Ectodermal dysplasia without a known gene mutation
Gene: EDARADD
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypohidrotic ectodermal dysplasia
Comment on list classification: Found in 4/4 original sources, green expert review, 2 reports in OMIM and multiple more recent reports and evidence (see publications).Created: 22 Jul 2016, 2:10 p.m.
Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.Created: 19 Nov 2015, 3:17 p.m.
Different mode of inheritances were obtained from different sources; Illumina and Emory stated a recessive mode of inheritance, whereas UKGTN information stated that both modes of inheritance, but that the dominant form has milder expression (captured here by "BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal").Created: 8 Oct 2015, 1:18 p.m.
Mode of inheritance for EDARADD was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Promoted to version 1 10th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for EDARADD were set to 26991760; 26440664; 25206167 (review); 22013926 (rat model); 21626677; 20477971; 20222921
Phenotypes for EDARADD were set to 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
Model of inheritance for gene EDARADD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
EDARADD was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN
EDARADD was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Emory Genetics Laboratory
EDARADD was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Illumina TruGenome Clinical Sequencing Services
EDARADD was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
EDARADD was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
EDARADD was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Eligibility statement prior genetic testing