CDH23 Chromosome 10
Cadherin related 23
Upload your DNA to see your personal genotypes for variants in CDH23.
What This Gene Does
This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
Gene Info
Gene Group
"Cadherin related|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000107736
Associated Conditions (46)
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Usher syndrome type 1
CDH23-related disorder
Retinal dystrophy
Inborn genetic diseases
Usher syndrome
Cone-rod dystrophy
Pituitary adenoma 5
multiple types
Usher syndrome type 2
Childhood onset hearing loss
Nonsyndromic genetic hearing loss
Meniere disease
VATER association
Hearing impairment
Intellectual disability
Retinitis pigmentosa-deafness syndrome
Neurodevelopmental abnormality
Rare genetic deafness
+26 more conditions
Key Variants
RS11000008
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, Usher syndrome type 1
Health Risk
RS111033369
Conflicting classifications of pathogenicity
Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1
Health Risk
RS111033453
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, Usher syndrome type 1
Health Risk
RS111033457
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, Usher syndrome type 1
Health Risk
RS111033458
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, Usher syndrome type 1
Health Risk
RS111033461
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, Usher syndrome type 1
Health Risk
RS111033475
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS111033480
Conflicting classifications of pathogenicity
Usher syndrome type 1D, Usher syndrome, Inborn genetic diseases
Health Risk
RS111033483
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, Usher syndrome type 1
Health Risk
RS111033487
Conflicting classifications of pathogenicity
Usher syndrome type 1, Usher syndrome type 1
Health Risk
RS111033488
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, Usher syndrome type 1
Health Risk
RS111033489
Conflicting classifications of pathogenicity
Health Risk
All Variants (869)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2132968121 | Health Risk | Pathogenic | Usher syndrome, Pituitary adenoma 5, multiple types |
| RS2132971817 | Health Risk | Pathogenic | — |
| RS2132978502 | Health Risk | Pathogenic | — |
| RS2132978731 | Health Risk | Pathogenic | — |
| RS2132983525 | Health Risk | Pathogenic | — |
| RS2132984089 | Health Risk | Pathogenic | Pituitary adenoma 5, multiple types, Pituitary adenoma 5 |
| RS2132988621 | Health Risk | Pathogenic | — |
| RS2132988732 | Health Risk | Pathogenic | — |
| RS2132990504 | Health Risk | Pathogenic | — |
| RS2133001560 | Health Risk | Pathogenic | — |
| RS2133003011 | Health Risk | Pathogenic | — |
| RS2133003145 | Health Risk | Pathogenic | Pituitary adenoma 5, multiple types, Pituitary adenoma 5 |
| RS2133006702 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12 |
| RS2133007155 | Health Risk | Pathogenic | — |
| RS2478010687 | Health Risk | Pathogenic | — |
| RS2492822470 | Health Risk | Pathogenic | Usher syndrome, Usher syndrome |
| RS2492822533 | Health Risk | Pathogenic | — |
| RS2493189700 | Health Risk | Pathogenic | — |
| RS2493195989 | Health Risk | Pathogenic | — |
| RS2493197439 | Health Risk | Pathogenic | — |
| RS2493463036 | Health Risk | Pathogenic | — |
| RS2493821002 | Health Risk | Pathogenic | — |
| RS2493821059 | Health Risk | Pathogenic | — |
| RS2493938246 | Health Risk | Pathogenic | — |
| RS2493938342 | Health Risk | Pathogenic | Usher syndrome, Usher syndrome |
| RS2493960610 | Health Risk | Pathogenic | Usher syndrome, Usher syndrome |
| RS2493961296 | Health Risk | Pathogenic | — |
| RS2494016040 | Health Risk | Pathogenic | — |
| RS2494021726 | Health Risk | Pathogenic | Usher syndrome type 1, Usher syndrome type 1 |
| RS2494022078 | Health Risk | Pathogenic | — |
| RS2494047144 | Health Risk | Pathogenic | — |
| RS2494051576 | Health Risk | Pathogenic | — |
| RS2494061572 | Health Risk | Pathogenic | Usher syndrome, Usher syndrome |
| RS2494061798 | Health Risk | Pathogenic | — |
| RS2494071047 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12 |
| RS2494071154 | Health Risk | Pathogenic | — |
| RS2494071243 | Health Risk | Pathogenic | — |
| RS2494092971 | Health Risk | Pathogenic | — |
| RS2494152903 | Health Risk | Pathogenic | — |
| RS2494186407 | Health Risk | Pathogenic | — |
| RS2494209594 | Health Risk | Pathogenic | — |
| RS2494214067 | Health Risk | Pathogenic | — |
| RS2494217685 | Health Risk | Pathogenic | — |
| RS2494218111 | Health Risk | Pathogenic | — |
| RS2494337734 | Health Risk | Pathogenic | — |
| RS2494343833 | Health Risk | Pathogenic | — |
| RS2494344104 | Health Risk | Pathogenic | — |
| RS2494344629 | Health Risk | Pathogenic | — |
| RS2494356918 | Health Risk | Pathogenic | — |
| RS2494359300 | Health Risk | Pathogenic | — |