Ectodermal dysplasia

Gene: EDAR

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 when marking as ready: Found in 4/4 sources, multiple reports for different variants in OMIM and with an expert review - should be green.

Created: 22 Jul 2016, 1:52 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 stated "dominant" for the Hypohidrotic Ectodermal Dysplasia, Dominant phenotype, Emory stated both autosomal dominant and recessive, and 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, 1:16 p.m.