Variant: rs1554599036 

    present in Gene: CHD7
    present in Chromosome: 8
    Position on Chromosome: 60828698
    Alleles of this Variant: GAACACTGTGGAAGAAC/-

rs1554599036 in CHD7 gene and Dysmorphic features PMID 15666308 2005 Updated diagnostic criteria for CHARGE syndrome: a proposal.

PMID 17661815 2007 Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

PMID 16155193 2006 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

PMID 14626219 2003 Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies.

PMID 17299439 2007 CHARGE syndrome: an update.

PMID 18834967 2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 20130577 2010 CHD7 cooperates with PBAF to control multipotent neural crest formation.

PMID 10590394 1999 CHARGE Association in newborns: a registry-based study.

PMID 16400610 2006 Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

PMID 20186815 2010 Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 23883829 2013 CHD7 gene polymorphisms and familial idiopathic scoliosis.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 15300250 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

PMID 26590800 2016 Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

PMID 25472840 2014 Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

PMID 22539353 2012 A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

PMID 22461308 2012 Mutation update on the CHD7 gene involved in CHARGE syndrome.

PMID 21378379 2011 CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

PMID 21532573 2011 Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

rs1554599036 in CHD7 gene and Movement Disorders PMID 23883829 2013 CHD7 gene polymorphisms and familial idiopathic scoliosis.

PMID 16400610 2006 Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 17661815 2007 Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

PMID 21378379 2011 CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

PMID 15300250 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

PMID 17299439 2007 CHARGE syndrome: an update.

PMID 20130577 2010 CHD7 cooperates with PBAF to control multipotent neural crest formation.

PMID 16155193 2006 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

PMID 10590394 1999 CHARGE Association in newborns: a registry-based study.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 25472840 2014 Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

PMID 22461308 2012 Mutation update on the CHD7 gene involved in CHARGE syndrome.

PMID 26590800 2016 Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

PMID 22539353 2012 A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

PMID 20186815 2010 Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

PMID 21532573 2011 Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

PMID 15666308 2005 Updated diagnostic criteria for CHARGE syndrome: a proposal.

PMID 18834967 2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 14626219 2003 Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies.

rs1554599036 in CHD7 gene and Multiple congenital anomalies PMID 20130577 2010 CHD7 cooperates with PBAF to control multipotent neural crest formation.

PMID 18834967 2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 17661815 2007 Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

PMID 22461308 2012 Mutation update on the CHD7 gene involved in CHARGE syndrome.

PMID 20186815 2010 Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

PMID 21378379 2011 CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

PMID 26590800 2016 Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 25472840 2014 Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

PMID 22539353 2012 A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 21532573 2011 Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

PMID 23883829 2013 CHD7 gene polymorphisms and familial idiopathic scoliosis.

PMID 17299439 2007 CHARGE syndrome: an update.

PMID 14626219 2003 Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies.

PMID 15300250 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

PMID 16155193 2006 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

PMID 16400610 2006 Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

PMID 10590394 1999 CHARGE Association in newborns: a registry-based study.

PMID 15666308 2005 Updated diagnostic criteria for CHARGE syndrome: a proposal.

rs1554599036 in CHD7 gene and Muscle hypotonia PMID 25472840 2014 Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 22461308 2012 Mutation update on the CHD7 gene involved in CHARGE syndrome.

PMID 22539353 2012 A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

PMID 23883829 2013 CHD7 gene polymorphisms and familial idiopathic scoliosis.

PMID 26590800 2016 Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

PMID 21532573 2011 Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 21378379 2011 CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

PMID 10590394 1999 CHARGE Association in newborns: a registry-based study.

PMID 17299439 2007 CHARGE syndrome: an update.

PMID 14626219 2003 Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies.

PMID 18834967 2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 16400610 2006 Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

PMID 16155193 2006 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

PMID 15300250 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

PMID 17661815 2007 Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

PMID 15666308 2005 Updated diagnostic criteria for CHARGE syndrome: a proposal.

PMID 20186815 2010 Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

PMID 20130577 2010 CHD7 cooperates with PBAF to control multipotent neural crest formation.