Hair disorders

Gene: EDAR

Green List (high evidence)

EDAR (ectodysplasin A receptor)
EnsemblGeneIds (GRCh38): ENSG00000135960
EnsemblGeneIds (GRCh37): ENSG00000135960
OMIM: 604095, Gene2Phenotype
EDAR is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

28 Jul 2020, Gel status: 3

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