Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: EDNRB

EDNRB (endothelin receptor type B)
EnsemblGeneIds (GRCh38): ENSG00000136160
EnsemblGeneIds (GRCh37): ENSG00000136160
OMIM: 131244, Gene2Phenotype
EDNRB is in 9 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

No mention of CSS in OMIM. On Blueprint genetics CSS panel. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Hirschprung disease; ABCD syndrome; Waardenburg syndrome

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: EDNRB; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Sources

NHS GMS

Phenotypes

Waardenburg syndrome
ABCD syndrome
Hirschprung disease

OMIM

131244

Clinvar variants

Variants in EDNRB

Penetrance

None

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Waardenburg syndrome; ABCD syndrome; Hirschprung disease for gene: EDNRB

5 Mar 2019, 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 Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: EDNRB was set to

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: EDNRB