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Bilateral congenital or childhood onset cataracts

Gene: WFS1

Green List (high evidence)

WFS1 (wolframin ER transmembrane glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 25 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants in this gene. There is enough evidence for this gene to be green.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:45 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: WFS1; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]
Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31


History Filter Activity

28 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: WFS1 was added gene: WFS1 was added to Cataracts. Sources: Expert Review Green,Expert list Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 27217304; 21067485; 28468959; 23531866; 21623599; 23373429; 28271591; 16151413; 27468121 Phenotypes for gene: WFS1 were set to ?Cataract 41, 116400