CDH23
Chr 10ADARDigenic recessivecadherin related 23
CDH23 encodes a calcium-dependent cell adhesion protein required for proper organization of stereocilia bundles in cochlear and vestibular hair cells and normal hearing. Mutations cause autosomal recessive nonsyndromic deafness (DFNB12), Usher syndrome type 1D (combining congenital deafness with progressive vision loss), and digenic forms of Usher syndrome, with some cases showing autosomal dominant inheritance. The gene is not loss-of-function intolerant (pLI near zero), suggesting recessive mutations typically cause disease through effects on protein function rather than simple protein loss.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CDH23 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools