Familial diabetesGene: WFS1
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: WFS1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Wolfram syndrome
Created: 11 Jan 2019, 10:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Biallelic WFS1 variants are most commonly associated with Wolfram syndrome. However, heterozygous dominant negative WFS1 variants are associated with a rare form of Wolfram syndrome with subtle phenotypic differences. Comment from Sian Ellard (paper in preparation)
Created: 5 Jul 2016, 7:46 a.m.
Comment on mode of inheritance: Changed from 'other' to both to capture these variants in tiering.
Created: 3 Apr 2017, 5:05 p.m.
Comment on list classification: Promoted from red to green due to expert review and further supporting evidence on OMIM.
Created: 28 Jun 2016, 3:11 p.m.
Mode of inheritance for WFS1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for WFS1 was changed to Other - please specifiy in evaluation comments
Phenotypes for WFS1 were set to Wolfram syndrome, 222300
Publications for WFS1 were set to 27217304; 27185633
Mode of inheritance for WFS1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
WFS1 was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen