©istock.com/Andrea Obzerova
Unsere KompetenzInterdisziplinäre Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patientinnen und Patienten.

Klinische FragestellungRitscher-Schinzel-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Ritscher-Schinzel-Syndrom mit 2 "core"-Genen bzw. zusammen genommen 30 kuratierten Genen gemäß klinischer Verdachtsdiagnose

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

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
CCDC221884NM_014008.5XLR
WASHC53480NM_014846.4AR
AHI13591NM_017651.5AR
ALX1981NM_006982.3AR
ALX31032NM_006492.3AR
ALX41236NM_021926.4AD, AR
CC2D2A4863NM_001080522.2AR
CEP2907440NM_025114.4AR
CHD78994NM_017780.4AD
CSPP13666NM_024790.6AR
DPH11332NM_001383.6AR
EVC2979NM_153717.3AD, AR
EVC23927NM_147127.5AD, AR
HDAC81134NM_018486.3XL
KDM6A4206NM_021140.4XL
KMT2D16614NM_003482.4AD
MKS11680NM_017777.4AR
NIPBL8415NM_133433.4AD
NPHP12202NM_000272.5AR
RAD211896NM_006265.3AD, AR
RPGRIP1L3948NM_015272.5AR
SMC1A3702NM_006306.4XL
SMC33654NM_005445.4AD
TCTN22094NM_024809.5AR
TMEM216438NM_001173990.3AR
TMEM672988NM_153704.6AR
VPS35L3462NM_020314.7AR

Infos zur Erkrankung

Synonyme
  • Alias: 3C-Syndrom - Craniofacial features, Cerebellar defects, Cardiovascular malformations
  • 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
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

Kein Text hinterlegt