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)
182,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ACTB | 1128 | AD | |
ACTG1 | 1128 | AD | |
ADGRG1 | 2064 | AR | |
AKT3 | 1440 | AD | |
ARFGEF2 | 5358 | AR | |
ASPM | 10434 | AR | |
B3GALNT2 | 1503 | AR | |
CCND2 | 870 | AD | |
CDK13 | 4711 | AD | |
CRPPA | 1356 | AR | |
CSNK2A1 | 1545 | AD | |
DAG1 | 2688 | AR | |
DCX | 1083 | XL | |
DYNC1H1 | 13941 | AD | |
EMX2 | 759 | AD | |
FKRP | 1488 | AR | |
FKTN | 1386 | AR | |
FLNA | 7920 | XL | |
GPSM2 | 2055 | AR | |
KATNB1 | 1968 | AR | |
KIF2A | 2235 | AD | |
KIF5C | 2874 | AD | |
KIFBP | 1866 | AR | |
LAMB1 | 5361 | AR | |
LAMC3 | 4728 | AR | |
LARGE1 | 2271 | AR | |
MACF1 | 16293 | AD | |
MTOR | 7650 | AD | |
NDE1 | 1008 | AR | |
NEDD4L | 2868 | AD | |
OCLN | 1569 | AR | |
OSGEP | 1019 | AR | |
PAFAH1B1 | 1233 | AD | |
PEX1 | 3852 | AR | |
PEX10 | 1041 | AR | |
PEX11B | 780 | AR | |
PEX12 | 1080 | AR | |
PEX13 | 1212 | AR | |
PEX14 | 1134 | AR | |
PEX16 | 1011 | AR | |
PEX19 | 900 | AR | |
PEX2 | 918 | AR | |
PEX26 | 918 | AR | |
PEX3 | 1122 | AR | |
PEX5 | 1920 | AR | |
PEX6 | 2943 | AD und/oder AR | |
PEX7 | 972 | AR | |
PIK3CA | 3207 | AD und/oder SMu und/oder Sus | |
PIK3R2 | 2187 | AD | |
POMGNT1 | 1983 | AR | |
POMGNT2 | 1743 | AR | |
POMT1 | 2244 | AR | |
POMT2 | 2253 | AR | |
RELN | 10383 | AD und/oder AR | |
RTTN | 6681 | AR | |
RXYLT1 | 1355 | AR | |
SMO | 2364 | AD | |
TUBA1A | 1356 | AD | |
TUBB | 1335 | AD | |
TUBB2A | 1338 | AD | |
TUBB2B | 1338 | AD | |
TUBB3 | 1353 | AD | |
TUBG1 | 1356 | AD | |
WDR62 | 4572 | AR |
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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