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.

  Similar diseases  

Clinical Features

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

  • Heterotopia
  • Spastic tetraparesis
  • Lissencephaly
  • Abnormality of the cerebral white matter
  • Hypoplasia of the brainstem
  • Postnatal microcephaly
  • Pachygyria
  • Muscular hypotonia of the trunk
  • Cerebellar hypoplasia
  • Sporadic
View the complete list of symptoms

Incidence and onset information

Not enough data available about incidence and published cases.

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, LARGE1, LAMA2, ASPM, MCPH1, FOLR1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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, PAFAH1B1, DCX, RAB3GAP1, RELN, TUBA8, ADGRG1, TUBB2B, KIF1BP, LAMC3, ACTG1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Compare panel coverage
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, B4GAT1, LARGE1, B3GALNT2, POMGNT2, LAMA2, ARFGEF2, PAFAH1B1, DCX , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
LIS1 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
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, B4GAT1, LARGE1, B3GALNT2, RXYLT1, POMGNT2, LAMA2, PAFAH1B1, DCX , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Compare panel coverage
LIS1 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
Classic Lissencephaly Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBA1A, ARX, PAFAH1B1, DCX, RELN, ACTG1, ACTB, VLDLR
Specificity
13 %
Genes
100 %
Compare panel coverage
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, B4GAT1, LARGE1, B3GALNT2, RXYLT1, LAMA2, PAFAH1B1, DCX, RELN , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Compare panel coverage
Miller-Dieker syndrome.

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

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
LIS1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
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 %
Compare panel coverage
Cortical Brain Malformations Panel.

By GeneDx in United States.

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

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

By GeneDx in United States.

ATP6V0A2, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, POMT2, POMT1, ISPD, B4GAT1, LARGE1, B3GALNT2, RXYLT1, POMGNT2, PAFAH1B1, DCX, NDE1, RELN, ACTG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Compare panel coverage
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 %
Compare panel coverage
PAFAH1B1. Complete sequencing.

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

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
PAFAH1B1. MLPA testing.

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

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Lissencephaly (NGS panel for 12 genes).

By CGC Genetics in Portugal.

TUBA1A, ARX, POMT2, POMT1, PAFAH1B1, DCX, NDE1, RELN, KATNB1, CDK5, LAMB1, YWHAE
Specificity
9 %
Genes
100 %
Compare panel coverage
Classic lissencephaly via the PAFAH1B1/LIS1 Gene.

By PreventionGenetics PreventionGenetics in United States.

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC2, MCCC1, 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 %
Compare panel coverage
Lissencephaly.

By Medizinisch Genetisches Zentrum München MGZ München in Germany.

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

By Medizinisch Genetisches Zentrum München MGZ München 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 %
Compare panel coverage
Microcephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

SLC25A19, DNM1L, WDR62, POMT1, ASPM, MCPH1, PAFAH1B1, CENPJ, NDE1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, KIF11, EFTUD2, IER3IP1, AKT3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Compare panel coverage
Lissencephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

TUBA1A, ARX, PAFAH1B1, DCX, NDE1, RELN, YWHAE
Specificity
15 %
Genes
100 %
Compare panel coverage
Lissencephaly type 1.

By Centogene AG - the Rare Disease Company in Germany.

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
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 %
Compare panel coverage
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

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

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

By CeGaT GmbH in Germany.

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

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Single gene testing PAFAH1B1.

By CeGaT GmbH in Germany.

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
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 %
Compare panel coverage
Microcephaly.

By Asper Biogene Asper Biogene LLC in Estonia.

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

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Compare panel coverage
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 %
Compare panel coverage
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders.

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States.

MTHFR, UBE3A, PC, ARG1, ATP7A, BTD, ATPAF2, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PAX6, MTR, INPP5E, MTRR, HSD17B4, CPT2, OPA1 , (...)

View the complete list with 411 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
devSEEK® Sequence Analysis for Neurodevelopmental Disorders.

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States.

