DARS2

aspartyl-tRNA synthetase 2, mitochondrial
OMIM: 610956, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green DARS2 in Mendeliome


Version 1.3512

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

Amber DARS2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

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 0.1085

    Component of the following Super Panels:

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

    Green DARS2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    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 1.410

    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 - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • 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 - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • 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 Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.151

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105

    Green DARS2 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings

    Green DARS2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    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 1.465

    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 2.14

    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)