Ectodermal dysplasia without a known gene mutation
Gene: EDA
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hypohidrotic ectodermal dysplasia
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.
Promoted to version 1 10th August 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for EDA was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
EDA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN
Model of inheritance for gene EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
EDA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Emory Genetics Laboratory
EDA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
EDA was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
EDA was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Eligibility statement prior genetic testing