Monogenic Diabetes
Gene: WFS1EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 17 panels
1 review
Hali Van Niel (University of Melbourne)
Established gene disease association with wolfram syndrome, disease characterised by juvenile diabetesCreated: 21 May 2024, 6:06 a.m. | Last Modified: 21 May 2024, 6:06 a.m.
Panel Version: 0.125
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 1 MONDO:0009101; type 1 diabetes mellitus MONDO:0005147
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Wolfram-like syndrome, autosomal dominant, 614296
- Wolfram syndrome, 222300
- Deafness, autosomal dominant 6/14/38, 600965
- ?Cataract 41,116400
- {Diabetes mellitus, noninsulin-dependent, association with}, 125853
- Deafness,autosomal dominant 6/14/38, 600965
- {Diabetes mellitus, noninsulin-dependent,association with}
- diabetes insipidus or optic atrophy
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WFS1 was added gene: WFS1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 27185633; 27217304 Phenotypes for gene: WFS1 were set to Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome, 222300; Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41,116400; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; Deafness,autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; diabetes insipidus or optic atrophy