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Details of Gene

Item Details
Gene/Locus name

CDH23 (also called CDHR23)

Long Name

cadherin related 23 (OMIM 605516)

Laboratories
Associated Disorders

OMIM 617540 : Pituitary adenoma 5, multiple types
OMIM 601067 : Usher syndrome, type 1D
OMIM 601067 : Usher syndrome, type 1D/F digenic
OMIM 601386 : Deafness, autosomal recessive 12

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

HGNC Last Edit Date

3/06/2016