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Klinische FragestellungMikrozephalie mit Polymikrogyrie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Mikrozephalie bei Polymikrogyrie mit 11 Leitlinien-kuratierten sowie insgesamt 15 kuratierten Genen gemäß klinischem Verdacht
ID
MP1229
Anzahl Gene
12
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
35,7 kb (Core-/Core-canditate-Gene)
42,4 kb (Erweitertes Panel: inkl. additional genes)
42,4 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 |
|---|---|---|---|---|
| ADGRG1 | 2064 | NM_005682.7 | AR | |
| DYNC1H1 | 13941 | NM_001376.5 | AD | |
| POMGNT1 | 1983 | NM_017739.4 | AR | |
| RAB18 | 621 | NM_021252.5 | AR | |
| RAB3GAP1 | 2946 | NM_012233.3 | AR | |
| RAB3GAP2 | 4182 | NM_012414.4 | AR | |
| TUBA1A | 1356 | NM_006009.4 | AD | |
| TUBB | 1335 | NM_178014.4 | AD | |
| TUBB2B | 1338 | NM_178012.5 | AD | |
| TUBB3 | 1353 | NM_006086.4 | AD | |
| WDR62 | 4572 | NM_001083961.2 | AR | |
| RTTN | 6681 | NM_173630.4 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Heterogene Gruppe zerebraler Kortikalisfehlbildungen: exzessive kortikale Faltung, abnorme kortikale Schichtung, abhängig von topographischer Verteilung, variable Kombinationen neurologischer Symptome, unterschiedlicher Schweregrad, Epilepsie, Entwicklungsverzögerung, intellektuelle Behinderung, motorische Dysfunktion (Spastizität), pseudobulbäre Lähmung
Synonyme
- Alias: Microcephaly combined with polymicrogyria
- Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
- Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
- Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
- Allelic: Migraine, familial basilar (ATP1A2)
- Allelic: Migraine, familial hemiplegic, 2 (ATP1A2)
- Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
- Allelic: Retinitis pigmentosa 76 (POMGNT1)
- Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
- Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
- Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
- Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
- Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
- Developmental + epileptic encephalopathy 98 (ATP1A2)
- Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria + dysmorphic facies (ATP1A2)
- Lissencephaly 3 (TUBA1A1)
- Martsolf syndrome (RAB3GAP2)
- Mental retardation, AD 13 (DYNC1H1)
- Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
- Microcephaly 5, primary, AR (ASPM)
- Microcephaly, short stature, polymicrogyria with seizures (RTTN)
- Muscular dystrophy-dystroglycanopathy (congenital with brain + eye anomalies), type A, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 (POMGNT1)
- Neurodevelopmental disorder, microcephaly, cortical malformations + spasticity (TMX2)
- Warburg micro syndrome 1 (RAB3GAP1)
- Warburg micro syndrome 2 (RAB3GAP2)
- Warburg micro syndrome 3 (RAB18)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q02
Bioinformatik und klinische Interpretation
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