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ErkrankungLissenzephalie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 52 Genen zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Störungen der Lissenzephalie; Mutationen in 15 Genen erfassen die häufigsten Mutationen.

ID
LP0570
Anzahl Gene
51 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,7 kb (Core-/Basis-Gene)
147,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CDK5783AR
CRPPA1356AR
DCX1083XL
FKRP1488AR
FKTN1386AR
KATNB11968AR
NDE11008AR
PAFAH1B11233AD
POMGNT11983AR
POMGNT21743AR
POMT12244AR
POMT22253AR
TMTC32745AR
TUBA1A1356AD
ACTB1128AD
ACTG11128AD
ADGRG12064AR
ARFGEF25358AR
B3GALNT21503AR
B4GAT11248AR
CASK2766XL
CCND2870AD
CEP85L2418AD
CRADD600AR
CTNNA22583AR
DAG12688AR
DYNC1H113941AD
FLNA7920XL
IER3IP1249AR
KIF2A2235AD
KIF5C2874AD
LAMB15361AR
LAMC34728AR
MACF116293AD
NEDD4L2868AD
PIDD12894AR
PIK3CA3207AD und/oder SMu und/oder Sus
PIK3R22187AD
POMK1053AR
PQBP1798XLR und/oder Impr
RELN10383AD und/oder AR
RTTN6681AR
TP731764AR
TUBA81350AR
TUBB1335AD
TUBB2A1338AD
TUBB2B1338AD
TUBB31353AD
TUBG11356AD
VLDLR2622AR
WDR624572AR

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
  • Muscular dystrophy-dystroglycanopathy, congenital with mental retardation, type B, 6 (LARGE1)
  • 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: 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)
  • 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/-out mental retardation, type B, 5 (FKRP)
  • Polymicrodyria, lissencephaly [genereviews] (EOMES)
  • Subcortical laminar heterotopia (PAFAH1B1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder SMu und/oder Sus
  • AR
  • XL
  • XLR und/oder Impr
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q00.-

Bioinformatik und klinische Interpretation

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