CHD7 Database
The CHD7 database contains locus-specific, anonymised mutation data on both published and unpublished variants of the CHD7 gene related to the CHARGE syndrome phenotype. It can be searched for patients and their clinical phenotype or for mutations. It can be used as a central, quick reference database for anyone who encounters a variant in the CHD7 gene. Mutations are numbered according to the current reference sequence (GenBank Accession no. NM017780.2).
Description
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The CHD7 database contains locus-specific, anonymised mutation data on both published and unpublished variants of the CHD7 gene related to the CHARGE syndrome phenotype. It can be searched for patients and their clinical phenotype or for mutations. It can be used as a central, quick reference database for anyone who encounters a variant in the CHD7 gene. Mutations are numbered according to the current reference sequence (GenBank Accession no. NM017780.2).
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Webpage:
https://www.chd7.org/Webpage
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Publications:
Publications
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Mutation update on the CHD7 gene involved in CHARGE syndrome
PMID: 22461308
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Publications
More detailed information about this field from each metasource.
Mutation update on the CHD7 gene involved in CHARGE syndrome
PMID: 22461308
metasource: Fairsharing.org
version: None
-
Mutation update on the CHD7 gene involved in CHARGE syndrome
PubMed citations: 97.
97 articles citing: Mutation update on the CHD7 gene involved in CHARGE syndrome
Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report. PMID:35246073
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. PMID:34837038
Affordances for Motor Development in the Home Environment for Young Children with and without CHARGE Syndrome. PMID:34831689
CHARGE Syndrome Associated with Ocular Abnormalities: A Case Report with Treatment of Amblyopia and Refractive Correction. PMID:34729028
CHARGE syndrome protein CHD7 regulates epigenomic activation of enhancers in granule cell precursors and gyrification of the cerebellum. PMID:34588434
CHARGE syndrome: A case report of two new CDH7 gene mutations. PMID:34527879
Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation. PMID:34202106
Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics. PMID:34198563
Care of Children with DiGeorge Before and After Cultured Thymus Tissue Implantation. PMID:34003433
Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression. PMID:33900016
Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects. PMID:33815417
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. PMID:33418956
Sporadic Case of CHARGE Syndrome With Chromodomain-Helicase-DNA-Binding Protein 7 (CDH7) Gene Mutation. PMID:33391964
Inborn errors of thymic stromal cell development and function. PMID:33257998
The Intergenerational Impacts of Paternal Diet on DNA Methylation and Offspring Phenotypes in Sheep. PMID:33250925
Clinical and molecular characterization of COVID-19 hospitalized patients. PMID:33206719
CHD7 regulates cardiovascular development through ATP-dependent and -independent activities. PMID:33127760
CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty. PMID:32699053
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome. PMID:32625235
CHD7 missense variants and clinical characteristics of Chinese males with infertility. PMID:32573075
CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney. PMID:32509017
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. PMID:32502225
Phenotypic spectrum of typical CHARGE syndrome in a Chinese male neonate: a case report. PMID:32477919
A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis. PMID:32326958
CHD7 gene polymorphisms in female patients with idiopathic scoliosis. PMID:31924193
Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach. PMID:31534343
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report. PMID:31315586
A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients. PMID:31289371
Quantitative brain morphological analysis in CHARGE syndrome. PMID:31154243
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants. PMID:31146700
An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry. PMID:31134750
An update on the genetics of ocular coloboma. PMID:31073883
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES). PMID:30359267
Autism-linked CHD gene expression patterns during development predict multi-organ disease phenotypes. PMID:30277262
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study. PMID:30237300
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing. PMID:30181649
An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. PMID:29531775
CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development. PMID:29467333
Chromatin remodeler CHD7 regulates the stem cell identity of human neural progenitors. PMID:29440260
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome. PMID:29434620
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report. PMID:29321794
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. PMID:29255276
Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers. PMID:29196188
Atopic disorders in CHARGE syndrome: A retrospective study and literature review. PMID:29191495
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries. PMID:29171162
Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome. PMID:29168327
Reproductive endocrine phenotypes relating to CHD7 mutations in humans. PMID:29152903
Hearing loss and renal syndromes. PMID:29130116
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity. PMID:28616537
Regulation of nucleosome positioning by a CHD Type III chromatin remodeler and its relationship to developmental gene expression in Dictyostelium. PMID:28330902
Accurately annotate compound effects of genetic variants using a context-sensitive framework. PMID:28158838
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. PMID:27745839
ATP-dependent chromatin remodeling during mammalian development. PMID:27531948
CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery. PMID:27324890
A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome. PMID:27081570
Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion. PMID:26929907
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. PMID:26813943
Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome. PMID:26670829
Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome. PMID:26649128
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. PMID:26590800
Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study. PMID:26544072
Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome. PMID:26411921
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon. PMID:26334530
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. PMID:26105128
Clinical utility gene card for: CHARGE syndrome - update 2015. PMID:25689928
CHARGE syndrome: a review of the immunological aspects. PMID:25689927
Epigenetic Developmental Disorders: CHARGE syndrome, a case study. PMID:25685640
A novel CHD7 mutation in a Chinese patient with CHARGE syndrome. PMID:25606431
Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases. PMID:25567374
Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome. PMID:25553296
Guilty as CHARGED: p53's expanding role in disease. PMID:25483057
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. PMID:25472840
Exome sequencing for the diagnosis of 46,XY disorders of sex development. PMID:25383892
Architects of the genome: CHD dysfunction in cancer, developmental disorders and neurological syndromes. PMID:25333848
Transcriptional regulation by trithorax-group proteins. PMID:25274705
Epistatic interactions between Chd7 and Fgf8 during cerebellar development: Implications for CHARGE syndrome. PMID:25054096
CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia. PMID:24979395
The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development. PMID:24975120
CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment. PMID:24840056
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. PMID:24728844
Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome. PMID:24578717
Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome. PMID:24550764
Cerebellar Malformation: Deficits in early neural tube identity found in CHARGE syndrome. PMID:24368735
Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome. PMID:24368733
Different CHD chromatin remodelers are required for expression of distinct gene sets and specific stages during development of Dictyostelium discoideum. PMID:24301467
Colorectal carcinomas with CpG island methylator phenotype 1 frequently contain mutations in chromatin regulators. PMID:24211491
CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome. PMID:24026680
The trithorax group proteins Kismet and ASH1 promote H3K36 dimethylation to counteract Polycomb group repression in Drosophila. PMID:24004944
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. PMID:23956205
Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome. PMID:23920116
More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated. PMID:23885230
CHD7 gene polymorphisms and familial idiopathic scoliosis. PMID:23883829
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. PMID:23643381
Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. PMID:23285124
Clinical diagnosis by whole-genome sequencing of a prenatal sample. PMID:23215558
Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders. PMID:23134727
Unwinding and rewinding: double faces of helicase? PMID:22888405
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disease phenotype
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gene
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gene expression data
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genotype
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mutation
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phenotype
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Tags
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disease phenotype
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gene
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gene expression data
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genotype
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mutation
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phenotype
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disease phenotype gene gene expression genotype mutation phenotype
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