Epidermolysis bullosa and congenital skin fragility
Gene: EDA

EDA (ectodysplasin A)
EnsemblGeneIds (GRCh38): ENSG00000158813
EnsemblGeneIds (GRCh37): ENSG00000158813
OMIM: 300451, Gene2Phenotype
EDA is in 8 panels

1 review

David Kelsell (Queen Mary University of London)

Red List (low evidence)

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

Phenotypes
Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100; Skin peeling/scaling (newborn)

Created: 12 Dec 2016, 11:51 a.m.

Panel version: Imported from Peeling skin syndrome panel version 0.32

Details

Mode of Inheritance

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

Sources

Expert Review Red

Phenotypes

Skin peeling/scaling (newborn)
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: 1

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

Ellen McDonagh (Genomics England Curator)

gene: EDA was added gene: EDA was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red 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 Skin peeling/scaling (newborn); Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100