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)
198,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ACTB | 1128 | NM_001101.5 | AD | |
ACTG1 | 1128 | NM_001614.5 | AD | |
ADGRG1 | 2064 | NM_005682.7 | AR | |
AKT3 | 1440 | NM_005465.7 | AD | |
ARFGEF2 | 5358 | NM_006420.3 | AR | |
ASPM | 10434 | NM_018136.5 | AR | |
ATP1A3 | 3042 | NM_152296.5 | AD | |
B3GALNT2 | 1503 | NM_152490.5 | AR | |
CCND2 | 870 | NM_001759.4 | AD | |
CDK13 | 4711 | NM_003718.5 | AD | |
CRPPA | 1356 | NM_001101426.4 | AR | |
CSNK2A1 | 1545 | NM_001895.4 | AD | |
DAG1 | 2688 | NM_004393.6 | AR | |
DCX | 1083 | NM_178153.3 | XL | |
DYNC1H1 | 13941 | NM_001376.5 | AD | |
EMX2 | 759 | NM_004098.4 | AD | |
FKRP | 1488 | NM_024301.5 | AR | |
FKTN | 1386 | NM_001079802.2 | AR | |
FLNA | 7920 | NM_001456.4 | XL | |
GPSM2 | 2055 | NM_013296.5 | AR | |
KATNB1 | 1968 | NM_005886.3 | AR | |
KIF2A | 2235 | NM_001098511.3 | AD | |
KIF5C | 2874 | NM_004522.3 | AD | |
KIFBP | 1866 | NM_015634.4 | AR | |
LAMB1 | 5361 | NM_002291.3 | AR | |
LAMC3 | 4728 | NM_006059.4 | AR | |
LARGE1 | 2271 | NM_004737.7 | AR | |
MACF1 | 16293 | NM_012090.5 | AD | |
MAPK8IP3 | 4339 | NM_001040439.2 | AD | |
MTOR | 7650 | NM_004958.4 | AD | |
NDE1 | 1008 | NM_001143979.2 | AR | |
NEDD4L | 2868 | NM_015277.6 | AD | |
NSRP1 | 1995 | NM_001261467.2 | AR | |
OCLN | 1569 | NM_002538.4 | AR | |
OSGEP | 1019 | NM_017807.4 | AR | |
PAFAH1B1 | 1233 | NM_000430.4 | AD | |
PEX1 | 3852 | NM_000466.3 | AR | |
PEX10 | 1041 | NM_153818.2 | AR | |
PEX11B | 780 | NM_003846.3 | AR | |
PEX12 | 1080 | NM_000286.3 | AR | |
PEX13 | 1212 | NM_002618.4 | AR | |
PEX14 | 1134 | NM_004565.3 | AR | |
PEX16 | 1011 | NM_004813.4 | AR | |
PEX19 | 900 | NM_002857.4 | AR | |
PEX2 | 918 | NM_000318.3 | AR | |
PEX26 | 918 | NM_017929.6 | AR | |
PEX3 | 1122 | NM_003630.3 | AR | |
PEX5 | 1920 | NM_001131025.2 | AR | |
PEX6 | 2943 | NM_000287.4 | AR | |
PEX7 | 972 | NM_000288.4 | AR | |
PIK3CA | 3207 | NM_006218.4 | AD | |
PIK3R2 | 2187 | NM_005027.4 | AD | |
POMGNT1 | 1983 | NM_017739.4 | AR | |
POMGNT2 | 1743 | NM_032806.6 | AR | |
POMT1 | 2244 | NM_007171.4 | AR | |
POMT2 | 2253 | NM_013382.7 | AR | |
PTEN | 1212 | NM_000314.8 | AD | |
RAB3GAP2 | 4182 | NM_012414.4 | AR | |
RELN | 10383 | NM_005045.4 | AR | |
RTTN | 6681 | NM_173630.4 | AR | |
RXYLT1 | 1355 | NM_014254.3 | AR | |
SMO | 2364 | NM_005631.5 | AD | |
SNAP29 | 777 | NM_004782.4 | AR | |
TUBA1A | 1356 | NM_006009.4 | AD | |
TUBB | 1335 | NM_178014.4 | AD | |
TUBB2A | 1338 | NM_001069.3 | AD | |
TUBB2B | 1338 | NM_178012.5 | AD | |
TUBB3 | 1353 | NM_006086.4 | AD | |
TUBG1 | 1356 | NM_001070.5 | AD | |
WDR62 | 4572 | NM_001083961.2 | AR |
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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