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ErkrankungCortex-Malformationen, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Cortex-Malformationen mit zusammen genommen 65 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
CP9952
Anzahl Gene
64 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
182,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTB1128AD
ACTG11128AD
ADGRG12064AR
AKT31440AD
ARFGEF25358AR
ASPM10434AR
B3GALNT21503AR
CCND2870AD
CDK134711AD
CRPPA1356AR
CSNK2A11545AD
DAG12688AR
DCX1083XL
DYNC1H113941AD
EMX2759AD
FKRP1488AR
FKTN1386AR
FLNA7920XL
GPSM22055AR
KATNB11968AR
KIF2A2235AD
KIF5C2874AD
KIFBP1866AR
LAMB15361AR
LAMC34728AR
LARGE12271AR
MACF116293AD
MTOR7650AD
NDE11008AR
NEDD4L2868AD
OCLN1569AR
OSGEP1019AR
PAFAH1B11233AD
PEX13852AR
PEX101041AR
PEX11B780AR
PEX121080AR
PEX131212AR
PEX141134AR
PEX161011AR
PEX19900AR
PEX2918AR
PEX26918AR
PEX31122AR
PEX51920AR
PEX62943AD und/oder AR
PEX7972AR
PIK3CA3207AD und/oder SMu und/oder Sus
PIK3R22187AD
POMGNT11983AR
POMGNT21743AR
POMT12244AR
POMT22253AR
RELN10383AD und/oder AR
RTTN6681AR
RXYLT11355AR
SMO2364AD
TUBA1A1356AD
TUBB1335AD
TUBB2A1338AD
TUBB2B1338AD
TUBB31353AD
TUBG11356AD
WDR624572AR

Infos zur Erkrankung

Synonyme
  • Agenesis of corpus callosum, cardiac, ocular + genital syndrome (CDH2)
  • Alias: Neuronale Migrationsstörungen
  • Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
  • Allelic: Deafness, AD 83 (MAP1B)
  • Allelic: Meningioma (MN1)
  • Allelic: Migraine, familial basilar (ATP1A2)
  • Allelic: Migraine, familial hemiplegic, 2 (ATP1A2)
  • Arrhythmogenic right ventricular dysplasia, familial, 14 (CDH2)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG1)
  • CEBALID syndrome (MN1)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cerebral dysgenesis, neuropathy, ichthyosis + palmoplantar keratoderma syndrome (SNAP29)
  • Cerebral dysgenesis, neuropathy, ichthyosis + palmoplantar keratoderma syndrome (TMX2)
  • Chudley-McCullough syndrome (GPSM2)
  • Congenital heart defects, dysmorphic facial features + intellectual developmental disorder (CDK13)
  • Cortical dysplasia, complex, with other brain malformations 10 (APC2)
  • Cortical dysplasia, complex, with other brain malformations 2 (KIF5C)
  • Cortical dysplasia, complex, with other brain malformations 3 (KIF2A)
  • Cortical malformations, occipital (LAMC3)
  • Developmental + epileptic encephalopathy 98 (ATP1A2)
  • FG syndrome 2 (FLNA)
  • FG syndrome 4 (CASK)
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, dysmorphic facies (ATP1A2)
  • Focal cortical dysplasia, type II, somatic (MTOR)
  • Genitourinary and/or/ brain malformation syndrome (PPP1R12A)
  • Heimler syndrome 1 (PEX1)
  • Heterotopia, periventricular, 1 (FLNA)
  • Hydranencephaly with abnormal genitalia (ARX)
  • Intellectual developmental disorder, AR 34, with variant lissencephaly (CRADD)
  • Intellectual developmental disorder, AR 74 (APC2)
  • Intellectual developmental disorder, microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Intellectual developmental disorder, with/-out nystagmus (CASK)
  • Lissencephaly 1 (PAFAH1B1)
  • Lissencephaly 10 (CEP85L)
  • Lissencephaly 4 [with microcephaly] (NNDE1)
  • Lissencephaly 5 (LAMB1)
  • Lissencephaly 6, with microcephaly (KATNB1)
  • Lissencephaly 9 with complex brainstem malformation (MACF1)
  • Lissencephaly, XL (DCX)
  • Lissencephaly, XL 2 (ARX)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
  • Mental retardation, AD 13 (DYNC1H1)
  • Microcephaly 5, primary, AR (ASPM)
  • Microhydranencephaly (NDE1)
  • Muscular dystrophy, cong., merosin deficient or partially deficient (LAMA2)
  • Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 7 (ISPD)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. without mental retardation, type B, 4 (FKTN)
  • Okur-Chung neurodevelopmental syndrome (CSNK2A1)
  • Pachygyria, microcephaly, developmental delay, dysmorphic facies, with/-out seizures (TUBGCP2)
  • Partington syndrome (ARX)
  • Periventricular heterotopia with microcephaly (ARFGEF2)
  • Periventricular nodular heterotopia 7 (NEDD4L)
  • Periventricular nodular heterotopia 9 (MAP1B)
  • Peroxisome biogenesis disorder 1A [Zellweger] (Pex1)
  • Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
  • Polymicrogyria, bilateral frontoparietal + bilateral perisylvian (ADGRG1)
  • Proud syndrome (ARX)
  • Pseudo-TORCH syndrome 1 (OCLN)
  • Schizencephaly (EMX2)
  • Smith-Kingsmore syndrome (MTOR)
  • Subcortical laminal heterotopia, XL (DCX)
  • Subcortical laminar heterotopia (PAFAH1B1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder SMu und/oder Sus
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q04.-

Bioinformatik und klinische Interpretation

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