EDARADD

EDAR associated death domain
OMIM: 606603, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green EDARADD in Desmosomal disorders Level 2: Dermatological disorders Version 0.33	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Phenotypes autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Green EDARADD in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services
Green EDARADD in Oligodontia Level 2: Dysmorphic and congenital abnormality syndromes Version 0.29	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Green EDARADD in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.86	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Ectodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessive
Green EDARADD in Hair disorders Level 2: Dermatological disorders Version 0.71	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Phenotypes Ectodermal dysplasia, hypohidrotic Ectodermal dysplasia, anhidrotic
Green EDARADD in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Ectodermal dysplasia, hypohidrotic
Red EDARADD in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619