AARS2

alanyl-tRNA synthetase 2, mitochondrial
OMIM: 612035, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green AARS2 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukoencephalopathy, progressive, with ovarian failure 615889

No list AARS2 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • early infantile cardiac failure
  • infantile mitochondrial cardiomyopathy
  • Combined Oxidative Phosphorylation Deficiency
  • Combined oxidative phosphorylation deficiency 8, 614096
  • fatal infantile hypertrophic mitochondrial cardiomyopathy

Green AARS2 in White matter disorders and cerebral calcification - narrow panel


Version 1.14
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with ovarian failure
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy

    Green AARS2 in White matter disorders - adult onset


    Version 1.4
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Leukoencephalopathy, progressive, with ovarian failure, 615889

    Green AARS2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.82

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy with ovarian failure
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy

    Green AARS2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.418

    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)
    • Combined oxidative phosphorylation deficiency 8, 614096
    • infantile mitochondrial cardiomyopathy

    Green AARS2 in Inborn errors of metabolism


    Version 2.15
    Signed off v.2.3 on 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
    • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Combined oxidative phosphorylation deficiency 8, 614096
    • infantile mitochondrial cardiomyopathy

    Green AARS2 in Possible mitochondrial disorder - nuclear genes


    Version 1.15
    Signed off v.1.13 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Combined oxidative phosphorylation deficiency 8, 614096
    • Leukoencephalopathy, progressive, with ovarian failure, 615889

    Red AARS2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.143
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Green AARS2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.8
    Signed off v.2.4 on 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)
    • Combined oxidative phosphorylation deficiency 8, 614096
    • infantile mitochondrial cardiomyopathy

    Green AARS2 in Cardiomyopathies - including childhood onset


    Version 1.5
    Signed off v.1.4 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    Phenotypes
    • Combined oxidative phosphorylation deficiency 8, 614096
    • infantile mitochondrial cardiomyopathy
    • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)

    Red AARS2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.8
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green AARS2 in Severe Paediatric Disorders


    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy, progressive, with ovarian failure, 615889
    • Combined oxidative phosphorylation deficiency 8, 614096