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DDG2P

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for EDNRB-related Waardenburg syndrome with Hirschsprung are definitive, biallelic_autosomal and loss of function (PMIDs: 11773966, 11891690, 16237557, 21373256, 21715336, 23360229, 25852447, 28502583, 30394532, 40702859, 7778600, 8001158). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03082.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.
Created: 9 Oct 2023, 5:51 p.m. | Last Modified: 9 Oct 2023, 5:52 p.m.
Panel Version: 3.71
The DDG2P confidence category for the disease ABCD SYNDROME, OMIM:600501 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:7778600).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ABCD SYNDROME, OMIM:600501; MONDO:0010192; OMIM:277580.0; EDNRB-related Waardenburg syndrome with Hirschsprung

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 9 Oct 2023, 5:52 p.m.
Panel version: 6.17

Eleanor Williams (Genomics England Curator)

Leaving the GMS review tag on this gene as a flag. This panel will shortly be updated using the Developmental Disorders panel from Gene2Phenotype, but currently on that website the gene is still displayed as having a monoallelic mode of inheritance for ABCD SYNDROME. The reason for this needs further investigation.

This gene is also on the Hearing loss panel (126) with a mode of inheritance of both mono and bi-allelic. The Hearing loss panel will be added to the Paediatric disorders super panel at a future point and so both modes of inheritance will be covered then.
Created: 3 Aug 2022, 4:08 p.m. | Last Modified: 3 Aug 2022, 4:08 p.m.
Panel Version: 2.76
Created: 3 Aug 2022, 4:08 p.m.
Last Modified: 3 Aug 2022, 4:08 p.m.
Panel version: 2.76

Ivone Leong (Genomics England Curator)

MOI should be changed from "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" to "BIALLELIC, autosomal or psuedoautosomal". PMID:7778600 and 11891690 describes homozygous variants in affected patients.
Created: 3 Nov 2021, 4:41 p.m. | Last Modified: 3 Nov 2021, 4:41 p.m.
Panel Version: 2.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 3 Nov 2021, 4:41 p.m.
Last Modified: 3 Nov 2021, 4:41 p.m.
Panel version: 2.50

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene EDNRB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

9 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_21_MOI was removed from gene: EDNRB.

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: EDNRB were changed from ABCD SYNDROME, OMIM:600501 to ABCD SYNDROME, OMIM:600501

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: EDNRB were changed from ABCD SYNDROME, OMIM:600501 to ABCD SYNDROME, OMIM:600501

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: EDNRB were changed from ABCD SYNDROME 600501 to ABCD SYNDROME, OMIM:600501

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: EDNRB were updated from 7778600; 11891690 to 7778600; 11891690

3 Nov 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_MOI tag was added to gene: EDNRB.

3 Nov 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: EDNRB were set to 7778600

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: EDNRB was added gene: EDNRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EDNRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EDNRB were set to 7778600 Phenotypes for gene: EDNRB were set to ABCD SYNDROME 600501