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Klinische FragestellungLissenzephalie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 63 Genen, 19 Gene davon sind Leitlinien-kuratiert, zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Störungen der Lissenzephalie; Mutationen in 13 "core"- und "core candidate"-Gene erfassen die wichtigsten bzw. häufigsten Mutationen.
ID
LP0570
Anzahl Gene
50
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
40,7 kb (Core-/Core-canditate-Gene)
146,0 kb (Erweitertes Panel: inkl. additional genes)
146,0 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 |
|---|---|---|---|---|
| CDK5 | 783 | NM_001164410.3 | AR | |
| CRPPA | 1356 | NM_001101426.4 | AR | |
| DCX | 1083 | NM_178153.3 | XL | |
| DYNC1H1 | 13941 | NM_001376.5 | AD | |
| FLNA | 7920 | NM_001456.4 | XL | |
| KATNB1 | 1968 | NM_005886.3 | AR | |
| KIF2A | 2235 | NM_001098511.3 | AD | |
| NDE1 | 1008 | NM_001143979.2 | AR | |
| PAFAH1B1 | 1233 | NM_000430.4 | AD | |
| PIK3CA | 3207 | NM_006218.4 | AD | |
| TUBA1A | 1356 | NM_006009.4 | AD | |
| WDR62 | 4572 | NM_001083961.2 | AR | |
| ACTB | 1128 | NM_001101.5 | AD | |
| ACTG1 | 1128 | NM_001614.5 | AD | |
| ADGRG1 | 2064 | NM_005682.7 | AR | |
| ARFGEF2 | 5358 | NM_006420.3 | AR | |
| B3GALNT2 | 1503 | NM_152490.5 | AR | |
| B4GAT1 | 1248 | NM_006876.3 | AR | |
| CASK | 2766 | NM_003688.3 | XL | |
| CCND2 | 870 | NM_001759.4 | AD | |
| CEP85L | 2418 | NM_001042475.3 | AD | |
| CRADD | 600 | NM_003805.5 | AR | |
| CTNNA2 | 2583 | NM_001164883.2 | AR | |
| DAG1 | 2688 | NM_004393.6 | AR | |
| FKRP | 1488 | NM_024301.5 | AR | |
| FKTN | 1386 | NM_001079802.2 | AR | |
| IER3IP1 | 249 | NM_016097.5 | AR | |
| KIF5C | 2874 | NM_004522.3 | AD | |
| LAMB1 | 5361 | NM_002291.3 | AR | |
| LAMC3 | 4728 | NM_006059.4 | AR | |
| MACF1 | 16293 | NM_012090.5 | AD | |
| NEDD4L | 2868 | NM_015277.6 | AD | |
| PIDD1 | 2894 | NM_145886.4 | AR | |
| PIK3R2 | 2187 | NM_005027.4 | AD | |
| POMGNT1 | 1983 | NM_017739.4 | AR | |
| POMGNT2 | 1743 | NM_032806.6 | AR | |
| POMK | 1053 | NM_032237.5 | AR | |
| POMT1 | 2244 | NM_007171.4 | AR | |
| POMT2 | 2253 | NM_013382.7 | AR | |
| PQBP1 | 798 | NM_005710.2 | XLR | |
| RELN | 10383 | NM_005045.4 | AR | |
| RTTN | 6681 | NM_173630.4 | AR | |
| TMTC3 | 2745 | NM_181783.4 | AR | |
| TUBA8 | 1350 | NM_018943.3 | AR | |
| 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 | |
| VLDLR | 2622 | NM_003383.5 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Abnormal glatte Oberfläche der Großhirnrinde: Typ-1-Lissenzephalie + Kopfsteinpflasterkomplex (Typ 2): wenige Gyri + Sulci, von vollständiger Agyria bis zur subkortikalen Band-Heterotopie
Synonyme
- Allelic: Epileptic encephalopathy, early infantile, 1 (ARX)
- Allelic: Hydranencephaly with abnormal genitalia (ARX)
- Allelic: Mental retardation, XL 29, 32, 33, 38, 43, 52, 54, 76, 87 (ARX)
- 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, 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: Proud syndrome (ARX)
- Allelic: Retinitis pigmentosa 76 (POMGNT1)
- Allelic: Roifman syndrome (RNU4ATAC)
- Allelic: Subcortical laminal heterotopia, XL (DCX)
- Ciliary dyskinesia, primary, 47, + lissencephaly (TP73)
- Cortical dysplasia, complex, with other brain malformations 10 (APC2
- Intellectual developmental disorder, AR 74 (APC2)
- 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 [panelapp] (PIDD1)
- Lissencephaly, XL (DCX)
- Lissencephaly, XL 2 (ARX)
- Lowry-Wood syndrome (RNU4ATAC)
- Mega-corpus-callosum syndrome with cerebellar hypoplasia + cortical malformations (MAST1)
- Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
- Microcephaly 17, primary, AR (CIT)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 10 (RXYLT1)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 7 (CRPPA)
- Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 8 (POMGNT2)
- Muscular dystrophy-dystroglycanopathy, congenital with mental retardation, type B, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy, congenital with mental retardation, type B, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy, congenital with mental retardation, type B, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy, congenital with mental retardation, type B, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy, congenital with mental retardation, type B, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy, congenital with/-out mental retardation, type B, 5 (FKRP)
- Pachygyria, microcephaly, developmental delay, dysmorphic facies +/- seizures (TUGCP2)
- Polymicrodyria, lissencephaly [genereviews] (EOMES)
- Spinocerebellar ataxia 37 (DAB1)
- Subcortical laminar heterotopia (PAFAH1B1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q00.-
Bioinformatik und klinische Interpretation
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