Hirschsprung 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)

Variants in this gene have been reported in both isolated HD and syndromic HD, variable penetrance. However, the variants reported in PMID 9359047 with isolated HD are present at high frequencies in gnomad: p.Ala17Thr >800 hets in gnomad, p.Ala224Thr >100 hets. Association with syndromic neural crest disorders is more definitive, and HD is reported in a proportion of individuals.
Created: 19 Oct 2020, 4:57 a.m. | Last Modified: 19 Oct 2020, 4:57 a.m.

Panel Version: 0.4

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Central hypoventilation syndrome, congenital, MIM# 209880; Waardenburg syndrome, type 4B, MIM# 613265; {Hirschsprung disease, susceptibility to, 4}, MIM# 613712

Publications

Created: 19 Oct 2020, 4:57 a.m.
Last Modified: 19 Oct 2020, 4:57 a.m.
Panel version: 0.4

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Central hypoventilation syndrome, congenital, MIM# 209880
Waardenburg syndrome, type 4B, MIM# 613265
{Hirschsprung disease, susceptibility to, 4}, MIM# 613712

OMIM

131242

Clinvar variants

Variants in EDN3

Penetrance

None

Publications

Panels with this gene