Ectodermal dysplasia without a known gene mutation
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.
Mode of inheritance for EDAR 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).
Model of inheritance for gene EDAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
EDAR was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN
EDAR was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Emory Genetics Laboratory
EDAR was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Illumina TruGenome Clinical Sequencing Services
EDAR was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
EDAR was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
EDAR was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Eligibility statement prior genetic testing