Desmosomal disorders
Gene: EDARADDEnsemblGeneIds (GRCh38): ENSG00000186197
EnsemblGeneIds (GRCh37): ENSG00000186197
OMIM: 606603, Gene2Phenotype
EDARADD is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884
- autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
- OMIM
- 606603
- Clinvar variants
- Variants in EDARADD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: EDARADD were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: EDARADD were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: EDARADD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EDARADD was added gene: EDARADD was added to Desmosomal disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EDARADD was set to Unknown