Ectodermal dysplasia

Gene: EDARADD

Green List (high evidence)

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.