1. Panels
  2. Newborns additional phenotypes panel 1
  3. EDARADD
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns additional phenotypes panel 1

Gene: EDARADD

Green List (high evidence)
EDARADD (EDAR associated death domain)
EnsemblGeneIds (GRCh38): ENSG00000186197
EnsemblGeneIds (GRCh37): ENSG00000186197
OMIM: 606603, Gene2Phenotype
EDARADD is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD (LOF and DN) and AR (LOF) forms of Ectodermal dysplasia are included, but unclear if all LOF variants would be expected to lead to the phenotype in heterozygous state. EDARADD has two isoforms, each w/6 exons encoding 205 & 215 amino acid proteins (NM_080738.3 and NM_145861.2, respectively).
Created: 25 Sep 2024, 4:33 p.m. | Last Modified: 18 Nov 2025, 3:25 p.m.
Panel Version: 0.102
Created: 25 Sep 2024, 4:33 p.m.
Last Modified: 18 Nov 2025, 3:25 p.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) and dominant-negative (DN).
Created: 10 Oct 2023, 2:50 p.m. | Last Modified: 10 Oct 2023, 2:50 p.m.
Panel Version: 0.50
Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review - PubMed (nih.gov)
Created: 14 Sep 2023, 3:20 p.m. | Last Modified: 14 Sep 2023, 3:20 p.m.
Panel Version: 0.46
Created: 14 Sep 2023, 3:20 p.m.
Last Modified: 14 Sep 2023, 3:20 p.m.
Panel version: 0.50

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Tags
special_consideration
OMIM
606603
Clinvar variants
Variants in EDARADD
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: EDARADD.

14 Sep 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: EDARADD was added gene: EDARADD was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EDARADD were set to Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant