Genomics England
GMS Panels
Panels
Genes and Entities

CDH23

cadherin related 23
OMIM: 605516
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
USHER SYNDROME TYPE 1D 601067, DEAFNESS AUTOSOMAL RECESSIVE TYPE 12 601386
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hearing loss, Usher syndrome, type 1D, 601067, Deafness, autosomal recessive 12, 601386, Usher syndrome, type 1D/F digenic, 601067, Nonsyndromic Hearing Loss, Recessive
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders