Familial pulmonary fibrosis

Gene: EDN3

Red List (low evidence)

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

2 reviews

Philip Molyneaux (Imperial College)

Red List (low evidence)

Central hypoventilation syndrome again, not Fibrosis
Created: 26 Apr 2017, 9:55 a.m.

Alice Gardham (Genomics England)

Comment when marking as ready: congenital hypoventilation rather than lung fibrosis -incorrect phenotype
Created: 8 Feb 2017, 6:55 p.m.


  • Expert Review Red
  • Emory Genetics Laboratory
  • Pulmonary Disease
Clinvar variants
Variants in EDN3
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

8 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EDN3 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory

29 Oct 2015, Gel status: 0


Ellen McDonagh (Genomics England Curator)

EDN3 was created by ellenmcdonagh