MARS2

methionyl-tRNA synthetase 2, mitochondrial
OMIM: 609728, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green MARS2 in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Spastic ataxia 3, autosomal recessive

    Green MARS2 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.303

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic ataxia 3, autosomal recessive, OMIM:611390
    Tags
    • cnv
    • gene-duplication

    Amber MARS2 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.295

    review Not set
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic ataxia 3, autosomal recessive
    Tags
    • cnv
    • gene-duplication

    Amber MARS2 in Hereditary spastic paraplegia - childhood onset


    Version 2.145
    Latest signed off version: v2.18 (8 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic ataxia 3, autosomal recessive, 611390

    Amber MARS2 in Hereditary spastic paraplegia - adult onset


    Version 1.102
    Latest signed off version: v1.27 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic ataxia 3, autosomal recessive, 611390
    • Spastic ataxia 3, autosomal recessive

    Amber MARS2 in Neurodegenerative disorders - adult onset


    Version 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic ataxia 3, autosomal recessive, OMIM:611390
    Tags
    • cnv
    • gene-duplication

    Green MARS2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.542

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Spastic Ataxia 13, autosomal recessive, 611390
    • ?Combined oxidative phosphorylation deficiency 25
    Tags
    • missense

    Green MARS2 in Inborn errors of metabolism


    Version 2.263
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Spastic Ataxia 13, autosomal recessive, 611390
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • ?Combined oxidative phosphorylation deficiency 25

    Green MARS2 in Possible mitochondrial disorder - nuclear genes


    Version 1.94
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Spastic ataxia 3, autosomal recessive, 611390
    • ?Combined oxidative phosphorylation deficiency 25, 616430

    Red MARS2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 25 (616430) (global developmental delay)

    Green MARS2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.117
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Spastic Ataxia 13, autosomal recessive, 611390
    • ?Combined oxidative phosphorylation deficiency 25
    Tags
    • Q2_22_rating
    • Q2_22_expert_review

    Green MARS2 in Hereditary ataxia - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Spastic ataxia 3, autosomal recessive
    • Autosomal recessive spastic ataxia 3, 611390
    Tags
    • cnv
    • gene-duplication

    Green MARS2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Spastic ataxia 3, autosomal recessive, 611390

    Green MARS2 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 25, 616430
    • Spastic ataxia 3, autosomal recessive, 611390