Gastrointestinal neuromuscular disease
Gene: EDN3

EDN3 (endothelin 3)
EnsemblGeneIds (GRCh38): ENSG00000124205
EnsemblGeneIds (GRCh37): ENSG00000124205
OMIM: 131242, Gene2Phenotype
EDN3 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Decreased myenteric and submucosal ganglia in the bowel, including Hirschsprung's disease.
Created: 20 Jul 2021, 10:04 a.m. | Last Modified: 20 Jul 2021, 10:04 a.m.

Panel Version: 0.46

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Waardenburg syndrome, type 4B, MIM# 613265

Created: 20 Jul 2021, 10:04 a.m.
Last Modified: 20 Jul 2021, 10:04 a.m.
Panel version: 0.47

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Waardenburg syndrome, type 4B, MIM# 613265

OMIM

131242

Clinvar variants

Variants in EDN3

Penetrance

None

Panels with this gene

History Filter Activity

20 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: edn3 has been classified as Green List (High Evidence).

20 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EDN3 were changed from Waardenburg syndrome w/pigmentary abnormalities to Waardenburg syndrome, type 4B, MIM# 613265

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: EDN3 was added gene: EDN3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDN3 were set to Waardenburg syndrome w/pigmentary abnormalities

Gastrointestinal neuromuscular disease Gene: EDN3