1. Genes and Genomic Entities
  2. YARS2

YARS2

tyrosyl-tRNA synthetase 2
OMIM: 610957, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red YARS2 in Other rare neuromuscular disorders


Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Green YARS2 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2 613561
Red YARS2 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Red YARS2 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561
    Green YARS2 in Rare anaemia


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
    • 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2
    Green YARS2 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)
    • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
    Green YARS2 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
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
    Green YARS2 in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
    Green YARS2 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, OMIM:613561
    Green YARS2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    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)
    • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
    Red YARS2 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green YARS2 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561