GARS

glycyl-tRNA synthetase
OMIM: 600287, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green GARS in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinal muscular atrophy, infantile, James type, MIM# 619042
  • Charcot-Marie-Tooth disease, type 2D, MIM# 601472
  • Neuronopathy, distal hereditary motor, type VA, MIM# 600794
  • Multi-system mitochondrial disorder
Tags
  • new gene name

Green GARS in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Spinal muscular atrophy, infantile, James type, MIM# 619042
    • Charcot-Marie-Tooth disease, type 2D, MIM# 601472
    • Neuronopathy, distal hereditary motor, type VA, MIM# 600794
    • Multi-system mitochondrial disorder
    Tags
    • new gene name

    Green GARS in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • HMSN, dHMN/dSMA
    • Spinal muscular atrophy, infantile, James type, MIM# 619042
    • Neuropathy, distal hereditary motor, type V, 600794
    • Charcot Marie Tooth disease, type 2D, 601472
    Tags
    • new gene name