MR1

major histocompatibility complex, class I-related
OMIM: 600764, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red MR1 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • Paroxysmal/Episodic dystonia
Red MR1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.9
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Warts, bacterial infections, MAIT cells deficiency
Red MR1 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Dystonia
    • Paroxysmal/Episodic dystonia
    Red MR1 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 6.1
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Paroxysmal/Episodic dystonia
    • Dystonia
    Red MR1 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 8.1
    Latest signed off version: v8.0 (6 May 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PanelApp
    • South West GLH
    Phenotypes
    • Dystonia
    • Paroxysmal/Episodic dystonia