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  

Genes related to Lissencephaly 1; Lis1

  • PAFAH1B1

Clinical Features

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

  • Heterotopia
  • Spastic tetraparesis
  • Abnormality of the cerebral white matter
  • Lissencephaly
  • 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.
— Variable expressivity

Lissencephaly 1; Lis1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing Evaluation - Neuronal Migration Disorders.

FGFR3, PAX6, PEX7, WDR62, TUBA8, FKRP, POMT2, SNAP29, ARFGEF2, PAFAH1B1, CPT2, RAB3GAP1, SRPX2, ARX, FLNA, EMX2, FKTN, POMGNT1, POMT1, COL4A1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Compare panel coverage
Epilepsy Advanced Sequencing Evaluation.

FGFR3, SLC2A1, PAX6, DEPDC5, SCN1A, CCDC88C, DNAJC5, PRRT2, PEX7, NRXN1, PRICKLE2, GABRA1, TBC1D24, WDR62, SPTAN1, PNKP, TUBA8, FKRP, POMT2, SAMHD1 , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Syndromic Autism Panel.

ADNP, SCN1A, RAB39B, PAFAH1B1, NSD1, FOXP2, FGD1, CHD7, SYNE1, CTNNB1, PTEN, PHF6, PCDH19, ARX, NRXN1, NHS, MED12, CACNA1C, ATRX, CHD8 , (...)

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

SZT2, MCPH1, TGIF1, STXBP1, SPTAN1, SLC35A2, GABRA1, SLC13A5, CDKL5, PNKP, TBC1D24, PTCH1, PIGA, NODAL, PCDH19, PAFAH1B1, GRIN2B, SNAP25, SCN5A, CACNA2D1 , (...)

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

SLC2A1, AFF2, ZNF507, TSC1, STK3, ST7, SOX5, SMG6, SLC9A9, SCN1A, SATB2, RAB39B, PTPN11, PNKP, PHF6, PCDH19, PAFAH1B1, OPHN1, NSD1, NIPBL , (...)

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

CDK5RAP2, AHI1, ARFGEF2, RARS2, ATRX, ARX, OFD1, EOMES, CDON, EMX2, FKTN, FKRP, MED12, NODAL, COL4A1, PTCH1, MECP2, NSD1, RPGRIP1L, RAB3GAP1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Epilepsy/Seizure.

MAGI2, GATM, ADGRV1, GOSR2, NRXN1, NHLRC1, PRICKLE2, SYN1, EPM2A, SCARB2, WDR62, UBE3A, TSC1, TPP1, TBC1D24, STXBP1, SPTAN1, SLC2A1, SCN1B, SCN1A , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Cerebral Cortical Deletion/Duplication Panel.

POMT2, POMT1, POMGNT1, FKRP, FKTN, PAFAH1B1, ARX, RAB3GAP1, RTTN, TUBB3, WDR62, TUBA8, OCLN, VLDLR, LARGE1, ACTB, DCX, RAB18, RAB3GAP2, ACTG1 , (...)

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

ARFGEF2, ARX, ATP6V0A2, DYNC1H1, FKTN, FKRP, CCND2, CDK5, KIF2A, OCLN, RTTN, RAB3GAP1, SRD5A3, SNAP29, TUBA8, TUBG1, FLNA, PAFAH1B1, POMGNT1, POMT1 , (...)

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

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

CDK5, DYNC1H1, TUBG1, TUBB3, TUBB, POMT2, POMT1, FKTN, FKRP, SRD5A3, SNAP29, ATP6V0A2, POMGNT1, GMPPB, B4GAT1, B3GALNT2, TMEM5, ISPD, ARX, PAFAH1B1 , (...)

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

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

ARX, PAFAH1B1, DCX, VLDLR, ACTG1, ACTB, RELN, TUBA1A
Specificity
13 %
Genes
100 %
Compare panel coverage
Comprehensive Lissencephaly Panel.

FKTN, DYNC1H1, TUBG1, TUBB3, TUBB, CDK5, SRD5A3, SNAP29, ATP6V0A2, POMGNT1, GMPPB, B4GAT1, B3GALNT2, TMEM5, ISPD, POMT2, POMT1, PAFAH1B1, FKRP, ARX , (...)

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

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

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

OCLN, TUBB3, TMEM216, TMEM138, RPGRIP1L, POMT2, POMT1, POMGNT1, PAFAH1B1, NPHP1, MKS1, KIF7, FLNA, FKTN, FKRP, CEP41, CEP290, ARX, ARFGEF2, AHI1 , (...)

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

OCLN, TUBB3, POMT2, POMT1, POMGNT1, PAFAH1B1, FLNA, FKTN, FKRP, ARX, ARFGEF2, EOMES, TUBA8, SRPX2, VLDLR, TUBB2B, RELN, PQBP1, NDE1, LARGE1 , (...)

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

FKRP, POMGNT1, GMPPB, ARX, PAFAH1B1, POMT1, FKTN, ATP6V0A2, WDR62, B4GAT1, TMEM5, POMT2, ISPD, B3GALNT2, TUBA1A, NDE1, VLDLR, DCX, POMGNT2, LAMB1 , (...)

