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Newborns main panel

Gene: EDA

Green List (high evidence)
EDA (ectodysplasin A)
EnsemblGeneIds (GRCh38): ENSG00000158813
EnsemblGeneIds (GRCh37): ENSG00000158813
OMIM: 300451, Gene2Phenotype
EDA is in 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: 10-15% of cases are due to duplication/deletions.
Created: 25 Sep 2024, 4:28 p.m. | Last Modified: 25 Sep 2024, 4:28 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 4:28 p.m.
Last Modified: 25 Sep 2024, 4:28 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 10 Oct 2023, 2:48 p.m. | Last Modified: 10 Oct 2023, 2:48 p.m.
Panel Version: 0.247
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families - PubMed (nih.gov)
Created: 14 Sep 2023, 11:02 a.m. | Last Modified: 14 Sep 2023, 11:02 a.m.
Panel Version: 0.238
Created: 14 Sep 2023, 11:02 a.m.
Last Modified: 14 Sep 2023, 11:02 a.m.
Panel version: 0.247

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked
Tags
special_consideration
OMIM
300451
Clinvar variants
Variants in EDA
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: EDA.

14 Sep 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: EDA was added gene: EDA was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked