Genomics England
GMS Panels
Panels
Genes and Entities

CDH3

cadherin 3
OMIM: 114021
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EEM SYNDROME 225280, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotrichosis, congenital, with juvenile macular dystrophy, 601553, Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EEM SYNDROME, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280, i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553, Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280, Macular Dystrophy/Degeneration/Stargardt Disease, Eye Disorders
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280