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Newborns main panel

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. 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, 4:32 p.m. | Last Modified: 18 Nov 2025, 3:24 p.m.
Panel Version: 0.480
Created: 25 Sep 2024, 4:32 p.m.
Last Modified: 18 Nov 2025, 3:24 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 10 Oct 2023, 2:50 p.m. | Last Modified: 10 Oct 2023, 2:50 p.m.
Panel Version: 0.247
PMID: 34573371 (2 cases), PMID: 26991760 (1 family), PMID: 30022538 (1 family, homozygous large deletion), PMID: 11780064 (1 family), PMID: 20222921 (1 case),
Created: 14 Sep 2023, 3:21 p.m. | Last Modified: 14 Sep 2023, 3:21 p.m.
Panel Version: 0.238
Created: 14 Sep 2023, 3:21 p.m.
Last Modified: 14 Sep 2023, 3:21 p.m.
Panel version: 0.247

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
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 main panel. Sources: Expert Review Green Mode of inheritance for gene: EDARADD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDARADD were set to Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive