Ectodermal Dysplasia
Gene: EDARADD

EDARADD (EDAR associated death domain)
EnsemblGeneIds (GRCh38): ENSG00000186197
EnsemblGeneIds (GRCh37): ENSG00000186197
OMIM: 606603, Gene2Phenotype
EDARADD is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
PMID: 11780064, 26991760, 34573371 - at least 4 families with biallelic variants reported with classic HED. Heterozygous carriers are unaffected
PMID: 17354266, 20979233, 26440664, 34219261 - at least 3 cases/families with monoallelic variants reported with milder HED. The dominantly inherited variants reported have been shown in functional assays to be loss-of-function, whereas a variant associated with the recessive form had partial loss-of-function (hypomorph).
Created: 18 Mar 2022, 11:06 p.m. | Last Modified: 18 Mar 2022, 11:06 p.m.

Panel Version: 0.11550

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 18 Mar 2022, 11:06 p.m.
Last Modified: 18 Mar 2022, 11:06 p.m.
Panel version: Imported from Mendeliome panel version 0.11550

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Royal Melbourne Hospital

Phenotypes

Ectodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessive

OMIM

606603

Clinvar variants

Variants in EDARADD

Penetrance

None

Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EDARADD was added gene: EDARADD was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessive

Ectodermal Dysplasia Gene: EDARADD