Childhood onset dystonia, chorea or related movement disorder
Gene: WFS1

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

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

I don't know

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

London North GLH
Expert Review Amber

Phenotypes

Wolfram syndrome 1, 222300

OMIM

606201

Clinvar variants

Variants in WFS1

Penetrance

None

Panels with this gene

History Filter Activity

8 Dec 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: WFS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Dec 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300

6 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: WFS1 was added gene: WFS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: WFS1 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: WFS1