Ectodermal dysplasia without a known gene mutation
Gene: EDAR

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

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Hypohidrotic ectodermal dysplasia

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Found in 4/4 sources, multiple reports for different variants in OMIM and with an expert review - should be green.
Created: 22 Jul 2016, 1:52 p.m.

Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.
Created: 19 Nov 2015, 3:17 p.m.

Different mode of inheritances were obtained from different sources; Illumina stated "dominant" for the Hypohidrotic Ectodermal Dysplasia, Dominant phenotype, Emory stated both autosomal dominant and recessive, and UKGTN information stated that both modes of inheritance, but that the dominant form has milder expression (captured here by "BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal").
Created: 8 Oct 2015, 1:16 p.m.

Created: 22 Jul 2016, 1:52 p.m.

Panel version: 0.61

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900
[Hair morphology 1, hair thickness], 612630
[Hair morphology 1, hair thickness], 612630 -3
Hypohidrotic Ectodermal Dysplasia, Dominant
Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia

OMIM

604095

Clinvar variants

Variants in EDAR

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Mar 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for EDAR was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

22 Jul 2016, Gel status: 4