AARS2

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

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green AARS2 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.67

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 1.15

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


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with ovarian failure
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    Green AARS2 in Adult onset leukodystrophy


    Version 3.24
    Latest signed off version: v3.0 (22 Mar 2023)

    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 1.180

    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 1.617

    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 Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Combined oxidative phosphorylation deficiency 8, 614096
    • Leukoencephalopathy, progressive, with ovarian failure, 615889
    Green AARS2 in Fetal anomalies


    Version 3.154
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889
    • Combined oxidative phosphorylation deficiency 8, OMIM:614096
    • fetal hydrops
    • cardiomyopathy
    • polyhydramnios
    • pulmonary effusion
    Red AARS2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • 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 Paediatric or syndromic cardiomyopathy


    Version 3.44
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green AARS2 in Severe Paediatric Disorders


    Version 1.184

    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