Pigmentary skin disordersGene: EDN3
Comment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" as patients with biallelic variants have a more severe phenotype. This MOI change does not affect tiering.
Created: 3 Nov 2021, 3:53 p.m. | Last Modified: 3 Nov 2021, 3:53 p.m.
Panel Version: 1.17
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.
Mode of inheritance for gene: EDN3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes WAARDENBURG SYNDROME, TYPE 4B; WS4B for gene: EDN3 Publications for gene EDN3 were changed from to 8630503; 8630502
Source London North GLH was added to EDN3.
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