CHD7
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CHD7 (HGNC:20626) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
chromodomain helicase DNA binding protein 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CRG
Alias symbols
KIAA1416, FLJ20357, FLJ20361
%HI
2.4(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.11(Read more about gnomAD LOEUF score)
Cytoband
8q12.2
Genomic Coordinates
GRCh37/hg19: chr8:61591299-61780587 NCBI Ensembl UCSC
GRCh38/hg38: chr8:60678740-60868028 NCBI Ensembl UCSC
MANE Select Transcript
NM_017780.4 ENST00000423902.7 (Read more about MANE Select)
Function
Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. {ECO:0000269|PubMed:22646239}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33615
ClinGen Curation ID:
CCID:006855
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/11/2023

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 21158681
    The report describes molecular diagnostic testing of CHD7 for 642 patients with CHARGE syndrome from 2005 to 2010 at a diagnostic lab. 32% had a heterozygous CHD7 variant identified including 107 nonsense, 69 frameshifts, and 15 splice-site variants. Deletions/duplications of the entire gene or one/multi-exons were identified in 3 individuals.
  • PUBMED: 16400610
    110 individuals with CHARGE syndrome had CHD7 sequenced. Heterozygous variants were identified in 58%. 19 frameshift, 28 nonsense, and 5 consensus splice site variants were identified. 21 predicted loss-of-function variants were confirmed to occur de novo.
  • PUBMED: 19248844
    Multiplex ligation-dependent probe amplification was performed on 54 patients with CHARGE syndrome without a CHD7 variant. A partial deletion (exons 13-38) was identified in a single patient. Exon-level deletions/duplications do not appear to be a common cause of CHARGE syndrome.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Although duplications of CHD7 have been described, the associated phenotypes have not been conclusively linked to CHD7 copy number gain specifically. Please see the following examples: PMID: 19772954 - One patient with 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 was found to a 6.9 Mb duplication including at least 15 genes and CHD7. PMID: 18413373 - One patient with intellectual disability and congenital abnormalities was found to have a 3 Mb duplication in 8q12 including 8 genes and CHD7. PMID: 21094707 - One patient with CHARGE syndrome-like features had 50 Mb duplication on 8q and 10 Mb deletion on 4q derived from paternal translocation t(4;8)(q34;q22.1). No disease-associated CHD7 mutation was identified from sequencing the entire coding region and intron-exon boundaries.

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)