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Research panel - Severe Paediatric Disorders

Gene: WFS1

Green List (high evidence)
WFS1 (wolframin ER transmembrane glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 24 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: WFS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Cataract 41, 116400 (3) | Deafness, autosomal dominant 6/14/38, 600965 (3) | Wolfram syndrome 1, 222300 (3) | Wolfram-like syndrome, autosomal dominant, 614296 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene WFS1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41, 116400; Wolfram syndrome 1, 222300; Wolfram-like syndrome, autosomal dominant, 614296 for gene: WFS1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41, 116400; Wolfram syndrome 1, 222300; Wolfram-like syndrome, autosomal dominant, 614296 for gene: WFS1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41, 116400; Wolfram syndrome 1, 222300; Wolfram-like syndrome, autosomal dominant, 614296 for gene: WFS1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Cataract 41, 116400; Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome 1, 222300; Deafness, autosomal dominant 6/14/38, 600965 for gene: WFS1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene WFS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41, 116400; Wolfram syndrome 1, 222300; Wolfram-like syndrome, autosomal dominant, 614296 for gene: WFS1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to WFS1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to WFS1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: WFS1 was added gene: WFS1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: WFS1 was set to