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

UBE3A, L1CAM, CDKL5, SCN1A, RPGRIP1L, RAB39B, PTEN, PTCH1, PNKP, PCDH19, OPHN1, NRXN1, NSD1, NRAS, NHS, NF1, KMT2D, MET, MECP2, PAFAH1B1 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
PAFAH1B1. Complete sequencing.

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

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

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

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

AMPD2, CENPJ, DYNC1H1, ZNF335, SEPSECS, AP4M1, TSEN34, MCPH1, CEP63, CDK5RAP2, CLP1, IER3IP1, TUBG1, MED17, RARS2, PNKP, KNL1, CEP135, RBBP8, TUBGCP6 , (...)

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

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

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

UBR1, UPB1, GATM, MOGS, KIF11, BCS1L, ANKH, RAB3GAP1, COG5, TUBGCP6, RMND1, SPATA5, TUBA8, GBA2, ZNF711, ACOX1, ISPD, ATP6V0A2, SETD5, SURF1 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Lissencephaly.

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

TUBA8, FGFR3, FANCB, FLNA, TBC1D24, CLP1, CHRNB2, SGCE, SCARB2, SEPSECS, SCN1B, ACSL4, ZNF711, IDS, HSD17B10, SGSH, RAB39B, BRWD3, CCND2, HERC2 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Microcephaly panel.

POMT1, PAFAH1B1, IER3IP1, CEP63, CENPJ, PNKP, CDK5RAP2, AP4M1, TUBGCP6, KIF11, CEP135, WDR62, STIL, MCPH1, EFTUD2, AKT3, TUBB2B, ASPM, NR2E1, MSMO1 , (...)

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

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

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

MTOR, JRK, CAV3, NXF5, AMPD2, SCN3A, ZCCHC12, ARSI, USP8, TTN, TBL1XR1, TFG, DHTKD1, ERLIN1, LIMS2, MAG, DAG1, HMGCS2, MTR, PTS , (...)

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

RAB3GAP1, COL4A1, PAFAH1B1, KIF2A, FH, FKRP, TUBB3, RTTN, DCHS1, B3GALNT2, MED12, POMT2, FKTN, FLNA, TUBG1, TMEM5, SNAP29, ARFGEF2, DYNC1H1, ISPD , (...)

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

FLNA, TUBG1, TMEM5, SNAP29, ARFGEF2, DYNC1H1, ISPD, POMT1, POMGNT1, EMX2, FKTN, IER3IP1, WDR62, TUBA8, ARX, B4GAT1, FAT4, GMPPB, RAB3GAP1, COL4A1 , (...)

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

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

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

AP4M1, POMT1, PAFAH1B1, KNL1, CEP63, CEP135, TUBGCP6, KIF11, EFTUD2, IER3IP1, WDR62, PNKP, STIL, CENPJ, CDK5RAP2, MCPH1, PCNT, CEP152, NDE1, NHEJ1 , (...)

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

MKS1, ARX, PEX3, ETFB, B9D1, PEX5, ISPD, TUBB, CCND2, PIEZO2, AMPD2, CLP1, TUBB2A, TUBGCP6, PEX16, FAT4, GMPPB, TUBG1, KIF2A, FKTN , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders.

MAP2K1, TSC1, BRAF, MAP2K2, NODAL, SOS1, ATP1A2, SCN5A, MET, DNAJC5, NDUFAF6, CCDC88C, ELP4, CHRNA7, OFD1, SCN1A, SCN11A, ATP6AP2, FAAH, CNTN2 , (...)

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

UBE3A, RAB39B, PNKP, PAFAH1B1, MED12, MECP2, FLNA, EBP, STXBP1, ATRX, ARX, ARFGEF2, GRIN2B, DYNC1H1, FMN2, ZMYND11, METTL23, L1CAM, ADNP, SOX11 , (...)

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

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

EOMES, FLNA, EMX2, POMGNT1, FKRP, FKTN, POMT2, POMT1, ARX, RTTN, WDR62, TUBA8, SNAP29, ARFGEF2, PAFAH1B1, TSC1, SIX3, DCLK2, SHH, RELN , (...)

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

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

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

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

AHI1, ARX, OFD1, CDKL5, CHD7, CEP290, EYA1, FBN1, EMX2, GATA4, IGF2, MAP2K2, HCCS, COL2A1, CBFB, OCRL, PAX6, PTCH1, PKD1, MECP2 , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Lissencephaly 1.

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

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

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

YWHAE, PAFAH1B1, ARX, DCX, NDE1, RELN, TUBA1A
Specificity
15 %
Genes
100 %
Compare panel coverage
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia: PAFAH1B1 Full Gene Sequencing.

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

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
Epilepsy and Seizure Disorders: Sequencing and Deletion/Duplication Panel.

ATP1A2, SCN3A, TBC1D24, TPP1, ATP6AP2, SCN1B, TSC1, GABRA1, ADGRV1, SLC2A1, CENPJ, FLNA, PRRT2, MAGI2, POLG, CLN8, SCN1A, CACNA1A, DNAJC5, MECP2 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Autism Spectrum Disorders: Tier 2 Panel.

