CDH23
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CDH23 (HGNC:13733) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cadherin related 23
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB12, USH1D
Alias symbols
CDHR23
%HI
15.83(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.69(Read more about gnomAD LOEUF score)
Cytoband
10q22.1
Genomic Coordinates
GRCh37/hg19: chr10:73156677-73575704 NCBI Ensembl UCSC
GRCh38/hg38: chr10:71396920-71815947 NCBI Ensembl UCSC
MANE Select Transcript
NM_022124.6 ENST00000224721.12 (Read more about MANE Select)
Function
Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for norma... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2528
ClinGen Curation ID:
CCID:006820
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Inherited auditory system disease Monarch
HI Evidence Comments:
Variation in CDH23 has been reported in individuals with Usher syndrome 1 (USH1) and autosomal recessive nonsyndromic hearing loss (ARNSHL); furthermore, the overall evidence that CDH23, when altered, can cause USH1 was expert reviewed by the ClinGen Hearing Loss Working Group (HLWG) and classified as DEFINITIVE. The evidence supporting the association between CDH23 and ARNSHL was also classified as DEFINITIVE by the ClinGen HLWG after primary curation.

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)