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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

2 reviews

Arina Puzriakova (Genomics England Curator)

ID reported in some cases as part of a broader phenotype. Inclusion on this panel is therefore unlikely to be of benefit as it is expected that cases will be detected in view of other more predominant features of the disease presentation (e.g. diabetes). Therefore, maintaining Red rating on this panel.
Created: 11 Nov 2020, 4:42 p.m. | Last Modified: 11 Nov 2020, 4:42 p.m.
Panel Version: 3.517

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

11 Nov 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300; Wolfram-like syndrome, autosomal dominant, 614296

11 Nov 2020, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: WFS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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