Lissencephaly 6 With Microcephaly; Lis6

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Genes related to Lissencephaly 6 With Microcephaly; Lis6

KATNB1

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Clinical Features

Top most frequent phenotypes and symptoms related to Lissencephaly 6 With Microcephaly; Lis6

Seizures
Global developmental delay
Microcephaly
Abnormal facial shape
Spasticity
Cognitive impairment
Motor delay
Hyperreflexia
Ventriculomegaly
Hypoplasia of the corpus callosum

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Lissencephaly 6 With Microcephaly; Lis6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cerebral Cortical Malformation Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...) View the complete list with 34 more genes Panel complete gene list SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2, RTTN, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB4A, TUBB, ERMARD, GMPPB, KIF1BP, WDR62, SRD5A3, POMGNT2, POMK, DCX, B3GALNT2, GPSM2, DYNC1H1, TUBB2B, FKTN, FLNA, AKT3, ADGRG1, KATNB1, KIF2A, KIF5C, LAMA2, LAMC3, LARGE1, ASNS, OCLN, PAFAH1B1, POMT1, RELN Specificity 2 % Genes 100 %
Lissencephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMGNT2 , (...) View the complete list with 16 more genes Panel complete gene list SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMGNT2, POMK, DCX, B3GALNT2, DYNC1H1, TUBB2B, FKTN, ISPD, ADGRG1, KATNB1, KIF5C, LAMA2, LAMB1, LARGE1, PAFAH1B1, POMT1, RELN Specificity 3 % Genes 100 %
Comprehensive Lissencephaly Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMK, DCX , (...) View the complete list with 14 more genes Panel complete gene list SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMK, DCX, B3GALNT2, DYNC1H1, TUBB2B, FKTN, ISPD, ADGRG1, KATNB1, KIF5C, LAMA2, LAMB1, LARGE1, PAFAH1B1, POMT1, RELN Specificity 3 % Genes 100 %
Microcephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...) View the complete list with 50 more genes Panel complete gene list STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP, RAB3GAP1, ORC6, RAB3GAP2, CENPJ, CDC6, NDE1, CDK6, SPATA5, TUBGCP6, IER3IP1, CENPE, CENPF, CDK5RAP2, ASPM, KIF1BP, MED17, KNL1, WDR62, CDT1, CTNNB1, SASS6, NHEJ1, CEP63, MFSD2A, TSEN54, TRMT10A, TSEN2, CEP135, CEP152, ASXL3, PYCR2, TRAPPC9, EFTUD2, DYRK1A, PHC1, FOXG1, KATNB1, KIF11, LIG4, MCPH1, MECP2, NBN, ORC1, ORC4, ATR, ATRX, PNKP, PQBP1, QARS, RBBP8 Specificity 2 % Genes 100 %
Cerebral Cortical Malformations Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...) View the complete list with 34 more genes Panel complete gene list SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2, RTTN, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB4A, TUBB, ERMARD, GMPPB, KIF1BP, WDR62, SRD5A3, POMGNT2, POMK, DCX, B3GALNT2, GPSM2, DYNC1H1, TUBB2B, FKTN, FLNA, AKT3, ADGRG1, KATNB1, KIF2A, KIF5C, LAMA2, LAMC3, LARGE1, ASNS, OCLN, PAFAH1B1, POMT1, RELN Specificity 2 % Genes 100 %
Microcephaly Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...) View the complete list with 59 more genes Panel complete gene list STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP, RAB3GAP1, ORC6, RAB3GAP2, CENPJ, CDC6, NDE1, CDK6, SPATA5, TUBGCP6, IER3IP1, CENPE, CENPF, CDK5RAP2, ASPM, CIT, KIF1BP, MED17, KNL1, WDR62, CDT1, CTNNB1, SASS6, NHEJ1, CEP63, MFSD2A, TSEN54, TRMT10A, TSEN2, DIAPH1, CEP135, CEP152, ASXL3, PYCR2, TRAPPC9, EFTUD2, DYRK1A, PHC1, EIF2S3, AGMO, FOXG1, KATNB1, KIF11, LIG4, MCPH1, MECP2, NBN, ORC1, ORC4, ATR, ATRX, PNKP, PQBP1, QARS, RBBP8 Specificity 2 % Genes 100 %
Lissencephaly (NGS panel for 12 genes). By CGC Genetics (Portugal). YWHAE, NDE1, CDK5, ARX, POMT2, TUBA1A, DCX, KATNB1, LAMB1, PAFAH1B1, POMT1, RELN Specificity 9 % Genes 100 %
Lissencephaly-6 with Microcephaly via KATNB1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). KATNB1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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