present in Gene: POGZ
present in Chromosome: 1
Position on Chromosome: 151406306
Alleles of this Variant: G/A;T
rs1313319892 in
POGZ gene and
Dysmorphic features
PMID 9862965 1999 Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.
PMID 24463507 2014 De novo mutations in schizophrenia implicate synaptic networks.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 25694107 2015 A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
PMID 23375656 2013 Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.
PMID 27148570 2015 De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
PMID 26739615 2016 POGZ truncating alleles cause syndromic intellectual disability.
PMID 26942287 2016 Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
PMID 28480548 2017 Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.
PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.
PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 26942287 2016 Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
PMID 24463507 2014 De novo mutations in schizophrenia implicate synaptic networks.
PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.
PMID 27148570 2015 De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
PMID 25694107 2015 A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
PMID 9862965 1999 Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.
PMID 26739615 2016 POGZ truncating alleles cause syndromic intellectual disability.
PMID 28480548 2017 Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.
PMID 23375656 2013 Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
rs1313319892 in
POGZ gene and
Muscle hypotonia
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 24463507 2014 De novo mutations in schizophrenia implicate synaptic networks.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.
PMID 23375656 2013 Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
PMID 28480548 2017 Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.
PMID 27148570 2015 De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
PMID 26942287 2016 Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
PMID 26739615 2016 POGZ truncating alleles cause syndromic intellectual disability.
PMID 9862965 1999 Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.
PMID 25694107 2015 A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.