Lissencephaly 2; Lis2

Description

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

Clinical Features

Top most frequent phenotypes and symptoms related to Lissencephaly 2; Lis2

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Pica
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Nevus
  • Hyperreflexia
  • Myopia
And another 22 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Lissencephaly 2; Lis2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, STXBP1, TUBA1A, AMT, SLC9A6, ALDH5A1, TMLHE, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Autsim Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Cerebral Cortical Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, DCX, RAB3GAP1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, KIF1BP, ACTB, ACTG1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Lissencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Classic Lissencephaly Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBA1A, ARX, DCX, RELN, PAFAH1B1, ACTB, ACTG1, VLDLR
Specificity
13 %
Genes
100 %
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, TUBA1A, RARS2, VRK1, RELN, TUBA8, TSEN54, TUBB2B, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CHMP1A, VLDLR, CDK5, AMPD2, SEPSECS
Specificity
6 %
Genes
100 %
Comprehensive Lissencephaly Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, RXYLT1, LARGE1, B3GALNT2, DCX, RELN, PAFAH1B1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, TUBA1A, RARS2, VRK1, RELN, TUBA8, TSEN54, TUBB2B, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CHMP1A, VLDLR, CDK5, AMPD2, SEPSECS
Specificity
6 %
Genes
100 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
LIS2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RELN
Specificity
100 %
Genes
100 %
Comprehensive Brain Malformations Panel.

By GeneDx in United States.

TUBB3, INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Cortical Brain Malformations Panel.

By GeneDx in United States.

TUBB3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, ARFGEF2, DCX, NDE1, PQBP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, SRPX2, TUBB2B , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Lissencephaly Panel.

By GeneDx in United States.

ATP6V0A2, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, PAFAH1B1, ACTB , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

RAF1, ALG8, MPI, PMM2, BRAF, GJC2, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MET, GATA2, RELN, HGF , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
RELN. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RELN
Specificity
100 %
Genes
100 %
CHOP Epilepsy Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, ALDH7A1, TPP1, CLN3, WWOX, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Lissencephaly 2 (Norman-Roberts type, sequence analysis of RELN gene).

By CGC Genetics in Portugal.

RELN
Specificity
100 %
Genes
100 %
Lissencephaly (NGS panel for 12 genes).

By CGC Genetics in Portugal.

TUBA1A, ARX, POMT2, POMT1, DCX, NDE1, RELN, PAFAH1B1, CDK5, KATNB1, LAMB1, YWHAE
Specificity
9 %
Genes
100 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ADSL, POLG, MECP2, GAMT, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
Lissencephaly with Cerebellar Hypoplasia via the RELN Gene.

By PreventionGenetics PreventionGenetics in United States.

RELN
Specificity
100 %
Genes
100 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, UBE3A, PTEN, ADSL, MFRP, NDP, MECP2, GAMT, GATM, STXBP1, MAOA, SLC9A6, SGSH, ARX, BRAF, CDKL5, CHD7, DHCR7, FOXG1, KRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Lissencephaly and related disorders NGS test.

By Connective Tissue Gene Tests in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Lissencephaly and related disorders Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Lissencephaly and related disorders Comprehensive test.

By Connective Tissue Gene Tests in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Lissencephaly core Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1, CDK5, KATNB1, LAMB1, TMTC3
Specificity
10 %
Genes
100 %
Lissencephaly core Comprehensive test.

By Connective Tissue Gene Tests in United States.

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1, CDK5, KATNB1, LAMB1, TMTC3
Specificity
10 %
Genes
100 %
Lissencephaly core NGS test.

By Connective Tissue Gene Tests in United States.

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1, CDK5, KATNB1, LAMB1, TMTC3
Specificity
10 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Lissencephaly.

By MGZ Medical Genetics Center in Germany.

TUBA1A, DCX, RELN, PAFAH1B1, TUBB2B, TUBG1, KIF2A
Specificity
15 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Lissencephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1, YWHAE
Specificity
15 %
Genes
100 %
Lissencephaly type 2.

