Hair disorders
Gene: EDA

EDA (ectodysplasin A)
EnsemblGeneIds (GRCh38): ENSG00000158813
EnsemblGeneIds (GRCh37): ENSG00000158813
OMIM: 300451, Gene2Phenotype
EDA is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association for X-linked hypohidrotic ectodermal dysplasia, with an X-linked recessive inheritance. Loss of function is the mechanism of disease. Specific variants with residual function cause selective tooth agenesis, which has an X-linked dominant inheritance (female carriers are unaffected or have a milder phenotype).
Created: 14 Mar 2022, 5:07 a.m. | Last Modified: 14 Mar 2022, 5:07 a.m.

Panel Version: 0.11307

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500

Publications

Created: 14 Mar 2022, 5:07 a.m.
Last Modified: 14 Mar 2022, 5:07 a.m.
Panel version: Imported from Mendeliome panel version 0.11307

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Expert Review Green
Literature

Phenotypes

Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective

OMIM

300451

Clinvar variants

Variants in EDA

Penetrance

None

Publications

31332722

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: EDA was added gene: EDA was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EDA were set to 31332722 Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective

Hair disorders Gene: EDA