Variant: rs1553629086 

    present in Gene: HECW2
    present in Chromosome: 2
    Position on Chromosome: 196201282
    Alleles of this Variant: C/T

rs1553629086 in HECW2 gene and Dysmorphic features PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 27334371 2016 Mutations in HECW2 are associated with intellectual disability and epilepsy.

PMID 16179223 2005 The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 25961944 2015 Excess of rare, inherited truncating mutations in autism.

PMID 25555806 2015 NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling.

PMID 24163370 2013 The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

rs1553629086 in HECW2 gene and Muscle hypotonia PMID 24163370 2013 The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 25961944 2015 Excess of rare, inherited truncating mutations in autism.

PMID 25555806 2015 NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling.

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 27334371 2016 Mutations in HECW2 are associated with intellectual disability and epilepsy.

PMID 16179223 2005 The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.