This Panel is marked as Internal
Newborns additional phenotypes panel 1
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
1 review
Mafalda Gomes (Genomics England Curator)
The mechanisms of pathogenicity are loss-of-function (LOF) for autosomal recessive MOI and dominant-negative (DN) for autosomal dominant MOI.Created: 7 Jul 2023, 9:38 a.m. | Last Modified: 7 Jul 2023, 9:38 a.m.
Panel Version: 0.31
PMID: 36764396 - 86 autosomal dominant cases PMID: 10521293 - 19 autosomal recessive casesCreated: 7 Jul 2023, 9:38 a.m. | Last Modified: 7 Jul 2023, 9:38 a.m.
Panel Version: 0.31
ClinGen separates AR Wolfram syndrome and AD Wolfram-like syndrome, should we? Looks like both LOF and DN for AR and AD, so not sure? -> Discussed with David, leave as is for now (both together and semidominant inheritance).Created: 7 Jul 2023, 9:38 a.m. | Last Modified: 7 Jul 2023, 9:38 a.m.
Panel Version: 0.31
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Wolfram-like Syndrome
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Monogenic nephrogenic diabetes insipidus
- Monogenic diabetes
- Adult onset neurodegenerative disorder
- Structural eye disease
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Familial diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Neonatal diabetes
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Bilateral congenital or childhood onset cataracts
- Multi-organ autoimmune diabetes
- Monogenic hearing loss
- Mitochondrial disorders
- Hereditary ataxia
- DDG2P
- Glaucoma (developmental)
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Familial Meniere Disease
History Filter Activity
14 Sep 2023, Gel status: 1
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Red was added to WFS1. Added phenotypes Wolfram-like Syndrome for gene: WFS1 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
5 Jul 2023, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)gene: WFS1 was added gene: WFS1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: WFS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WFS1 were set to Wolfram-like Syndrome Mode of pathogenicity for gene: WFS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments