LARS2

leucyl-tRNA synthetase 2, mitochondrial
OMIM: 604544, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green LARS2 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021

Green LARS2 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.44

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Perrault syndrome 4, OMIM:615300

Amber LARS2 in Ataxia and cerebellar anomalies - narrow panel


Version 2.222
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 Amber
    • Expert list
    Phenotypes
    • Perrault syndrome 4, OMIM:615300
    Tags
    • for-review

    Amber LARS2 in White matter disorders - adult onset


    Version 1.25
    Latest signed off version: v1.6 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Perrault syndrome 4, OMIM:615300
    • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
    • Leukodystrophy
    Tags
    • for-review

    Amber LARS2 in Rare anaemia


    Version 1.24
    Latest signed off version: v1.2 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Wessex and West Midlands GLH
    Phenotypes
    • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
    Tags
    • Q2_21_rating

    Green LARS2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.469

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Perrault syndrome 4, OMIM:615300
    • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
    • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis

    Green LARS2 in Inborn errors of metabolism


    Version 2.154
    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
    • Perrault syndrome 4, OMIM:615300
    • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
    • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis

    Green LARS2 in Possible mitochondrial disorder - nuclear genes


    Version 1.49
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Perrault syndrome 4, OMIM:615300
    • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
    • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis

    Amber LARS2 in Fetal anomalies


    Version 1.691
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
    Tags
    • Q2_21_rating

    Amber LARS2 in DDG2P


    Version 2.39
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • PERRAULT SYNDROME

    Green LARS2 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.179
    Latest signed off version: v2.5 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Perrault syndrome 4, OMIM:615300

    Amber LARS2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1201
    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 Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Perrault syndrome 4, OMIM:615300
    • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
    • Leukodystrophy

    Green LARS2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.47
    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
    • Perrault syndrome 4, OMIM:615300
    • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
    • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis

    Red LARS2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.137
    Latest signed off version: v1.58 (6 Oct 2020)

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

    Green LARS2 in Severe Paediatric Disorders


    Version 1.81

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Perrault syndrome 4, OMIM:615300
    • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021