DARS2

aspartyl-tRNA synthetase 2, mitochondrial
OMIM: 610956, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green DARS2 in Mendeliome


Version 1.4541

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105
  • Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485

Amber DARS2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.384

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105

    Green DARS2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 1.16

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105

    Green DARS2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.607

    0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DARS2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.699

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105

    Green DARS2 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.192

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
    • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105

    Green DARS2 in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.392

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105

    Green DARS2 in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485

    Green DARS2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)

    Red DARS2 in Fetal anomalies


    Version 1.542

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105

    Green DARS2 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)