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Severe Paediatric Disorders

Gene: EDNRB

Green List (high evidence)

EDNRB (endothelin receptor type B)
EnsemblGeneIds (GRCh38): ENSG00000136160
EnsemblGeneIds (GRCh37): ENSG00000136160
OMIM: 131244, Gene2Phenotype
EDNRB is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: EDNRB; Recommended initial gene rating: Green List (high evidence); Phenotypes: ABCD syndrome, 600501 (3) | Waardenburg syndrome, type 4A, 277580 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Waardenburg syndrome, type 4A, 277580
  • ABCD syndrome, 600501
OMIM
131244
Clinvar variants
Variants in EDNRB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance