Genomics England
GMS Panels
Panels
Genes and Entities

EDARADD

EDAR associated death domain
OMIM: 606603
PanelMode of inheritanceDetails
1 panel
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypohidrotic Ectodermal Dysplasia, Recessive, Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia, Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940, Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940