Variant: rs1555977248 

    present in Gene: CASK
    present in Chromosome: X
    Position on Chromosome: 41542781
    Alleles of this Variant: T/A

rs1555977248 in CASK gene and Dysmorphic features PMID 23623288 2014 A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

PMID 22452838 2012 Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

PMID 21954287 2011 Phenotypic spectrum associated with CASK loss-of-function mutations.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 19165920 2008 Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

PMID 21498811 2011 MAGUKs, synaptic development, and synaptic plasticity.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

PMID 22709267 2012 CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

PMID 25886057 2015 Phenotypic and molecular insights into CASK-related disorders in males.

PMID 24768552 2014 Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 20029458 2010 CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

rs1555977248 in CASK gene and Movement Disorders PMID 25886057 2015 Phenotypic and molecular insights into CASK-related disorders in males.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 21498811 2011 MAGUKs, synaptic development, and synaptic plasticity.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

PMID 22452838 2012 Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

PMID 21954287 2011 Phenotypic spectrum associated with CASK loss-of-function mutations.

PMID 20029458 2010 CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

PMID 23623288 2014 A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

PMID 22709267 2012 CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

PMID 19165920 2008 Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 24768552 2014 Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

rs1555977248 in CASK gene and Multiple congenital anomalies PMID 22709267 2012 CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 23623288 2014 A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

PMID 22452838 2012 Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

PMID 21954287 2011 Phenotypic spectrum associated with CASK loss-of-function mutations.

PMID 21498811 2011 MAGUKs, synaptic development, and synaptic plasticity.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

PMID 25886057 2015 Phenotypic and molecular insights into CASK-related disorders in males.

PMID 19165920 2008 Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

PMID 20029458 2010 CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 24768552 2014 Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.