Deafness and congenital structural abnormalities

Gene: EDNRA

Green List (high evidence)

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.

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.

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

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

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

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for EDNRA was changed to Other - please provide details in the comments

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for EDNRA were set to Mandibulofacial dysostosis with alopecia, 616367;mandibulofacial dysostosis; alopecia; bilateral microtia

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for EDNRA were set to 25772936; 11711438; 9449664; 16116593; 20583178

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

EDNRA was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review,Radboud University Medical Center, Nijmegen

14 Oct 2016, Gel status: 2

clearsources

Ellen McDonagh (Genomics England Curator)

EDNRAAll sources for gene: EDNRA were removed

5 Oct 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

EDNRA was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Green

5 Oct 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

EDNRA was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Amber

5 Oct 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EDNRA was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review,Radboud University Medical Center, Nijmegen

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EDNRA was created by sleigh