Paediatric pseudo-obstruction syndrome
Gene: EDN3
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
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
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
Gene: edn3 has been classified as Green List (High Evidence).
Tag monogenic-polygenic tag was added to gene: EDN3.
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
Publications for gene: EDN3 were set to
Phenotypes for gene: EDN3 were changed from to Waardenburg syndrome, type 4B, OMIM:613265; {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
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