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  2. Newborns additional phenotypes panel 1
  3. EDAR
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Newborns additional phenotypes panel 1

Gene: EDAR

Green List (high evidence)
EDAR (ectodysplasin A receptor)
EnsemblGeneIds (GRCh38): ENSG00000135960
EnsemblGeneIds (GRCh37): ENSG00000135960
OMIM: 604095, Gene2Phenotype
EDAR is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD (DN) and AR (LOF) forms of Ectodermal dysplasia are included.
Created: 25 Sep 2024, 4:29 p.m. | Last Modified: 18 Nov 2025, 3:23 p.m.
Panel Version: 0.102
Created: 25 Sep 2024, 4:29 p.m.
Last Modified: 18 Nov 2025, 3:23 p.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 10 Oct 2023, 2:49 p.m. | Last Modified: 10 Oct 2023, 2:49 p.m.
Panel Version: 0.50
PMID: 31245878 (10 AD variants reported, refs 2, 14, 17-20)
Created: 14 Sep 2023, 3:19 p.m. | Last Modified: 14 Sep 2023, 3:19 p.m.
Panel Version: 0.46
Created: 14 Sep 2023, 3:19 p.m.
Last Modified: 14 Sep 2023, 3:19 p.m.
Panel version: 0.50

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Tags
special_consideration
OMIM
604095
Clinvar variants
Variants in EDAR
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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: EDAR.

14 Sep 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: EDAR was added gene: EDAR was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: EDAR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Mode of pathogenicity for gene: EDAR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments