Deafness_Isolated
Gene: EDN3EnsemblGeneIds (GRCh38): ENSG00000124205
EnsemblGeneIds (GRCh37): ENSG00000124205
OMIM: 131242, Gene2Phenotype
EDN3 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least three families reported in the literature, supportive animal model data.Created: 31 Dec 2019, 12:42 a.m. | Last Modified: 31 Dec 2019, 12:42 a.m.
Panel Version: 0.49
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Waardenburg syndrome, type 4B, MIM# 613265
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Deafness Flagship
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Waardenburg syndrome, type 4B, MIM# 613265
- OMIM
- 131242
- Clinvar variants
- Variants in EDN3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: edn3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EDN3 was added gene: EDN3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EDN3 were set to 8630502; 19764030; 11303518 Phenotypes for gene: EDN3 were set to Waardenburg syndrome, type 4B, MIM# 613265