CDH3

cadherin 3
OMIM: 114021, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red CDH3 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.39

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red CDH3 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review Not set
Sources
  • Emory Genetics Laboratory

Green CDH3 in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

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

Green CDH3 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.22

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280

Green CDH3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.126
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

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

    Green CDH3 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EEM SYNDROME
    • HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY

    Green CDH3 in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EEM SYNDROME 225280
    • HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553

    Red CDH3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
    • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280

    Green CDH3 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.209
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    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

    Red CDH3 in Structural eye disease


    Version 1.81
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
    • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
    • Eye Disorders

    Green CDH3 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
    • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553