DARS

aspartyl-tRNA synthetase
OMIM: 603084, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Green DARS in White matter disorders and cerebral calcification - narrow panel


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity
    Tags
    • new-gene-name
    Green DARS in Adult onset leukodystrophy


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
    Tags
    • new-gene-name
    Green DARS in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity 615281
    Tags
    • new-gene-name
    Amber DARS in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.311

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Brain stem and spinal cord Hypomyelination
    • leg spasticity
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
    Tags
    • new-gene-name
    Green DARS in Childhood onset hereditary spastic paraplegia


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Literature
    Phenotypes
    • leg spasticity
    • Brain stem and spinal cord Hypomyelination
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
    Tags
    • new-gene-name
    Green DARS in Adult onset hereditary spastic paraplegia


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • South West GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • leg spasticity
    • Brain stem and spinal cord Hypomyelination
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
    Tags
    • new-gene-name
    Red DARS in Adult onset neurodegenerative disorder


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • London North GLH
    • NHS GMS
    • South West GLH
    • Expert list
    Phenotypes
    • Brain stem and spinal cord Hypomyelination
    • leg spasticity
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
    Tags
    • new-gene-name
    Green DARS 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
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity
    Tags
    • new-gene-name
    Green DARS in Likely inborn error of metabolism - targeted testing not possible


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    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
    • Expert Review Green
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity
    Tags
    • new-gene-name
    Red DARS in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
    Tags
    • new-gene-name
    Green DARS in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
    Tags
    • new-gene-name
    Green DARS in DDG2P


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281
    Tags
    • new-gene-name
    Green DARS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.2
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
    Tags
    • new-gene-name
    Red DARS in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.1
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity
    Tags
    • new-gene-name
    Red DARS in Childhood onset dystonia, chorea or related movement disorder


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

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


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
    Tags
    • new-gene-name