ClinGen Dosage Sensitivity Curation Page
CDH23
- Curation Status: Complete
- id: ISCA-2528
- Date last evaluated: 2016-08-22
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about CDH23 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/64072
- OMIM: https://omim.org/entry/605516
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CDH23%5Bgenesymbol%5D
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: Not yet evaluated
- ExAC pLI score: 0.051
Select assembly:
(NC_000010.10)
(NC_000010.11)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
Haploinsufficiency phenotype 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 score: Not yet evaluated
- Strength of Evidence (disclaimer): Not yet evaluated