Genes in panel

Adult onset movement disorder

Gene: MR1

Red List (low evidence)

MR1 (major histocompatibility complex, class I-related)
EnsemblGeneIds (GRCh38): ENSG00000153029
EnsemblGeneIds (GRCh37): ENSG00000153029
OMIM: 600764, Gene2Phenotype
MR1 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:39 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

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: 23 Apr 2019, 12:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Paroxysmal/Episodic dystonia
  • Dystonia
OMIM
600764
Clinvar variants
Variants in MR1
Penetrance
None
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MR1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to MR1.

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MR1 was added gene: MR1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: MR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MR1 were set to Paroxysmal/Episodic dystonia; Dystonia