EDAR

ectodysplasin A receptor
OMIM: 604095, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green EDAR 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, Dominant [Hair morphology 1, hair thickness], 612630 Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia [Hair morphology 1, hair thickness], 612630 -3 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490
Green EDAR 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 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 [Hair morphology 1, hair thickness], 612630 [Hair morphology 1, hair thickness], 612630 -3 Hypohidrotic Ectodermal Dysplasia, Dominant Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia
Red EDAR in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	Unknown	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900
Green EDAR in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Green EDAR 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 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900