FMR1, UBE3A, PTEN, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, TIMM8A, MECP2, STXBP1, TUBA1A, TUSC3, AMT, ALG6, D2HGDH, OTC, HCCS, PDHA1 , (...)

View the complete list with 181 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Infantile Seizures Spotlight Panel.

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States.

MMACHC, MECP2, STXBP1, PDHA1, ARX, CDKL5, FOXG1, MEF2C, TSC2, TSC1, SCN2A, GABRA1, ALG13, ARFGEF2, PAFAH1B1, MAGI2, SCN8A, BUB1B
Specificity
6 %
Genes
100 %
Compare panel coverage
Brain Malformation Seizures Spotlight Panel.

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States.

SHH, TUBA1A, ARX, WDR62, TSC2, TSC1, FKTN, POMGNT1, PHGDH, FKRP, POMT2, POMT1, SIX3, EMX2, ARFGEF2, PAFAH1B1, DCX, NDE1, RELN, TUBA8 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Compare panel coverage
Lissencephaly Spotlight Panel.

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States.

TUBA1A, ARX, POMT2, POMT1, PAFAH1B1, DCX, RELN, YWHAE
Specificity
13 %
Genes
100 %
Compare panel coverage
Lissencephaly 1.

By Praxis fuer Humangenetik Wien in Austria.

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
LIS1 Gene Sequencing.

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

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
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 %
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Lissencephaly 1.

By MedGene in Slovakia.

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

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

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
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.

PAFAH1B1, DCX
Specificity
50 %
Genes
100 %
Compare panel coverage
LISSENCEPHALY.

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

TUBA1A, ARX, PAFAH1B1, DCX, NDE1, RELN, YWHAE
Specificity
15 %
Genes
100 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
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 %
Compare panel coverage
Lissencephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TUBA1A, ARX, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, PAFAH1B1, DCX, RELN, ACTG1, ACTB, VLDLR
Specificity
8 %
Genes
100 %
Compare panel coverage
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

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

By Fulgent Genetics Fulgent Genetics in United States.

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

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

By Fulgent Genetics Fulgent Genetics in United States.

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
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 %
Compare panel coverage
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics in Finland.

RARS2, WDR62, MRE11, DYNC1H1, VRK1, POMT1, ASPM, MCPH1, MBD5, PAFAH1B1, CENPJ, NDE1, PQBP1, TSEN54, STIL, TUBB2B, DYRK1A, PNKP, OPHN1, CASK , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Compare panel coverage
Lissencephaly Panel.

By Blueprint Genetics in Finland.

TUBA1A, ARX, FKTN, POMGNT1, POMT2, POMT1, LARGE1, PAFAH1B1, DCX, RELN, TUBB2B, ACTG1, ACTB, VLDLR, YWHAE
Specificity
7 %
Genes
100 %
Compare panel coverage
Comprehensive Skeletal / Malformation Syndrome Panel.

By Blueprint Genetics in Finland.

TTR, PTEN, RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, GAA, FOXL2, FBLN5, EYA1, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, PAX6, TGFB1, TUBB3 , (...)

View the complete list with 409 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Neuronal Migration Disorder Panel.

By Blueprint Genetics in Finland.

TUBB3, FH, TUBA1A, ARX, CHD7, MEF2C, WDR62, FKTN, POMGNT1, SLC12A6, COL4A4, L1CAM, DYNC1H1, POMT2, POMT1, ISPD, LARGE1, B3GALNT2, RXYLT1, LAMA2 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Compare panel coverage
Lissencephaly type 1.

By Bioarray in Spain.

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
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 %
Compare panel coverage
Isolated Lissencephaly, Sequencing PAFAH1B1 (LIS1) Gene.

By Reference Laboratory Genetics in Spain.

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

By Reference Laboratory Genetics in Spain.

PAFAH1B1, DCX
Specificity
50 %
Genes
100 %
Compare panel coverage

Alternate names

Lissencephaly 1; Lis1 Is also known as lissencephaly sequence, isolated;ils, lissencephaly, classic.



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