EDARADD

EDAR associated death domain
OMIM: 606603, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EDARADD 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, Recessive
  • Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941
  • Hypohidrotic ectodermal dysplasia
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940

Green EDARADD 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
  • Hypohidrotic ectodermal dysplasia
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940
  • Hypohidrotic Ectodermal Dysplasia, Recessive
  • Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia

Green EDARADD 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 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940