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IllnessCherubism, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Cherubism comprising 20 curated genes according to the clinical signs

ID
CP6961
Number of genes
20 Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
43,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SH3BP21686NM_001122681.2AD
BRAF2301NM_004333.6AD
CASR3237NM_000388.4AD
CDC731596NM_024529.5AD
GCM21521NM_004752.4AD, AR
GNAS1185NM_000516.7; NM_016592.3; NM_080425.3AD
KRAS567NM_004985.5AD
LZTR12523NM_006767.4AD, AR
MAP2K11182NM_002755.4AD
MAP2K21203NM_030662.4AD
MEN11833NM_130799.2AD
NF18457NM_001042492.3AD
NRAS570NM_002524.5AD
PTPN111782NM_002834.5AD
RAF11947NM_002880.4AD
RASA22550NM_006506.5AD
RIT1660NM_006912.6AD
RRAS657NM_006270.5AD
SOS14002NM_005633.4AD
SOS23999NM_006939.4AD

Informations about the disease

Synonyms
  • Alias: Familial benign giant-cell tumor of the jaw
  • Alias: Familial fibrous dysplasia of jaw
  • Alias: Familial multilocular cystic disease of the jaws
  • Atypical Noonan syndrome (RRAS)
  • Cardiofaciocutaneous syndrome 3 (MAP2K1)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Cherubism (SH3BP2)
  • Hyperparathyroidism 4 (GCM2)
  • Hyperparathyroidism, familial primary (CDC73)
  • Hyperparathyroidism, neonatal (CASR)
  • Hyperparathyroidism-jaw tumor syndrome (CDC73)
  • Hypoparathyroidism, familial isolated 2 (GGCM2)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • LEOPARD syndrome 3 (BRAF)
  • McCune-Albright syndrome, somatic, mosaic (GNAS)
  • Melorheostosis, isolated, somatic mosaic (MAP2K1)
  • Multiple endocrine neoplasia 1 (MEN1)
  • 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 Noonan syndrome 6 (NRAS)
  • Noonan syndrome 7 (BRAF)
  • Noonan syndrome 8 (RIT1)
  • Noonan syndrome 9 (SOS2)
  • Osseous heteroplasia, progressive (GNAS)
  • Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
  • Pseudopseudohypoparathyroidism (GNAS)
  • Rasopathy (RASA2)
  • Watson syndrom (NF1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined