Neonatal diabetes
Gene: WFS1EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 24 panels
3 reviews
Ivone Leong (Genomics England Curator)
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.
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- Wolfram-like syndrome, autosomal dominant, OMIM:614296
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- DDG2P
- Monogenic nephrogenic diabetes insipidus
- Optic neuropathy
- Familial diabetes
- Adult onset neurodegenerative disorder
- Neonatal diabetes
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Structural eye disease
- Monogenic hearing loss
- Hereditary ataxia
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: WFS1 were changed from Syndromic neonatal diabetes to Syndromic neonatal diabetes; Wolfram syndrome, 222300
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)
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.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for WFS1 were set to Syndromic neonatal diabetes
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for WFS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Rebecca Foulger (Genomics England curator)WFS1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)WFS1 was created by rfoulger