Identity
HGNC
LOCATION
8q12.2
LOCUSID
ALIAS
CRG,HH5,IS3,KAL5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55636
MIM: 608892
HGNC: 20626
Ensembl: ENSG00000171316
Variants:
dbSNP: 55636
ClinVar: 55636
TCGA: ENSG00000171316
COSMIC: CHD7
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37273125 | 2024 | A novel CHD7 variant in a chinese family with CHARGE syndrome. | 1 |
| 38057991 | 2024 | Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome. | 0 |
| 38408234 | 2024 | CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development. | 1 |
| 38790272 | 2024 | CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction. | 0 |
| 37273125 | 2024 | A novel CHD7 variant in a chinese family with CHARGE syndrome. | 1 |
| 38057991 | 2024 | Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome. | 0 |
| 38408234 | 2024 | CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development. | 1 |
| 38790272 | 2024 | CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction. | 0 |
| 36715725 | 2023 | The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear. | 1 |
| 36794641 | 2023 | Expanding the reproductive organ phenotype of CHD7-spectrum disorder. | 0 |
| 36715725 | 2023 | The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear. | 1 |
| 36794641 | 2023 | Expanding the reproductive organ phenotype of CHD7-spectrum disorder. | 0 |
| 34663690 | 2022 | HERVH-derived lncRNAs negatively regulate chromatin targeting and remodeling mediated by CHD7. | 2 |
| 35446972 | 2022 | [Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene]. | 1 |
| 35773757 | 2022 | [Analysis of CHD7 gene variants in 22 patients with idiopathic hypogonadotropic hypogonadism]. | 0 |
Citation
Dessen P
CHD7 (chromodomain helicase DNA binding protein 7)
Atlas Genet Cytogenet Oncol Haematol. 2012-11-01
Online version: http://atlasgeneticsoncology.org/gene/52981/chd7-(chromodomain-helicase-dna-binding-protein-7)
