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  2. Undiagnosed neurocutaneous disorders
  3. EDN3
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Undiagnosed neurocutaneous disorders

Gene: EDN3

Amber List (moderate evidence)
EDN3 (endothelin 3)
EnsemblGeneIds (GRCh38): ENSG00000124205
EnsemblGeneIds (GRCh37): ENSG00000124205
OMIM: 131242, Gene2Phenotype
EDN3 is in 7 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
  • Waardenburg syndrome, type 4B, 613265
  • Central hypoventilation syndrome, congenital, 209880
  • {Hirschsprung disease, susceptibility to}, 613712
  • Waardenburg Syndrome
OMIM
131242
Clinvar variants
Variants in EDN3
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)

EDN3 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene EDN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 Dec 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EDN3 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen

10 Dec 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EDN3 was created by ellenmcdonagh