PanelApp (staging)
  1. Genes and Genomic Entities
  2. CDH3

CDH3

cadherin 3
OMIM: 114021, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green CDH3 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280
  • Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553

Green CDH3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280

Green CDH3 in Macular Dystrophy/Stargardt Disease


Level 2: Ophthalmological disorders
Version 0.45

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
    • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553

    Green CDH3 in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.86

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280
    • Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553

    Green CDH3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)

    Green CDH3 in Hair disorders


    Level 2: Dermatological disorders
    Version 0.71

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553

    Green CDH3 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280

    Green CDH3 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280

    Green CDH3 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280
    • Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553