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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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Comment on publications: PMID:39767643 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 24 Mar 2025, 8:28 p.m. | Last Modified: 24 Mar 2025, 8:28 p.m.
Panel Version: 8.183
PMID:39767643 reported the identification of an ultra-rare, mono-allelic missense variant in the WFS1 gene (p. Asp711Asn) in a nine-year-old girl that showed phenotypic manifestations of intellectual impairment, microcephaly, and epilepsy. There was a positive family history in previous generations for cognitive impairment.

Although there are multiple phenotypes available for this gene in OMIM, mental retardation/ cognitive impairment has been recorded as a clinical manifestation seen in some patients with the autosomal recessive Wolfram syndrome 1 (MIM #222300). However, ID has not been associated with any autosomal dominant syndromes. In addition, ID forms part of a broader phenotype.

Hence, this gene can only be rated red for both monoallelic and biallelic disease associations in this panel.
Created: 24 Mar 2025, 8:27 p.m. | Last Modified: 24 Mar 2025, 8:53 p.m.
Panel Version: 8.183

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Created: 24 Mar 2025, 8:27 p.m.
Last Modified: 24 Mar 2025, 8:53 p.m.
Panel version: 8.183

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
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

Created: 3 Mar 2020, 11:15 p.m.
Last Modified: 3 Mar 2020, 11:15 p.m.
Panel version: 3.3

History Filter Activity

24 Mar 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: WFS1 were set to

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