EDAR

ectodysplasin A receptor
OMIM: 604095, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green EDAR 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 Phenotypes autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Green EDAR in Mendeliome Version 1.1891	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 EDAR 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 EDAR 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 10A, hypohidrotic/hair/nail type, autosomal dominant, MIM# 129490 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, MIM# 224900
Green EDAR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
Green EDAR 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, anhidrotic, Hair morphology
Green EDAR in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ectodermal dysplasia, hypohidrotic
Green EDAR in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
Red EDAR in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, 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