GARS

glycyl-tRNA synthetase
OMIM: 600287, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red GARS in Neuromuscular disorders


Version 5.47
Signed off v.5.43 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Distal Spinal Muscular Atrophy
Tags
  • new-gene-name

Red GARS in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.11
Signed off v.3.2 on 13 Feb 2020

review Not set
Sources
  • Expert Review Red
  • Expert list
Tags
  • new-gene-name

Green GARS in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.414

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Charcot-Marie-Tooth disease, type 2D
  • Neuropathy, distal hereditary motor, type VA
Tags
  • new-gene-name

Green GARS in Inborn errors of metabolism


Version 2.8
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease, type 2D
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Neuropathy, distal hereditary motor, type VA
    Tags
    • new-gene-name

    Green GARS in Possible mitochondrial disorder - nuclear genes


    Version 1.15
    Signed off v.1.13 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Neuropathy, distal hereditary motor, type VA, 600794
    • Charcot-Marie-Tooth disease, type 2D, 601472
    Tags
    • new-gene-name

    Red GARS in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.32
    Signed off v.1.30 on 4 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Distal Spinal Muscular Atrophy
    Tags
    • new-gene-name

    Green GARS in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.368

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Neuropathy, distal hereditary motor, type V, 600794
    • Neuropathy, distal hereditary motor, type V, 600794
    • Charcot Marie Tooth disease, type 2D, 601472
    Tags
    • new-gene-name

    Green GARS in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.6
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert list
    • Expert
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Charcot-Marie-Tooth disease, type 2D
    • Neuropathy, distal hereditary motor, type VA
    Tags
    • treatable
    • new-gene-name

    Green GARS in Hereditary neuropathy NOT PMP22 copy number


    Version 1.4
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Neuropathy, distal hereditary motor, type V, 600794
    • Charcot Marie Tooth disease, type 2D, 601472
    Tags
    • new-gene-name

    Red GARS in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    • Expert Review Red
    • London North GLH
    Tags
    • new-gene-name

    Green GARS in Severe Paediatric Disorders


    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, type 2D, 601472
    • Neuropathy, distal hereditary motor, type VA, 600794
    Tags
    • new-gene-name