Clefting
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
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
- MFDA
- Cleft palate
- OMIM
- 131243
- Clinvar variants
- Variants in EDNRA
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
13 Aug 2018, Gel status: 4
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to EDNRA. Panel: Clefting Phenotypes for gene EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MFDA, Cleft palate
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)EDNRA was created by ellenmcdonagh
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)EDNRA was added to Cleftingpanel. Sources: Expert Review Green