Hair disorders
Gene: EDAREnsemblGeneIds (GRCh38): ENSG00000135960
EnsemblGeneIds (GRCh37): ENSG00000135960
OMIM: 604095, Gene2Phenotype
EDAR is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association. Hypohidrotic ectodermal dysplasia (HED) is characterised by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). Biallelic loss-of-function variants cause early onset classic HED, whereas monoallelic dominant-negative variants cause mild HED.Created: 18 Mar 2022, 9:26 a.m. | Last Modified: 18 Mar 2022, 9:26 a.m.
Panel Version: 0.11547
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, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Literature
- Phenotypes
-
- Ectodermal dysplasia, anhidrotic, Hair morphology
- OMIM
- 604095
- Clinvar variants
- Variants in EDAR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: EDAR was added gene: EDAR was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EDAR were set to 31332722 Phenotypes for gene: EDAR were set to Ectodermal dysplasia, anhidrotic, Hair morphology