RARS2

arginyl-tRNA synthetase 2, mitochondrial
OMIM: 611524, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green RARS2 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.78

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 6, MIM# 611523

Green RARS2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 6 MIM#611523

Green RARS2 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 6, MIM# 611523
  • early onset cerebellar ataxia

Green RARS2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 6, MIM# 611523

Green RARS2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pontocerebellar hypoplasia, type 6 MIM#611523

    Green RARS2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green RARS2 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RARS2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RARS2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Pontocerebellar hypoplasia, type 6, MIM# 611523

    Red RARS2 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia, type 6, 611523
    • early onset cerebellar ataxia

    Green RARS2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia, type 6, 611523 (3)

    Green RARS2 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pontocerebellar hypoplasia, type 6, MIM# 611523

    Green RARS2 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia, type 6, MIM#611523

    Green RARS2 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia, type 6, 611523 (3)