1. Panels
  2. Newborns main panel
  3. WFS1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: WFS1

Red List (low evidence)
WFS1 (wolframin ER transmembrane glycoprotein)
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: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:38 a.m.
Panel Version: 0.146
PMID: 36764396 - 86 autosomal dominant cases PMID: 10521293 - 19 autosomal recessive cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
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: 10 May 2023, 9 a.m. | Last Modified: 10 May 2023, 9 a.m.
Panel Version: 0.76
Created: 10 May 2023, 9 a.m.
Last Modified: 7 Jul 2023, 9:38 a.m.
Panel version: 0.137

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 Syndrome 1 for gene: WFS1 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

14 Jul 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: WFS1 were changed from Wolfram Syndrome 1; Wolfram Syndrome to Wolfram Syndrome 1

5 Jul 2023, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to WFS1. Mode of inheritance for gene WFS1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Wolfram Syndrome 1 for gene: WFS1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 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 Syndrome for gene: WFS1 Rating Changed from No List (delete) to Red List (low evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to WFS1. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Wolfram Syndrome for gene: WFS1

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: WFS1 was added gene: WFS1 was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal