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)
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
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
AP1S2 | 474 | NM_003916.5 | XLR | |
BLTP1 | 15018 | NM_015312.4 | AR | |
CDKN1C | 951 | NM_000076.2 | AD | |
FOXC1 | 1662 | NM_001453.3 | AD | |
ZIC1 | 1344 | NM_003412.4 | AD | |
ASXL1 | 4626 | NM_015338.6 | AD | |
ATP6V0A2 | 2571 | NM_012463.4 | AR | |
B3GLCT | 1497 | NM_194318.4 | AR | |
CCDC22 | 1884 | NM_014008.5 | XLR | |
CHD7 | 8994 | NM_017780.4 | AD | |
CPT2 | 1977 | NM_000098.3 | AD, AR | |
DHCR7 | 1428 | NM_001360.3 | AR | |
EBP | 693 | NM_006579.3 | XL | |
EXOC3L2 | 1261 | NM_001382422.1 | AR | |
KMT2D | 16614 | NM_003482.4 | AD | |
LAMC1 | 4830 | NM_002293.4 | AD | |
MID1 | 2004 | NM_000381.4 | XLR | |
NID1 | 3744 | NM_002508.3 | AR | |
OFD1 | 3039 | NM_003611.3 | XL | |
PANK2 | 1713 | NM_153638.4 | AR | |
PIGN | 2796 | NM_176787.5 | AR | |
PMM2 | 741 | NM_000303.3 | AR | |
TBC1D24 | 1680 | NM_001199107.2 | AR | |
WASHC5 | 3480 | NM_014846.4 | AR | |
ZIC4 | 1005 | NM_032153.6 | isolierte 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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