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Paediatric pseudo-obstruction syndrome

Gene: EDN3

Green List (high evidence)
EDN3 (endothelin 3)
EnsemblGeneIds (GRCh38): ENSG00000124205
EnsemblGeneIds (GRCh37): ENSG00000124205
OMIM: 131242, Gene2Phenotype
EDN3 is in 7 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Created: 1 Feb 2023, 7:44 a.m.
Last Modified: 1 Feb 2023, 7:44 a.m.
Panel version: 0.216

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Sufficient evidence to rate this gene as Green. >3 unrelated cases of EDN3 variants causing Waardenburg syndrome, type 4 (WS4). Note that WS4 is diagnosed when WS2 is accompanied by Hirschsprung disease. Hirschsprung's disease also occurs in ~16% of patients with congenital central hypoventilation syndrome/CCHS, which is also caused by EDN3 variants.
Created: 3 Jan 2023, 2:46 p.m. | Last Modified: 3 Jan 2023, 2:46 p.m.
Panel Version: 0.190
Added monogenic-polygenic tag based on co-occuring EDNRB variants reported in PMID:23840513.
Created: 3 Jan 2023, 2:46 p.m. | Last Modified: 3 Jan 2023, 2:46 p.m.
Panel Version: 0.189
Created: 3 Jan 2023, 2:46 p.m.
Last Modified: 3 Jan 2023, 2:46 p.m.
Panel version: 0.189

Eleanor Williams (Genomics England Curator)

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: Not given.
Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2

Mode of inheritance
Unknown

Phenotypes
monogenic syndrome with a variable predisposition to HSCR

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Waardenburg syndrome, type 4B, OMIM:613265
  • {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
Tags
monogenic-polygenic
OMIM
131242
Clinvar variants
Variants in EDN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

3 Jan 2023, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag monogenic-polygenic tag was added to gene: EDN3.

3 Jan 2023, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: EDN3 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

3 Jan 2023, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: EDN3 were set to

3 Jan 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EDN3 were changed from to Waardenburg syndrome, type 4B, OMIM:613265; {Hirschsprung disease, susceptibility to, 4}, OMIM:613712

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: EDN3 was added gene: EDN3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: EDN3 was set to