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Klinische FragestellungPränatale Dandy-Walker-Malformation, Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 5 "core candidate"-Genen sowie zusammen genommen 43 Genen zur umfassenden Untersuchung der Verdachtsdiagnose Pränatales Dandy-Walker-Syndrom

ID
PP0017
Anzahl Gene
25 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
19,5 kb (Core-/Core-canditate-Gene)
86,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • Chorionzotten (CVS)
  • Fruchtwasser (nach AC)
  • Nabelschnurblut (NB)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
AP1S2474NM_003916.5XLR
BLTP115018NM_015312.4AR
CDKN1C951NM_000076.2AD
FOXC11662NM_001453.3AD
ZIC11344NM_003412.4AD
ASXL14626NM_015338.6AD
ATP6V0A22571NM_012463.4AR
B3GLCT1497NM_194318.4AR
CCDC221884NM_014008.5XLR
CHD78994NM_017780.4AD
CPT21977NM_000098.3AD, AR
DHCR71428NM_001360.3AR
EBP693NM_006579.3XL
EXOC3L21261NM_001382422.1AR
KMT2D16614NM_003482.4AD
LAMC14830NM_002293.4AD
MID12004NM_000381.4XLR
NID13744NM_002508.3AR
OFD13039NM_003611.3XL
PANK21713NM_153638.4AR
PIGN2796NM_176787.5AR
PMM2741NM_000303.3AR
TBC1D241680NM_001199107.2AR
WASHC53480NM_014846.4AR
ZIC41005NM_032153.6isolierte Fälle

Infos zur Erkrankung

Klinischer Kommentar

Assoziation von 3 Symptomen: Hydrozephalus, partielles/komplettes Fehlen Kleinhirnwurm, posteriore Fossazyste angrenzend an 4. Ventrikel, früher Hydrozephalus, betontes Okziput, Zeichen der hinteren Fossa wie Hirnnervenlähmung, Nystagmus, Ataxie

 

Synonyme
  • Sympt.: Hypoplasia + upward rotation of cerebellar vermis, cystic dilation 4.th ventricle
  • Alias: Dandy-Walker complex
  • Alias: [Isolated] Dandy-Walker malformation
  • Allelic: Deafness, AD 65 + AR 86 (TBC1D24)
  • Allelic: Developmental + epileptic encephalopathy 16 (TBC1D24)
  • Allelic: Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
  • Allelic: Focal segmental glomerulosclerosis 10 (LMX1B)
  • Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Allelic: Myoclonic epilepsy, infantile, familial (TBC1D24)
  • Allelic: Nephronophthisis 13 (WDR19)
  • Allelic: Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Allelic: Retinitis pigmentosa 80 (IFT140)
  • Allelic: Retinitis pigmentosa 81 (IFT43)
  • Allelic: Spastic paraplegia 8, AD (WASHC5)
  • Alkuraya-Kucinskas syndrome (KIAA1109)
  • Axenfeld-Rieger syndrome, type 3 (FOXC1)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Bohring-Opitz syndrome (ASXL1)
  • CHARGE syndrome (CHD7)
  • CPT II deficiency, lethal neonatal + infantile (CPT2)
  • Chondrodysplasia punctata, XLD (EBP)
  • Coffin-Siris syndrome 1 (ARID1B
  • Congenital disorder of glycosylation, type Ia (PMM2)
  • Cranioectodermal dysplasia (IFT122)
  • Cranioectodermal dysplasia 2 (WDR35)
  • Cranioectodermal dysplasia 3 (IFT43)
  • Cranioectodermal dysplasia 4 (WDR19)
  • Cutis laxa, AR, type IIA (ATP6V0A2)
  • DOORS syndrome (TBC1D24)
  • Dandy-Walker association (LAMC1)
  • Dandy-Walker association (NID1)
  • Dandy-Walker malformation [panelapp] (EXOC3L2)
  • Developmental delay with short stature, dysmorphic facial features, sparse hair (DPH1)
  • Ellis-van Creveld syndrome (EVC)
  • Ellis-van Creveld syndrome (EVC2)
  • Fumarase deficiency (FH)
  • HARP syndrome (PANK2)
  • Hydrocephalus, focal epilepsy + hemiparesis [?panelapp] (NID1)
  • Joubert syndrome 10 (OFD1)
  • Kabuki syndrome 1 (KMT2D)
  • Leiomyomatosis + renal cell cancer (FH)
  • Luscan-Lumish syndrome (SETD2)
  • MEND syndrome (EBP)
  • Mental retardation, XL syndromic 5 (AP1S2)
  • Molybdenum cofactor deficiency A (MOCS1)
  • Molybdenum cofactor deficiency B (MOCS2)
  • Molybdenum cofactor deficiency C (GPHN)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
  • Nail-patella syndrome (LMX1B)
  • Opitz GBBB syndrome, type I (MID1)
  • Orofaciodigital syndrome I (OFD1)
  • Peters-plus syndrome (B3GLCT)
  • Ritscher-Schinzel syndrome 1 (WASHC5)
  • Ritscher-Schinzel syndrome 2 (CCDC22)
  • Senior-Loken syndrome 8 (WDR19)
  • Short-rib thoracic dysplasia 16 with/-out polydactyly (IFT52)
  • Short-rib thoracic dysplasia 18 with polydactyly (IFT43)
  • Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
  • Short-rib thoracic dysplasia 7 with or without polydactyly (WDR35)
  • Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Structural brain anomalies with impaired intellectual development + craniosynostosis (ZIC1)
  • Weyers acrofacial dysostosis (EVC)
  • Weyers acrofacial dysostosis (EVC2)
  • White-Sutton syndrome (POGZ)
  • Wrinkly skin syndrome (ATP6V0A2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
  • isolierte Fälle
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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