Deafness and congenital structural abnormalities
Gene: EDNRA

EDNRA (endothelin receptor type A)
EnsemblGeneIds (GRCh38): ENSG00000151617
EnsemblGeneIds (GRCh37): ENSG00000151617
OMIM: 131243, Gene2Phenotype
EDNRA is in 5 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: "Activating" variants indicated in Gene2Phenotype.
Created: 14 Oct 2016, 11:38 a.m.

Comment on list classification: Green on the Familial hemifacial microsomia (Version 0.148) due to expert review and additional curated evidence.
Created: 14 Oct 2016, 11:04 a.m.

Comment on list classification: Gene added by Maria Bitner-Glindzicz (UCL) to the Bilateral Microtia panel.
Created: 12 Sep 2016, 2:55 p.m.

Created: 12 Sep 2016, 2:55 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.77

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Two variants reported, one in three unrelated cases and the other as a de novo variant. Evidence for mosaicism presented (PMID 25772936)
Created: 8 Sep 2016, 10:30 a.m.

Comment on list classification: Expert review
Created: 8 Sep 2016, 10:28 a.m.

Comment on phenotypes: Also associated with Migraine, resistance to 157300
Created: 8 Sep 2016, 10:24 a.m.

Created: 8 Sep 2016, 10:24 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.27

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

ORPHA443995: Mandibulofacial dysostosis with alopecia
OMIM 616367: Mandibulofacial dysostosis with alopecia

Created: 1 Aug 2016, 11:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
mandibulofacial dysostosis; alopecia; bilateral microtia

Publications

PMID: 25772936

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Aug 2016, 11:40 a.m.

Panel version: Imported from "Bilateral microtia" panel version 1.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Expert Review

Phenotypes

Mandibulofacial dysostosis with alopecia, 616367
mandibulofacial dysostosis
alopecia
bilateral microtia

Tags

mosaicism

OMIM

131243

Clinvar variants

Variants in EDNRA

Penetrance

Complete

Publications

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene