Ectodermal dysplasia
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.
gene: EDARADD was added gene: EDARADD was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: EDARADD were set to 20477971; 21626677; 26440664; 22013926 (rat model); 26991760; 20222921; 25206167 (review) Phenotypes for gene: EDARADD were set to 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