Oligodontia
Gene: EDAR

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

Created: 18 Mar 2022, 9:26 a.m.
Last Modified: 18 Mar 2022, 9:26 a.m.
Panel version: Imported from Mendeliome panel version 0.11547

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

Phenotypes

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

OMIM

604095

Clinvar variants

Variants in EDAR

Penetrance

None

Publications

Panels with this gene