Deafness and congenital structural abnormalities
Gene: EDNRAComment 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.
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 reviewCreated: 8 Sep 2016, 10:28 a.m.
Comment on phenotypes: Also associated with Migraine, resistance to 157300Created: 8 Sep 2016, 10:24 a.m.
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
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.
Mode of pathogenicity for EDNRA was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for EDNRA were set to Mandibulofacial dysostosis with alopecia, 616367;mandibulofacial dysostosis; alopecia; bilateral microtia
Publications for EDNRA were set to 25772936; 11711438; 9449664; 16116593; 20583178
This gene has been classified as Green List (High Evidence).
EDNRA was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review,Radboud University Medical Center, Nijmegen
EDNRAAll sources for gene: EDNRA were removed
EDNRA was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Green
EDNRA was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Amber
EDNRA was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review,Radboud University Medical Center, Nijmegen
EDNRA was created by sleigh