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Familial Hirschsprung Disease

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

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as ready: September 4th 2017.
Created: 4 Sep 2017, 11:28 a.m.
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 Aug 2017, 11:16 a.m.
PMID:10458491 (Sakai et al., 1999) identify point variants in both RET and EDNRB (in the 5'UTR) in a Hirschsprung patient with Down syndrome and suggest that RET and EDNRB may interact in the HSCR phenotype. The 5'UTR variant was also reported in 2 patients in PMID:10664228 (2000).
Created: 3 Aug 2017, 11:13 a.m.
PMID:10664228 (2000) report 2 disease-causing variants in EDNRB in sporadic Japanese patients with Hirschsprung disease, including a novel A310T variant.
Created: 3 Aug 2017, 11:10 a.m.
Comment on list classification: Updated rating from Amber to Green: Green expert review plus mouse model of colonic aganglionosis plus >3 unrelated cases supporting gene:disease association (e.g. PMID:20009762, 10528251, 25852447, 16618617).
Created: 3 Aug 2017, 8:56 a.m.
PMID:10090908 (Auricchio et al 1999) suggest a polygenic interaction between RET and EDNRB in Hirschsprung's disease. However, Lek et al., 2016 (PMID: 27535533) question the validity of the EDNRB variant (S305N) in these patients as a susceptibility allele.
Created: 3 Aug 2017, 8:53 a.m.
Comment on publications: Publications include case studies and mouse models.
Created: 3 Aug 2017, 8:49 a.m.
Comment on mode of inheritance: Updated MOI to reflect suggestion by expert reviewer, Erwin Brosens. OMIM supports a biallelic and monoallelic MOI.
Created: 3 Aug 2017, 8:37 a.m.
Mouse model summarised in PMID:27370713, including Aganglionosis in distal colon.
Created: 1 Jun 2017, 3:34 p.m.
Created: 3 Aug 2017, 11:14 a.m.

Panel version: 0.107

Erwin Brosens (Erasmus MC)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Aug 2017, 6:20 a.m.

Panel version: 0.83

Sumita Chhabra (University of Liverpool / Alder Hey Children's Hospital)

animal model confirmation. functional test confirming deleterious variants
Created: 8 May 2017, 10:36 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 May 2017, 10:36 a.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
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Alder Hey - Erasmus MC
Phenotypes
  • Waardenburg syndrome, type 4A, OMIM:277580
  • {Hirschsprung disease, susceptibility to, 2}, OMIM:600155
  • ?ABCD syndrome, OMIM:600501
  • Colonic aganglionosis
  • Shah-Waardenburg syndrome
  • Long-segment Hirschsprung's disease
  • Short-segment Hirschsprung's disease
Tags
monogenic-polygenic
OMIM
131244
Clinvar variants
Variants in EDNRB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Jan 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EDNRB were changed from susceptibility to Hirschsprung disease 2, 600155; Waardenburg syndrome, type 4A, 277580; {Hirschsprung disease, susceptibility to, 2}, 600155; Waardenburg syndrome, type 4A, 277580; Hirschsprung Disease, Recessive; Waardenburg; HSCR (short-segment type); colonic aganglionosis; Shah-Waardenburg syndrome; long-segment Hirschsprung's disease; short-segment Hirschsprung's disease to Waardenburg syndrome, type 4A, OMIM:277580; {Hirschsprung disease, susceptibility to, 2}, OMIM:600155; ?ABCD syndrome, OMIM:600501; Colonic aganglionosis; Shah-Waardenburg syndrome; Long-segment Hirschsprung's disease; Short-segment Hirschsprung's disease

18 Oct 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.

4 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

3 Aug 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for EDNRB were set to susceptibility to Hirschsprung disease 2, 600155; Waardenburg syndrome, type 4A, 277580; {Hirschsprung disease, susceptibility to, 2}, 600155; Waardenburg syndrome, type 4A, 277580; Hirschsprung Disease, Recessive; Waardenburg; HSCR (short-segment type); colonic aganglionosis; Shah-Waardenburg syndrome; long-segment Hirschsprung's disease; short-segment Hirschsprung's disease

3 Aug 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for EDNRB were set to 28543993; 27370713; 16618617; 20009762; 10528251; 26923755; 25852447

3 Aug 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for EDNRB were set to susceptibility to Hirschsprung disease 2, 600155; Waardenburg syndrome, type 4A, 277580; {Hirschsprung disease, susceptibility to, 2}, 600155; Waardenburg syndrome, type 4A, 277580; Hirschsprung Disease, Recessive; Waardenburg; HSCR (short-segment type); colonic aganglionosis; Shah-Waardenburg syndrome

3 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

3 Aug 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for EDNRB were set to susceptibility to Hirschsprung disease 2, 600155; Waardenburg syndrome, type 4A, 277580; {Hirschsprung disease, susceptibility to, 2}, 600155; Waardenburg syndrome, type 4A, 277580; Hirschsprung Disease, Recessive; Waardenburg; HSCR (short-segment type); colonic aganglionosis

3 Aug 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

3 Aug 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for EDNRB were set to 28543993; 27370713; 16618617; 20009762

3 Aug 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for EDNRB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Aug 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for EDNRB were set to susceptibility to Hirschsprung disease 2, 600155; Waardenburg syndrome, type 4A, 277580; {Hirschsprung disease, susceptibility to, 2}, 600155; Waardenburg syndrome, type 4A, 277580; Hirschsprung Disease, Recessive; Waardenburg; HSCR (short-segment type)

6 Jun 2017, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

EDNRB was added to Familial Hirschsprung Diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services

6 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

EDNRB was added to Familial Hirschsprung Diseasepanel. Source: Radboud University Medical Center, Nijmegen

5 Jun 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for EDNRB were set to 28543993; 27370713; 16618617

1 Jun 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for EDNRB were set to 28543993; 27370713

1 Jun 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for EDNRB were set to 28543993

8 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

EDNRB was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC

8 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

EDNRB was created by rfoulger