Dystonia - childhood onset

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

0 reviews

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

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: MR1 was added gene: MR1 was added to Dystonia - childhood onset. 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