Sudden death in young people

Gene: EDN3

Red List (low evidence)

EDN3 (endothelin 3)
EnsemblGeneIds (GRCh38): ENSG00000124205
EnsemblGeneIds (GRCh37): ENSG00000124205
OMIM: 131242, Gene2Phenotype
EDN3 is in 5 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: Poor evidence that EDN3 causes central hypoventilation syndrome at the current time.
Created: 19 Dec 2016, 4:16 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Central hypoventilation syndrome, congenital, 209880
  • CCHS
OMIM
131242
Clinvar variants
Variants in EDN3
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 1

panel promoted to version 1

Ellen Thomas (Genomics England Curator)

This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

EDN3 was added to Sudden death in young peoplepanel. Sources: Other

1 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

EDN3 was created by rfoulger