Gene: CHD7

Alternate names for this Gene: CRG|HH5|IS3|KAL5

Gene Summary: This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q12.2

Description of this Gene: chromodomain helicase DNA binding protein 7

Type of Gene: protein-coding

rs13269361 in CHD7 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs10957156 in CHD7 gene and Age at menopause PMID 26414677 2015 Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

rs4738817 in CHD7 gene and Albuminuria PMID 30220432 2018 Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.

rs35914442 in CHD7 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7845701 in CHD7 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1060503188 in CHD7 gene and CHARGE Syndrome PMID 30828794 2019 Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.

PMID 21931733 2011 CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

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

PMID 21158681 2010 Mutations in the CHD7 gene: the experience of a commercial laboratory.

PMID 22462537 2013 Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

PMID 19021638 2009 CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

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

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

PMID 20453063 2010 CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

PMID 21554267 2012 CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

PMID 16763960 2006 CHD7 gene and non-syndromic cleft lip and palate.

PMID 18074359 2008 Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.

PMID 18445044 2008 CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.

PMID 21407266 2011 Clinical utility gene card for: CHARGE syndrome.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

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

PMID 20884005 2011 Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

PMID 18073582 2007 Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.

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

PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

PMID 29255276 2018 CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

PMID 22033296 2012 Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.

PMID 26663670 2016 Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

PMID 23024289 2012 Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.

PMID 20624498 2011 Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

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

PMID 26544072 2015 Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.

PMID 26538304 2016 Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

PMID 27061523 2016 Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.

rs1064793083 in CHD7 gene and Dysmorphic features PMID 20186815 2010 Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

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

PMID 23883829 2013 CHD7 gene polymorphisms and familial idiopathic scoliosis.

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

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

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

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

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

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

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

PMID 17299439 2007 CHARGE syndrome: an update.

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

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.

rs13277976 in CHD7 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7846314 in CHD7 gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs121434343 in CHD7 gene and HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA PMID 21158681 2010 Mutations in the CHD7 gene: the experience of a commercial laboratory.

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

PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

PMID 21931733 2011 CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.

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

PMID 22033296 2012 Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.

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

PMID 26538304 2016 Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

rs4289855 in CHD7 gene and Major Depressive Disorder PMID 29728651 2018 Common variants on 6q16.2, 12q24.31 and 16p13.3 are associated with major depressive disorder.

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.

rs1064793083 in CHD7 gene and Multiple congenital anomalies PMID 17299439 2007 CHARGE syndrome: an update.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 23883829 2013 CHD7 gene polymorphisms and familial idiopathic scoliosis.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

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.

rs4237036 in CHD7 gene and Neutrophil count (procedure) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs13269361 in CHD7 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs900504 in CHD7 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10094382 in CHD7 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.