This Panel is marked as Retired
Bilateral microtia
Gene: EDNRA
EDNRA (endothelin receptor type A)
EnsemblGeneIds (GRCh38): ENSG00000151617
EnsemblGeneIds (GRCh37): ENSG00000151617
OMIM: 131243, Gene2Phenotype
EDNRA is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000151617
EnsemblGeneIds (GRCh37): ENSG00000151617
OMIM: 131243, Gene2Phenotype
EDNRA is in 5 panels
1 review
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Radboud University Medical Center, Nijmegen
- OMIM
- 131243
- Clinvar variants
- Variants in EDNRA
- Penetrance
- Complete
- Publications
-
- PMID 25772936
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
5 Oct 2016, Gel status: 1
Approved Gene
Sarah Leigh (Genomics England Curator)This proposed gene was validated and added to this panel
13 May 2016, Gel status: 0
Upload gene information
Sarah Leigh (Genomics England Curator)EDNRA was added to Bilateral microtiapanel. Sources: Radboud University Medical Center, Nijmegen
13 May 2016, Gel status: 0
Upload gene information
Sarah Leigh (Genomics England Curator)EDNRA was added to Bilateral microtiapanel. Sources: Radboud University Medical Center, Nijmegen
3 Apr 2016, Gel status: 0
Created
Maria Bitner-Glindzicz (UCL)EDNRA was created by mbitnerg
3 Apr 2016, Gel status: 0
Added New Source
Maria Bitner-Glindzicz (UCL)EDNRA was added to Bilateral microtiapanel. Sources: Expert Review