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Klinische FragestellungCortex-Malformationen, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Cortex-Malformationen mit zusammen genommen 114 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
CP9952
Anzahl Gene
70 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Core-canditate-Gene)
198,2 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
ACTB1128NM_001101.5AD
ACTG11128NM_001614.5AD
ADGRG12064NM_005682.7AR
AKT31440NM_005465.7AD
ARFGEF25358NM_006420.3AR
ASPM10434NM_018136.5AR
ATP1A33042NM_152296.5AD
B3GALNT21503NM_152490.5AR
CCND2870NM_001759.4AD
CDK134711NM_003718.5AD
CRPPA1356NM_001101426.4AR
CSNK2A11545NM_001895.4AD
DAG12688NM_004393.6AR
DCX1083NM_178153.3XL
DYNC1H113941NM_001376.5AD
EMX2759NM_004098.4AD
FKRP1488NM_024301.5AR
FKTN1386NM_001079802.2AR
FLNA7920NM_001456.4XL
GPSM22055NM_013296.5AR
KATNB11968NM_005886.3AR
KIF2A2235NM_001098511.3AD
KIF5C2874NM_004522.3AD
KIFBP1866NM_015634.4AR
LAMB15361NM_002291.3AR
LAMC34728NM_006059.4AR
LARGE12271NM_004737.7AR
MACF116293NM_012090.5AD
MAPK8IP34339NM_001040439.2AD
MTOR7650NM_004958.4AD
NDE11008NM_001143979.2AR
NEDD4L2868NM_015277.6AD
NSRP11995NM_001261467.2AR
OCLN1569NM_002538.4AR
OSGEP1019NM_017807.4AR
PAFAH1B11233NM_000430.4AD
PEX13852NM_000466.3AR
PEX101041NM_153818.2AR
PEX11B780NM_003846.3AR
PEX121080NM_000286.3AR
PEX131212NM_002618.4AR
PEX141134NM_004565.3AR
PEX161011NM_004813.4AR
PEX19900NM_002857.4AR
PEX2918NM_000318.3AR
PEX26918NM_017929.6AR
PEX31122NM_003630.3AR
PEX51920NM_001131025.2AR
PEX62943NM_000287.4AR
PEX7972NM_000288.4AR
PIK3CA3207NM_006218.4AD
PIK3R22187NM_005027.4AD
POMGNT11983NM_017739.4AR
POMGNT21743NM_032806.6AR
POMT12244NM_007171.4AR
POMT22253NM_013382.7AR
PTEN1212NM_000314.8AD
RAB3GAP24182NM_012414.4AR
RELN10383NM_005045.4AR
RTTN6681NM_173630.4AR
RXYLT11355NM_014254.3AR
SMO2364NM_005631.5AD
SNAP29777NM_004782.4AR
TUBA1A1356NM_006009.4AD
TUBB1335NM_178014.4AD
TUBB2A1338NM_001069.3AD
TUBB2B1338NM_178012.5AD
TUBB31353NM_006086.4AD
TUBG11356NM_001070.5AD
WDR624572NM_001083961.2AR

Infos zur Erkrankung

Synonyme
  • Alias: Kortikale Dysplasie
  • 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)
  • Agenesis of corpus callosum, cardiac, ocular + genital syndrome (CDH2)
  • Allelic: Cowden syndrome 1 (PTEN)
  • Allelic: Gastrointestinal defects and immunodeficiency syndrome 2 (PI4KA)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Meningioma (PTEN)
  • Allelic: Mitral valve prolapse 2 (DCHS1)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • Arrhythmogenic right ventricular dysplasia, familial, 14 (CDH2)
  • Band heterotopia (EML1)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG1)
  • Bryant-Li-Bhoj neurodevelopmental syndrome 1 (H3-3A)
  • CAPOS syndrome (ATP1A3)
  • 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)
  • Ciliary dyskinesia, primary, 47, and lissencephaly (TP73)
  • 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 dysplasia, complex, with other brain malformations 9 (CTNNA2)
  • Cortical malformations, occipital (LAMC3)
  • Developmental + epileptic encephalopathy 98 (ATP1A2)
  • Developmental and epileptic encephalopathy 101 (GRIN1)
  • Developmental and epileptic encephalopathy 27 (GRIN2B)
  • Developmental and epileptic encephalopathy 62 (SCN3A)
  • Developmental and epileptic encephalopathy 99 (ATP1A3)
  • Dystonia-12 (ATP1A3)
  • Epilepsy, familial focal, with variable foci 1 (DEPDC5)
  • Epilepsy, familial focal, with variable foci 2 (NPRL2)
  • Epilepsy, familial focal, with variable foci 3 (NPRL3)
  • Epilepsy, familial focal, with variable foci 4 (SCN3A)
  • 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, AD 6, +/- seizures (GRIN2B)
  • Intellectual developmental disorder, AR 34, with variant lissencephaly (CRADD)
  • Intellectual developmental disorder, AR 74 (APC2)
  • Intellectual developmental disorder, AR 75, neuropsychiatric features/variant lissencephaly (PIDD1)
  • Intellectual developmental disorder, microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Intellectual developmental disorder, with/-out nystagmus (CASK)
  • Lhermitte-Duclos disease (PTEN)
  • 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)
  • Macrocephaly/autism syndrome (PTEN)
  • Martsolf syndrome 1 (RAB3GAP2)
  • Martsolf syndrome 2 (RAB3GAP1)
  • 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)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 13 (B4GAT1)
  • Neurodevelopmental disorder +/- hyperkinetic movements, seizures, AD (GRIN1)
  • Neurodevelopmental disorder +/- hyperkinetic movements, seizures, AR (GRIN1)
  • Neurodevelopmental disorder +/- variable brain abnormalities (MAPK8IP3)
  • Neurodevelopmental disorder with spasticity, seizures + brain abnormalities (NSRP1)
  • Okur-Chung neurodevelopmental syndrome (CSNK2A1)
  • Orofaciodigital syndrome [MONDO:0015375] (TBC1D32)
  • 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 8 (ARF1)
  • Periventricular nodular heterotopia 9 (MAP1B)
  • Peroxisome biogenesis disorder 1A [Zellweger] (Pex1)
  • Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
  • Polymicrogyria, bilateral frontoparietal + bilateral perisylvian (ADGRG1)
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
  • Proud syndrome (ARX)
  • Pseudo-TORCH syndrome 1 (OCLN)
  • Ritscher-Schinzel syndrome 4 (DPYSL5)
  • Schizencephaly (EMX2)
  • Smith-Kingsmore syndrome (MTOR)
  • Spastic paraplegia 84, AR (PI4KA)
  • Subcortical laminal heterotopia, XL (DCX)
  • Subcortical laminar heterotopia (PAFAH1B1)
  • Van Maldergem syndrome 1 (DCHS1)
  • Warburg micro syndrome 1 (RAB3GAP1)
  • Warburg micro syndrome 2 (RAB3GAP2)
  • Warburg micro syndrome 3 (RAB18)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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