Monogenic nephrogenic diabetes insipidus
Gene: WFS1
WFS1 (wolframin ER transmembrane glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 24 panels
2 reviews
emma baple (Genomics England Curator)
Phenotypes
Wolfram syndrome, central/neurogenic diabetes insipidus only
Olivia Niblock (Genomics England Curator)
Diabetes Insipidus is suggested as a characteristic symptom of Wolfram Syndrome-1, however we are unsure as to it's relevance to Monogenic Nephrogenic Diabetes Insipidus.Created: 13 Jun 2016, 1:40 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Wolfram syndrome-1
- Wolfram syndrome, central/neurogenic diabetes insipidus only
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- Complete
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Monogenic nephrogenic diabetes insipidus
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Neurodegenerative disorders, adult onset
- Neonatal diabetes
- Possible mitochondrial disorder, nuclear genes
- Optic neuropathy
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Familial diabetes
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Multi-organ autoimmune diabetes
- DDG2P
- Hereditary ataxia, adult onset
- Glaucoma (developmental)
- Retinal disorders
- Mitochondrial disorders
- Likely inborn error of metabolism
- Familial Meniere Disease
History Filter Activity
10 May 2017, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for WFS1 were set to Wolfram syndrome-1;Wolfram syndrome, central/neurogenic diabetes insipidus only
9 May 2017, Gel status: 1
panel promoted to version 1
emma baple (Genomics England Curator)Ready for use in tiering
9 May 2017, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 Jun 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)WFS1 was created by oniblock
13 Jun 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)WFS1 was added to monogenic nephrogenic diabetes insipiduspanel. Sources: UKGTN