EDARADD

EDAR associated death domain
OMIM: 606603, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green EDARADD in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 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
Green EDARADD in Ectodermal dysplasia without a known gene mutation Level 3: Ectodermal dysplasias Level 2: Dermatological disorders Version 1.28	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Hypohidrotic ectodermal dysplasia Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940 Hypohidrotic Ectodermal Dysplasia, Recessive Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia
Green EDARADD in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940