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  3. MR1
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Early onset dystonia

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 5 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • Paroxysmal/Episodic dystonia
OMIM
600764
Clinvar variants
Variants in MR1
Penetrance
Complete
Panels with this gene

History Filter Activity

17 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

16 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MR1 was added to Early onset dystoniapanel. Sources: Expert

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MR1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory