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ErkrankungRitscher-Schinzel-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Ritscher-Schinzel-Syndrom mit 2 bzw. zusammen genommen 27 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
RP5559
Anzahl Gene
27 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
5,4 kb (Core-/Basis-Gene)
101,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CCDC221884XLR
WASHC53480AD und/oder AR
AHI13591AR
ALX1981AR
ALX31032AR
ALX41236AD und/oder AR
CC2D2A4863AR
CEP2907440AR und/oder Dig
CHD78994AD und/oder Impr
CSPP13666AR
DPH11332AR
EVC2979AD und/oder AR
EVC23927AD und/oder AR
HDAC81134XLD
KDM6A4206XLD und/oder Impr
KMT2D16614AD und/oder SMu und/oder Sus und/oder Impr
MKS11680AR
NIPBL8415AD und/oder Impr
NPHP12202AR
RAD211896AD und/oder AR und/oder SMu und/oder Impr
RPGRIP1L3948AR
SMC1A3702XLD und/oder Impr
SMC33654AD und/oder SMu und/oder Impr
TCTN22094AR
TMEM216438AR
TMEM672988AR
VPS35L3462AR

Infos zur Erkrankung

Synonyme
  • Alias: 3C-Syndrom
  • Alias: Dysplasie, kardiale kraniozerebelläre
  • Allelic: Craniosynostosis 5, susceptibility to (ALX4)
  • Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Allelic: Leber congenital amaurosis 10 (CEP290)
  • Allelic: Nephronophthisis 11 (TMEM67)
  • Allelic: Parietal foramina 2 (ALX4)
  • Allelic: Spastic paraplegia 8, AD (WASHC5)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • CHARGE syndrome (CHD7)
  • COACH syndrome 1 (TMEM67)
  • COACH syndrome 2 (CC2D2A)
  • COACH syndrome 3 (RPGRIP1L)
  • Cornelia de Lange syndrome 1 (NNIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Developmental and epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Developmental delay with short stature, dysmorphic facial features, sparse hair (DPH1)
  • Ellis-van Creveld syndrome (EVC)
  • Ellis-van Creveld syndrome (EVC2)
  • Frontonasal dysplasia 2 (ALX4)
  • Frontonasal dysplasia 3 (ALX1)
  • Joubert syndrome 1 (INPP5E)
  • Joubert syndrome 17 (CPLANE1)
  • Joubert syndrome 2 (TMEM216)
  • Joubert syndrome 21 (CSPP1)
  • Joubert syndrome 23 (KIAA0586)
  • Joubert syndrome 24 (TCTN2)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 3 (AHI)
  • Joubert syndrome 4 (NPHP1)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 9 (CC2D2A)
  • Kabuki syndrome 1 (KMT2D)
  • Kabuki syndrome 2 (KDM6A)
  • Loucks-Innes syndrome (DPH1)
  • Meckel syndrome 1 (MKS1)
  • Meckel syndrome 2 (TMEM216)
  • Meckel syndrome 3 (TMEM67)
  • Meckel syndrome 4 (CEP290)
  • Meckel syndrome 5 (RPGRIP1L)
  • Meckel syndrome 6 (CC2D2A)
  • Meckel syndrome 8 (TCTN2)
  • Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
  • Mungan syndrome (RAD21)
  • Nephronophthisis 1, juvenile (NPHP1)
  • Orofaciodigital syndrome VI (CPLANE1)
  • RHYNS syndrome (TMEM67)
  • Ritscher-Schinzel syndrome 1 (WASHC5)
  • Ritscher-Schinzel syndrome 2 (CCDC22)
  • Ritscher-Schinzel syndrome 3 (VPS35L syn. C16orf62)
  • Senior-Loken syndrome 6 (CEP290)
  • Senior-Loken syndrome-1 (NPHP1)
  • Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
  • Weyers acrofacial dysostosis (EVC)
  • Weyers acrofacial dysostosis (EVC2)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Impr
  • AD und/oder Impr
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Sus und/oder Impr
  • AR
  • AR und/oder Dig
  • XLD
  • XLD und/oder Impr
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatik und klinische Interpretation

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