Lissencephaly 1; Lis1

Description

Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. (Lo Nigro et al., 1997).Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of LissencephalyLissencephaly is a genetically heterogeneous disorder. See also LIS2 (OMIM ), caused by mutation in the RELN gene (OMIM ) on chromosome 7q22; LIS3 (OMIM ), caused by mutation in the TUBA1A gene (OMIM ) on chromosome 12q13; LIS4 (OMIM ), caused by mutation in the NDE1 gene (OMIM ) on chromosome 16p13; LIS5 (OMIM ), caused by mutation in the LAMB1 gene (OMIM ) on chromosome 7q; LIS6 (OMIM ), caused by mutation in the KATNB1 gene (OMIM ) on chromosome 16q21; LIS7 (OMIM ), caused by mutation in the CDK5 gene (OMIM ) on chromosome 7q36; and LIS8 (OMIM ), caused by mutation in the TMTC3 gene (OMIM ) on chromosome 12q21.X-linked forms include LISX1 (OMIM ), caused by mutation in the DCX gene (OMIM ) on chromosome Xq22.3-q23, and LISX2 (OMIM ), caused by mutation in the ARX gene (OMIM ) on chromosome Xp22.3-p21.1.See also Miller-Dieker lissencephaly syndrome (MDLS ), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (OMIM ) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.

Clinical Features

Top most frequent phenotypes and symptoms related to Lissencephaly 1; Lis1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Strabismus
  • Abnormal facial shape
  • Spasticity
  • Ventriculomegaly
  • Cerebellar hypoplasia
And another 21 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Lissencephaly 1; Lis1 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 %
Epilepsy/Seizure.

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

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
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 %
LIS1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

PAFAH1B1
Specificity
100 %
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 %
LIS1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

PAFAH1B1
Specificity
100 %
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 %
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 %
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 %
Miller-Dieker syndrome.

By Cytogenetics Laboratory Indiana University School of Medicine in United States.

PAFAH1B1
Specificity
100 %
Genes
100 %
LIS1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PAFAH1B1
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 %
PAFAH1B1. Complete sequencing.

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

PAFAH1B1
Specificity
100 %
Genes
100 %
PAFAH1B1. MLPA testing.

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

PAFAH1B1
Specificity
100 %
Genes
100 %
Lissencephaly 1 (LIS1, sequence analysis of PAFAH1B1 gene).

By CGC Genetics in Portugal.

PAFAH1B1
Specificity
100 %
Genes
100 %
Lissencephaly 1 (deletion/duplication analysis of PAFAH1B1 gene).

By CGC Genetics in Portugal.

PAFAH1B1
Specificity
100 %
Genes
100 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics in Portugal.

SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)

View the complete list with 32 more genes
Specificity
2 %
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 %
Classic lissencephaly via the PAFAH1B1/LIS1 Gene.

By PreventionGenetics PreventionGenetics in United States.

PAFAH1B1
Specificity
100 %
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 %
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 %
Microcephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

SLC25A19, DNM1L, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
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 1.

By Centogene AG - the Rare Disease Company in Germany.

PAFAH1B1
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 %
Single gene testing PAFAH1B1.

By CeGaT GmbH in Germany.

PAFAH1B1
Specificity
100 %
Genes
100 %
Test for LIS1-Associated Lissencephaly/Subcortical Band Heterotopia.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

PAFAH1B1
Specificity
100 %
Genes
100 %
Microcephaly.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC25A19, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, NHEJ1 , (...)

View the complete list with 4 more genes
Specificity
5 %
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 %
Lissencephaly 1.

By Praxis fuer Humangenetik Wien in Austria.

PAFAH1B1
Specificity
100 %
Genes
100 %
LIS1 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

PAFAH1B1
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 1.

By MedGene in Slovakia.

PAFAH1B1
Specificity
100 %
Genes
100 %
Lissencephaly: PAFAH1B1 (LIS1) gene sequence analysis.

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

PAFAH1B1
Specificity
100 %
Genes
100 %
Lissencephaly: PAFAH1B1 (LIS1), DCX, POMT1, POMGnT1 and FLNA genes deletions-duplications analysis (MLPA).

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

DCX, PAFAH1B1
Specificity
50 %
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 %
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia: PAFAH1B1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAFAH1B1
Specificity
100 %
Genes
100 %
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia: PAFAH1B1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAFAH1B1
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 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Microcephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
PAFAH1B1.

By Fulgent Genetics Fulgent Genetics in United States.

PAFAH1B1
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 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)

View the complete list with 28 more genes
Specificity
3 %
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 %
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 %
Lissencephaly type 1.

By Bioarray in Spain.

PAFAH1B1
Specificity
100 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
Isolated Lissencephaly, Sequencing PAFAH1B1 (LIS1) Gene.

By Reference Laboratory Genetics in Spain.

PAFAH1B1
Specificity
100 %
Genes
100 %
Lissencephaly, Deletions-Duplication (MLPA) (PAFAH1B1 and DCX)Genes.

By Reference Laboratory Genetics in Spain.

DCX, PAFAH1B1
Specificity
50 %
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 1; Lis1 Is also known as lissencephaly sequence, isolated;ils, lissencephaly, classic.



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other rare diseases that you may find interesting

NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6