EDAR

ectodysplasin A receptor
OMIM: 604095, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green EDAR in Ectodermal dysplasia


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

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypohidrotic Ectodermal Dysplasia, Dominant
  • [Hair morphology 1, hair thickness], 612630
  • Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia
  • [Hair morphology 1, hair thickness], 612630 -3
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490

Green EDAR in Ectodermal dysplasia without a known gene mutation

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

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900
  • [Hair morphology 1, hair thickness], 612630
  • [Hair morphology 1, hair thickness], 612630 -3
  • Hypohidrotic Ectodermal Dysplasia, Dominant
  • Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia

Red EDAR in Fetal anomalies


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

review Unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900

Green EDAR in DDG2P


Version 2.44
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
    • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

    Green EDAR in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490
    • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900