Ectodermal dysplasia

Gene: EDA

Green List (high evidence)

EDA (ectodysplasin A)
EnsemblGeneIds (GRCh38): ENSG00000158813
EnsemblGeneIds (GRCh37): ENSG00000158813
OMIM: 300451, Gene2Phenotype
EDA is in 9 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Hypohidrotic ectodermal dysplasia

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM and G2P.
Created: 22 Jul 2016, 1:46 p.m.
Comment on list classification: Green expert review and Is a confirmed DD gene for ectodermal dysplasia type 1.
Created: 22 Jul 2016, 1:45 p.m.
Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.
Created: 19 Nov 2015, 3:17 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 1 hypohidrotic X-linked
  • Tooth agenesis, selective, X-linked 1, 313500
  • Hypohidrotic Ectodermal Dysplasia
  • Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
OMIM
300451
Clinvar variants
Variants in EDA
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: EDA was added gene: EDA was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EDA were set to Ectodermal dysplasia 1 hypohidrotic X-linked; Tooth agenesis, selective, X-linked 1, 313500; Hypohidrotic Ectodermal Dysplasia; Ectodermal Dysplasia 1, Hypohidrotic, X-Linked; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100