Pigmentary skin disorders

Gene: EDN3

Green List (high evidence)

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
WAARDENBURG SYNDROME, TYPE 4B; WS4B

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. EDN3 is Green on the 'Hearing loss' panel, with a review from Maria Bitner-Glindzicz who records that 'Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green list'.
Created: 7 Feb 2019, 2:25 p.m.
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: EDN3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • WAARDENBURG SYNDROME, TYPE 4B
  • WS4B
  • Waardenburg syndrome
OMIM
131242
Clinvar variants
Variants in EDN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes WAARDENBURG SYNDROME, TYPE 4B; WS4B for gene: EDN3 Publications for gene EDN3 were changed from to 8630503; 8630502

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to EDN3.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: EDN3 was added gene: EDN3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDN3 were set to Waardenburg syndrome