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Intellectual disability

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

Zornitza Stark (Australian Genomics)

I don't know

Classically characterised by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness, although a variety of neurological features have been described including ataxia, dementia, intellectual disability and psychiatric issues.
Created: 3 Mar 2020, 11:15 p.m. | Last Modified: 3 Mar 2020, 11:15 p.m.
Panel Version: 3.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Wolfram syndrome 1, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM# 614296

History Filter Activity

29 Sep 2018, 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 Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: WFS1 was set to