Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: WFS1
Comment on mode of inheritance: Changed from 'other' to capture these variants in tiering.Created: 3 Apr 2017, 5:06 p.m.
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: 22 Jul 2016, 12:08 p.m.
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.
Mode of inheritance for WFS1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
This gene has been classified as Green List (High Evidence).
Publications for WFS1 were set to 27217304; 27185633
Mode of inheritance for WFS1 was changed to Other - please specifiy in evaluation comments
This gene has been classified as Green List (High Evidence).
WFS1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Eligibility statement prior genetic testing
WFS1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen