ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)
  • Haploinsufficiency score: 3
  • Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
  • Haploinsufficiency Phenotype: CHARGE SYNDROME
Evidence for haploinsufficiency phenotype
PubMed ID Description
21158681 Large number of nonsense, missense, frameshift mutations described. Although rare, intragenic exonic deletions reported
16400610 Large number of nonsense, missense, frameshift mutations described, with 58% mutation detection rate.
19248844 Deletions in CHD7 are rare but whole-gene and partial gene deletions are reported.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

Although duplications of involving CHD7 have been described, the phenotypes have not been conclusively linked to CHD7 copy number gain specfically. Please see the following examples: PMID: 19772954 - One patient with a 7-Mb duplication including CHD7 reported to have hypotonia, developmental delay, and failure to thrive in infancy, cognitive impairment and multiple congenital anomalies, including Duane anomaly, Mondini malformation with associated deafness, external ear malformations, and atrial and ventricular septal defects. PMID: 18413373 - One patient with mental retardation and congenital abnormalities was found to have a duplication in 8q12 including CHD7. PMID: 21094707 - One patient with CHARGE syndrome-like features had had duplication 8q and deletion 4q derived from paternal translocation t(4;8)(q34;q22.1). CHD7 mutation or deletion was excluded.