DARS1

aspartyl-tRNA synthetase 1
OMIM: 603084, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DARS1 in Mendeliome


Version 2.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Tags
  • new gene name

Green DARS1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Tags
  • new gene name

Green DARS1 in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
    Tags
    • new gene name

    Green DARS1 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    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
    • Expert list
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
    Tags
    • new gene name

    Green DARS1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
    Tags
    • new gene name

    Green DARS1 in Fetal anomalies


    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
    Tags
    • new gene name

    Green DARS1 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)