By Centogene AG - the Rare Disease Company in Germany.

RELN
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Dystonia Plus Syndrome Panel.

By CeGaT GmbH in Germany.

SPR, TH, GCH1, SGCE, ATP1A3, RELN, TAF1, KIF1C, TUBB4A, FTL, PRKRA, COX20, BCAP31, SLC30A10
Specificity
8 %
Genes
100 %
Dystonia.

By Asper Biogene Asper Biogene LLC in Estonia.

ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, ADSL, HPRT1, NHS, MECP2, SLC6A8, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, PCDH19, PTPN11, RAI1, HDAC8, TSC2, RAD21, SMC3 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Lissencephaly 2.

By Praxis fuer Humangenetik Wien in Austria.

RELN
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
Lissencephaly 2.

By MedGene in Slovakia.

RELN
Specificity
100 %
Genes
100 %
LISSENCEPHALY.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1, YWHAE
Specificity
15 %
Genes
100 %
Autism.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

UBE3A, CACNA1F, MECP2, SLC25A12, ARX, PCDH19, CACNA1H, GABRB3, RELN, NRXN1, CNTNAP2, SHANK3, PTCHD1, FOXP2, CACNA1C, HOXA1, NLGN4X, NLGN3, RPL10, CNTN4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Lissencephaly 2: RELN Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RELN
Specificity
100 %
Genes
100 %
Lissencephaly 2: RELN Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RELN
Specificity
100 %
Genes
100 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders: Tier 2 Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ALDH5A1, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Brain Malformations: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Brain Malformations: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Lissencephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TUBA1A, ARX, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, DCX, RELN, PAFAH1B1, ACTB, ACTG1, VLDLR
Specificity
8 %
Genes
100 %
RELN.

By Fulgent Genetics Fulgent Genetics in United States.

RELN
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Lissencephaly Panel.

By Blueprint Genetics in Finland.

ATP6V0A2, TUBA1A, ARX, FKTN, POMT1, ISPD, POMGNT2, LARGE1, DCX, RELN, PAFAH1B1, TUBB2B, ACTB, ACTG1, VLDLR, KATNB1, TUBG1, LAMB1, YWHAE
Specificity
6 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Neuronal Migration Disorder Panel.

By Blueprint Genetics in Finland.

TUBB3, ATP6V0A2, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, PHGDH, L1CAM, DYNC1H1, POMT1, ISPD, LAMA2, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
Idiopathic Generalized and Focal Epilepsy Panel.

By Blueprint Genetics in Finland.

AMACR, POLG, ALDH7A1, SLC2A1, SCN1A, CASR, KCNA1, CACNB4, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B, SLC6A1, KCNT1, KCNQ2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Lissencephaly syndrome, type 2.

By Bioarray in Spain.

RELN
Specificity
100 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
LISSENCEPHALY NORMAN-ROBERTS TYPE.

By Laboratorio de Genetica Clinica SL in Spain.

RELN
Specificity
100 %
Genes
100 %
Lissencephaly Type 2 (Norman-Roberts Type) , Sequencing RELN Gene.

By Reference Laboratory Genetics in Spain.

RELN
Specificity
100 %
Genes
100 %
Lissencephaly, Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

TUBA1A, ARX, DCX, NDE1, RELN, PAFAH1B1
Specificity
17 %
Genes
100 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes.

By Reference Laboratory Genetics in Spain.

TUBB3, TUBA1A, ARX, FOXG1, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, LARGE1, ASPM, COL4A1, ARFGEF2, DCX, NDE1, RELN, TUBA8 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %

Alternate names

Lissencephaly 2; Lis2 Is also known as lissencephaly syndrome, norman-roberts type, norman-roberts syndrome;microlissencephaly type a.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF USHER SYNDROME, TYPE IIIA; USH3A SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE

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