Paediatric pseudo-obstruction syndrome
Gene: EDNRB
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. Mouse model of colonic aganglionosis plus >3 unrelated cases supporting gene:disease association (e.g. PMID:20009762, 10528251, 25852447, 16618617).Created: 3 Jan 2023, 2:51 p.m. | Last Modified: 3 Jan 2023, 2:51 p.m.
Panel Version: 0.193
Added monogenic-polygenic tag based on co-occuring RET variants reported in PMID:10458491 and 10664228. And co-occuring EDN3 variant reported in PMID:23840513 .Created: 3 Jan 2023, 2:50 p.m. | Last Modified: 3 Jan 2023, 2:50 p.m.
Panel Version: 0.192
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
Publications for gene: EDNRB were set to
Gene: ednrb has been classified as Green List (High Evidence).
Tag monogenic-polygenic tag was added to gene: EDNRB.
Mode of inheritance for gene: EDNRB was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome, type 4A, OMIM:277580; {Hirschsprung disease, susceptibility to, 2}, OMIM:600155; ?ABCD syndrome, OMIM:600501
gene: EDNRB was added gene: EDNRB was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: EDNRB was set to