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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLissencephaly, differential diagnosis

Summary

Short information

A curated panel containing altogether 63 genes, 19 genes are guideline-curated, for the comprehensive analysis of practically all known tumor pediatric tumor entities; mutations in 15 core candidate genes cover the most frequent mutations.

ID
LP0570
Number of genes
51 Accredited laboratory test
Examined sequence length
42,4 kb (Core-/Core-canditate-Genes)
147,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ARX1689NM_139058.3XL
CDK5783NM_001164410.3AR
CRPPA1356NM_001101426.4AR
DCX1083NM_178153.3XL
DYNC1H113941NM_001376.5AD
FLNA7920NM_001456.4XL
KATNB11968NM_005886.3AR
KIF2A2235NM_001098511.3AD
NDE11008NM_001143979.2AR
PAFAH1B11233NM_000430.4AD
PIK3CA3207NM_006218.4AD
TUBA1A1356NM_006009.4AD
WDR624572NM_001083961.2AR
ACTB1128NM_001101.5AD
ACTG11128NM_001614.5AD
ADGRG12064NM_005682.7AR
ARFGEF25358NM_006420.3AR
B3GALNT21503NM_152490.5AR
B4GAT11248NM_006876.3AR
CASK2766NM_003688.3XL
CCND2870NM_001759.4AD
CEP85L2418NM_001042475.3AD
CRADD600NM_003805.5AR
CTNNA22583NM_001164883.2AR
DAG12688NM_004393.6AR
FKRP1488NM_024301.5AR
FKTN1386NM_001079802.2AR
IER3IP1249NM_016097.5AR
KIF5C2874NM_004522.3AD
LAMB15361NM_002291.3AR
LAMC34728NM_006059.4AR
MACF116293NM_012090.5AD
NEDD4L2868NM_015277.6AD
PIDD12894NM_145886.4AR
PIK3R22187NM_005027.4AD
POMGNT11983NM_017739.4AR
POMGNT21743NM_032806.6AR
POMK1053NM_032237.5AR
POMT12244NM_007171.4AR
POMT22253NM_013382.7AR
PQBP1798NM_005710.2XLR
RELN10383NM_005045.4AR
RTTN6681NM_173630.4AR
TMTC32745NM_181783.4AR
TUBA81350NM_018943.3AR
TUBB1335NM_178014.4AD
TUBB2A1338NM_001069.3AD
TUBB2B1338NM_178012.5AD
TUBB31353NM_006086.4AD
TUBG11356NM_001070.5AD
VLDLR2622NM_003383.5AR

Informations about the disease

Clinical Comment

Abnormally smooth surface of the cerebral cortex: type 1 lissencephaly + cobblestone complex (type 2): few gyri + sulci, from complete agyria to subcortical band heterotopia

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined