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  2. Undiagnosed neurocutaneous disorders
  3. EDNRB
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Undiagnosed neurocutaneous disorders

Gene: EDNRB

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

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?{Hirschsprung disease, susceptibility to}, 600155
  • ABCD syndrome, 600501
  • Waardenburg syndrome, type 4A, 277580
  • Waardenburg Syndrome
OMIM
131244
Clinvar variants
Variants in EDNRB
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Dec 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

EDNRB was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene EDNRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 Dec 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EDNRB was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen

10 Dec 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EDNRB was created by ellenmcdonagh