Childhood onset dystonia, chorea or related movement disorder
Gene: MR1

MR1 (major histocompatibility complex, class I-related)
EnsemblGeneIds (GRCh38): ENSG00000153029
EnsemblGeneIds (GRCh37): ENSG00000153029
OMIM: 600764, Gene2Phenotype
MR1 is in 5 panels

1 review

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Likely has been confused with PNKD (which has been referred to as MR1/MR-1). This gene has no associations with dystonia.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.

Panel Version: 0.10

Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

PanelApp
South West GLH

Phenotypes

Dystonia
Paroxysmal/Episodic dystonia

OMIM

600764

Clinvar variants

Variants in MR1

Penetrance

None

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to MR1. Mode of inheritance for gene MR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dystonia; Paroxysmal/Episodic dystonia for gene: MR1

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MR1 was added gene: MR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: MR1 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: MR1