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CHD7 chromodomain helicase DNA binding protein 7

Gene ID: 55636, updated on 25-Jan-2022
Gene type: protein coding
Also known as: CRG; HH5; IS3; KAL5

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. [provided by RefSeq, Oct 2015]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
CHARGE associationSee labs
Genome-wide association study of lung function decline in adults with and without asthma.
GeneReviews: Not available
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
GeneReviews: Not available
Hypogonadotropic hypogonadism 5 with or without anosmiaSee labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-06)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
8q12.2
Sequence:
Chromosome: 8; NC_000008.11 (60678740..60868028)
Total number of exons:
42

Links

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