English
ErkrankungPränatale Lissenzephalie
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Pränatale Lissenzephalie mit 20 bzw. zusammen genommen 28 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
PP0007
Anzahl Gene
27
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
60,9 kb (Core-/Basis-Gene)
73,7 kb (Erweitertes Panel)
73,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- Chorionzotten (CVS)
- Fruchtwasser (nach AC)
- Nabelschnurblut (NB)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| ACTB | 1128 | AD | |
| ACTG1 | 1128 | AD | |
| B3GALNT2 | 1503 | AR | |
| DCX | 1083 | XL | |
| FKRP | 1488 | AR | |
| FKTN | 1386 | AR | |
| KATNB1 | 1968 | AR | |
| LAMB1 | 5361 | AR | |
| MACF1 | 16293 | AD | |
| NDE1 | 1008 | AR | |
| PAFAH1B1 | 1233 | AD | |
| POMGNT1 | 1983 | AR | |
| POMGNT2 | 1743 | AR | |
| POMT1 | 2244 | AR | |
| POMT2 | 2253 | AR | |
| RELN | 10383 | AD und/oder AR | |
| TMTC3 | 2745 | AR | |
| TUBA1A | 1356 | AD | |
| WDR62 | 4572 | AR | |
| ATP6V0A2 | 2571 | AR | |
| B4GAT1 | 1248 | AR | |
| CDK5 | 783 | AR | |
| CEP85L | 2418 | AD | |
| CRADD | 600 | AR | |
| CRPPA | 1356 | AR | |
| GMPPB | 1164 | AR | |
| VLDLR | 2622 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Gesamtoberfläche/Teile des Gehirns erscheinen glatt, ohne Falten Gyri + Sulci. Verdacht kann nach >24 Schwangerschaftswochen erhoben werden. Parieto-okzipitale + sylvische Fissuren erscheinen flach, der Subarachnoidalraum ist in der Regel vergrössert. In allen Fällen von scheinbar isolierten Hirnanomalien sollte eine detaillierte Nachbeobachtung nach ~26 Wochen Lissenzephalie ausschließen. Typ I: Agyrie mit fehlender neuronaler Migration; Kortex ist glatt, dick; Typ II: ausgedehnte, ungeordnete Migration mit fehlender Schichtung; Kortex wird als Kopfsteinpflaster beschrieben.
Synonyme
- Allelic: Cardiomyopathy, dilated, 1X (FKTP)
- Allelic: Cutis laxa, autosomal recessive, type IIA (ATP6V0A2)
- Allelic: Deafness, AD 20/26 (ACTG1)
- Allelic: Dystonia, juvenile-onset (ACTB)
- Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
- Allelic: Hydranencephaly with abnormal genitalia (ARX)
- Allelic: Mental retardation, XL 29 + others (ARX)
- Allelic: Microhydranencephaly (NDE1)
- Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (POMT1)
- Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (GMPPB)
- Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (POMT2)
- Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
- Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTP)
- Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
- Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (CRPPA)
- Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 (POMGNT2)
- Allelic: Partington syndrome (ARX)
- Allelic: Retinitis pigmentosa 76 (POMGNT1)
- Allelic: Wrinkly skin syndrome (ATP6V0A2)
- Baraitser-Winter syndrome 1 (ACTB)
- Baraitser-Winter syndrome 2 (ACTG1)
- Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
- Epileptic encephalopathy, early infantile, 1 (ARX)
- Intellectual developmental disorder, AR 75, neuropsych. features + variant lissencephaly (PIDD1)
- Lissencephaly 1 (PAFAH1B1)
- Lissencephaly 10 (CEP85L)
- Lissencephaly 2 (Norman-Roberts type (RELN)
- Lissencephaly 3 (TUBA1A)
- Lissencephaly 4 [with microcephaly] (NDE1)
- Lissencephaly 5 (LAMB1)
- Lissencephaly 6, with microcephaly (KATNB1)
- Lissencephaly 7 with cerebellar hypoplasia (CDK5)
- Lissencephaly 8 (TMTC3)
- Lissencephaly 9 with complex brainstem malformation (MACF1)
- Lissencephaly, XL (DCX)
- Lissencephaly, XL 2 (ARX)
- Mental retardation, AR 34, with variant lissencephaly (CRADD)
- Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 1 (POMT1))
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 11 (B3GALNT2)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 13 (B4GAT1)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 4 (FKTP)
- 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 (CRPPA)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 8 (POMGNT2)
- Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 3 (POMGNT1)
- 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 (FKTP)
- Proud syndrome (ARX)
- Subcortical laminal heterotopia, XL (DCX)
- Subcortical laminar heterotopia (PAFAH1B1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q04.-
Bioinformatik und klinische Interpretation
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