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Paediatric pseudo-obstruction syndrome

Gene: EDNRB

Green List (high evidence)
EDNRB (endothelin receptor type B)
EnsemblGeneIds (GRCh38): ENSG00000136160
EnsemblGeneIds (GRCh37): ENSG00000136160
OMIM: 131244, Gene2Phenotype
EDNRB is in 9 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. 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
Created: 3 Jan 2023, 2:50 p.m.
Last Modified: 3 Jan 2023, 2:50 p.m.
Panel version: 0.192

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 4A, OMIM:277580
  • {Hirschsprung disease, susceptibility to, 2}, OMIM:600155
  • ?ABCD syndrome, OMIM:600501
Tags
monogenic-polygenic
OMIM
131244
Clinvar variants
Variants in EDNRB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2023, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: EDNRB were set to

3 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ednrb 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: EDNRB.

3 Jan 2023, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

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

3 Jan 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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