CHD7, PTEN, NSD1, NR1I3, PTPN11, ATRX, MED12, NHS, SLC2A1, L1CAM, DMD, BRAF, SCN1A, CACNA1C, MECP2, ARX, CDKL5, CHD8, FMR1, NRXN1 , (...)

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

CEP290, POMT1, TMEM216, EXOSC3, TMEM138, RARS2, RAB3GAP1, OPHN1, POMGNT1, FKTN, MKS1, TUBA8, TSEN34, AHI1, FKRP, RPGRIP1L, NPHP1, ARX, RTTN, WDR62 , (...)

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

NODAL, ATP1A2, RBBP8, EOMES, GABRA1, TBC1D24, TPP1, ATP6AP2, SCN1B, TSC1, TUBB3, POMGNT1, FKRP, FKTN, ATRX, RPGRIP1L, KIF7, NPHP1, MKS1, ADGRV1 , (...)

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

UBE3A, ATRX, ARX, CDKL5, CHD7, FOXP2, FGD1, DMD, MED12, NRXN1, NHS, HPRT1, MECP2, PCDH19, NSD1, SLC2A1, BRAF, FMR1, NIPBL, OPHN1 , (...)

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

EOMES, TUBB3, KIF7, FLNA, POMT2, CEP41, FKTN, CEP290, POMT1, TMEM216, TMEM138, TUBA8, RARS2, RAB3GAP1, OPHN1, FKRP, RPGRIP1L, NPHP1, ARX, RTTN , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Compare panel coverage
Autism NGS Panel.

SATB2, BRAF, CACNA1C, PTPN11, PTEN, NSD1, MECP2, SCN1A, ARX, CDKL5, PCDH19, PNKP, AVPR1A, GRPR, DLGAP2, CHD7, UBE3A, FGD1, HOXA1, ATRX , (...)

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

TGIF1, COL4A1, POMT1, FKTN, FKRP, POMT2, NRAS, MAP2K1, SHOC2, MAP2K2, BRAF, SCN5A, SCN1B, SCN3B, RAF1, KRAS, SOS1, HRAS, PTPN11, NODAL , (...)

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

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

SATB2, POMT1, FKTN, FKRP, POMT2, KRAS, PTPN11, GBA, PTEN, RBBP8, ATP1A2, FGFR2, BRCA2, PRKAR1A, PAX6, HAX1, USP9X, RAB40AL, GAMT, SLC2A1 , (...)

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

STIL, CEP63, PNKP, RARS2, EFTUD2, MED17, MCPH1, TUBGCP6, CENPJ, LIG4, TSEN34, WDR62, CDK5RAP2, POMT1, PAFAH1B1, CEP135, KIF11, IER3IP1, VRK1, AKT3 , (...)

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

PAFAH1B1
Specificity
100 %
Genes
100 %
Compare panel coverage
Comprehensive Epilepsy NGS Panel.

SHOC2, COG7, STIL, SMS, KAT6B, SUMF1, GLRB, ABCB1, COQ2, EFHC2, GLI2, ME2, PEX7, POMT1, KMT2D, NDUFA1, LBR, NRAS, NPC1, RFT1 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Microcephaly and Pontocerebellar Hypoplasia Panel.

RARS2, CENPF, CENPJ, DYNC1H1, CDK5RAP2, EFTUD2, KIF11, LIG4, MCPH1, OPHN1, PAFAH1B1, POMT1, DYRK1A, EXOSC3, PNKP, STIL, WDR62, CEP63, AKT3, ASPM , (...)

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

ARX, FKTN, YWHAE, PAFAH1B1, POMGNT1, POMT1, POMT2, ACTB, LARGE1, ACTG1, DCX, RELN, TUBA1A, VLDLR, TUBB2B
Specificity
7 %
Genes
100 %
Compare panel coverage
Neuronal Migration Disorder Panel.

ARFGEF2, ARX, CHD7, DYNC1H1, EMX2, FKTN, FH, MED12, COL4A1, COL4A4, RAB3GAP1, TUBA8, YWHAE, FLNA, PAFAH1B1, POMGNT1, POMT1, POMT2, SLC12A6, TUBB3 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
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Comprehensive Skeletal / Malformation Syndrome Panel.

ABCC6, DHCR24, ADAMTS2, ACTA1, ADAMTSL2, ALPL, ARFGEF2, ANKH, RARS2, BMP2, ARX, ALX3, ATP6V0A2, BIN1, CRTAP, CENPF, CENPJ, BRWD3, CLCN5, CHRNB1 , (...)

View the complete list with 409 more genes
Specificity
1 %
Genes
100 %
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Lissencephaly type 1.

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

PAFAH1B1, NIPBL, PTEN, NSD1, DOCK8, PAX6, APC, SLC3A1, USH1C, CRK, NF1, KRIT1, YWHAE, MAGI2, FBXW4, SCN1A, WT1, IGF2, HBB, NRXN1 , (...)

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

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

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

Alternate names

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

Sources

OMIM ORPHANET

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