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IllnessRASopathien, Differentialdiagnose

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Summary

Short information

RP7789_KI

ID
RP7789
Number of loci
Loci typeCount
Gen24
Accredited laboratory test
Examined sequence length
48,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

RP7789_DH

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BRAF2301NM_004333.6AD
CBL2721NM_005188.4AD
GPC31743NM_004484.4XLR
HRAS570NM_005343.4AD
KRAS567NM_004985.5AD
LZTR12523NM_006767.4AD, AR
MAP2K11182NM_002755.4AD
MAP2K21203NM_030662.4AD
MRAS636NM_001085049.3AD
NF18457NM_001042492.3AD
NF21788NM_000268.4AD
NRAS570NM_002524.5AD
PPP1CB350NM_002709.3AD
PTPN111782NM_002834.5AD
RAF11947NM_002880.4AD
RASA22550NM_006506.5AR
RIT1660NM_006912.6AD
RRAS2384NM_012250.6AD
SHOC21749NM_007373.4AD
SOS14002NM_005633.4AD
SOS23999NM_006939.4AD
SPRED11335NM_152594.3AD
SPRED21257NM_181784.3AR
SYNGAP14032NM_006772.3AD

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