Genomics England
GMS Panels
Panels
Genes and Entities

PCDH15

protocadherin related 15
OMIM: 605514
PanelMode of inheritanceDetails
2 panels
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonsyndromic Hearing Loss, Recessive, Usher syndrome, type 1F, 602083, hearing loss, Deafness, autosomal recessive 23, 609533, Usher syndrome, type1D/F digenic, 601067
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Usher syndrome Type 1F, non-syndromic deafness, Usher syndrome, type 1D/F digenic, Eye Disorders