Monogenic diabetes

Gene: WFS1

Green List (high evidence)

WFS1 (wolframin ER transmembrane glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 24 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

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.

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • diabetes insipidus or optic atrophy
  • Wolfram-like syndrome, autosomal dominant, 614296
  • Deafness, autosomal dominant 6/14/38, 600965
  • {Diabetes mellitus, noninsulin-dependent,association with}
  • Deafness,autosomal dominant 6/14/38, 600965
  • Wolfram syndrome, 222300
  • {Diabetes mellitus, noninsulin-dependent, association with}, 125853
  • ?Cataract 41,116400
OMIM
606201
Clinvar variants
Variants in WFS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to WFS1.

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes diabetes insipidus or optic atrophy; Wolfram-like syndrome, autosomal dominant, 614296; Deafness, autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness,autosomal dominant 6/14/38, 600965; Wolfram syndrome, 222300; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; ?Cataract 41,116400 for gene: WFS1

18 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: WFS1 was added gene: WFS1 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 27217304; 27185633 Phenotypes for gene: WFS1 were set to Wolfram syndrome, 222300