EDAR

ectodysplasin A receptor
OMIM: 604095, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green EDAR in Desmosomal disorders Level 2: Dermatological disorders Version 0.33	1 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 1.2302	1 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	1 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	2 reviews	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	0 reviews	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	1 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	0 reviews	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 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Red EDAR in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 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