Diabetes - neonatal onset

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

3 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, 4:27 p.m.

Elisa De Franco (University of Exeter Medical School)

Green List (high evidence)

Publications

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as Ready: 25th May 2017.
Created: 25 May 2017, 10:05 a.m.
Comment on list classification: Updated rating from Red to Green: Included on the 28-gene Exeter neonatal diabetes screen. Plus personal correspondance from Elisa De-Franco (University of Exeter Medical School) who agrees that WFS1 should be included on this panel (see PMID:28468959 reporting 5 patients (2 with diabetes diagnosed under 6 months).
Created: 25 May 2017, 10:04 a.m.
Some specific dominant WFS1 mutations have been shown to cause a syndromic form of neonatal diabetes in 5 unrelated patients (PMID:28468959, De Franco et al., 2017). They had diabetes diagnosed before 12 months (in 2 patients, diabetes was diagnosed before 6 months). This syndrome has a discrete pathophysiology and differs genetically and clinically from recessive Wolfram syndrome (MIM:222300).
Created: 25 May 2017, 10:01 a.m.
Comment on mode of inheritance: Monoallelic mode of inheritance supported by PMID:28468959 (De Franco et al., 2017).
Created: 25 May 2017, 10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
syndromic neonatal diabetes

Publications

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: WFS1 were changed from Syndromic neonatal diabetes; Wolfram syndrome, 222300 to Wolfram-like syndrome, autosomal dominant, OMIM:614296

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: WFS1 were changed from Syndromic neonatal diabetes to Syndromic neonatal diabetes; Wolfram syndrome, 222300

11 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to WFS1. Rating Changed from Green List (high evidence) to Green List (high evidence)

31 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.

30 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for WFS1 were set to Syndromic neonatal diabetes

30 May 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

WFS1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Other

25 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

WFS1 was created by rfoulger