Rare genetic inflammatory skin disorders
Gene: EDA
High evidence supporting gene to listed phenotype, but is ectodermal dysplasia appropriate for ISD? Other phenotype?Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
Publications
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: EDA; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Red was added to EDA. Added phenotypes ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED for gene: EDA Publications for gene EDA were changed from to 9683615 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source London North GLH was added to EDA.
gene: EDA was added gene: EDA was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS 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