Ectodermal dysplasia
Gene: EDAR
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.
gene: EDAR was added gene: EDAR was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: EDAR were set to Hypohidrotic Ectodermal Dysplasia, Dominant; [Hair morphology 1, hair thickness], 612630; Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia; [Hair morphology 1, hair thickness], 612630 -3; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490