syndrome 1 (MLH1)
- Mismatch repair cancer syndrome 2 (MSH2)
- Mismatch repair cancer syndrome 3 (MSH6)
- Mismatch repair cancer syndrome 4 (PMS2)
- Neurofibromatosis, type 1 (NF1)
- Neurofibromatosis-Noonan syndrome (NF1)
- Noonan syndrome 1 (PTPN11)
- Noonan syndrome 10 (LZTR1)
- 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)
- PTEN hamartoma tumor syndrome: Cowden, Bannayan-Riley-Ruvalcaba syndrome (PTEN)
- Tuberous sclerosis-1 (TSC1)
- Tuberous sclerosis-2 (TSC2)
Heredity, heredity patterns etc.
- AD
- AR
- SMu
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined