IllnessPrenatal Dandy-Walker malformation, differential diagnosis
Summary
Short information
A curated panel containing 5 and altogether 43 genes for the comprehensive analysis of the suspected Prenatal Dandy-Walker syndrome
ID
PP0017
Number of genes
23
Accredited laboratory test
Examined sequence length
19,5 kb (Core-/Core-canditate-Genes)
84,0 kb (Extended panel: incl. additional genes)
84,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- Amniotic fluid (after amnocentesis)
- Chorionic villus
- Umbilical cord blood
Diagnostic indications
NGS +
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
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 | |
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 |
Informations about the disease
Clinical Comment
Association of 3 signs: hydrocephalus, partial/complete absence of cerebellar vermis, posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput, posterior fossa signs like cranial nerve palsies, nystagmus, ataxia
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
- isolierte Fälle
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q04.-
Bioinformatics and clinical interpretation
No text defined