Maturity-onset Diabetes of the Young
Gene: WFS1EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 17 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Evidence is inconclusive whether WSF1 is associated with MODY
PMID: 30014265 - rare missense variant (c.1672C>T, p.R558C) associated with a mild form of Wolfram syndrome homozygous and risk of type 2 diabetes heterozygous (equivalent to a risk allele - OR 1.81, p = 0.004)
PMID: 36208030 - a study using the UK Biobank comparing individuals with and without diabetes found LoF variants in WFS1 were ‘Inconclusive’ with being high penetrant for diabetes (met one of two statistical criteria - met enrichment criteria & failed comparison to maximum credible allele frequency)Created: 29 Feb 2024, 3:12 a.m. | Last Modified: 29 Feb 2024, 3:12 a.m.
Panel Version: 1.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
maturity-onset diabetes of the young MONDO:0018911
Publications
Hali Van Niel (University of Melbourne)
1 patient with clinically established MODY with WFS1 variant
Sources: OtherCreated: 27 Feb 2024, 4:39 a.m.
Mode of inheritance
Unknown
Phenotypes
maturity-onset diabetes of the young MONDO:0018911
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- maturity-onset diabetes of the young MONDO:0018911
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Stroke
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Monogenic Diabetes
- Optic Atrophy
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Maturity-onset Diabetes of the Young
- Regression
- Deafness_Isolated
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Syndromic Retinopathy
- Ataxia - paediatric
History Filter Activity
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: WFS1 were set to 27185633
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: wfs1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: wfs1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hali Van Niel (University of Melbourne)gene: WFS1 was added gene: WFS1 was added to Maturity-onset Diabetes of the Young. Sources: Other Mode of inheritance for gene: WFS1 was set to Unknown Publications for gene: WFS1 were set to 27185633 Phenotypes for gene: WFS1 were set to maturity-onset diabetes of the young MONDO:0018911 Review for gene: WFS1 was set to RED