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)
Triplosensitivity:
Not Yet Evaluated
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)