KARS

lysyl-tRNA synthetase
OMIM: 601421, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red KARS in COVID-19 research


Level 2: Viral research
Version 1.130

review Not set
Sources
  • Literature
Tags
  • new-gene-name

Green KARS in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
  • Deafness, autosomal recessive 89, 613916
Tags
  • new-gene-name

Green KARS in Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Deafness, autosomal recessive 89, 613916
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
    Tags
    • new-gene-name

    Green KARS in Possible mitochondrial disorder - nuclear genes


    Version 1.94
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Deafness, autosomal recessive 89 613916
    • ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
    Tags
    • new-gene-name

    Red KARS in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
    • DEAFNESS, AUTOSOMAL RECESSIVE 89
    Tags
    • new-gene-name

    Green KARS in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • DEAFNESS, AUTOSOMAL RECESSIVE 89 613916
    • CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641
    Tags
    • new-gene-name

    Red KARS in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.454

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Charcot-Marie-Tooth, Intermediate (Dominant).
    • Charcot-Marie-Tooth, Intermediate (Dominant)
    • Deafness, autosomal recessive 89, 613916
    • Deafness, autosomal recessive 89, 613916
    • Charcot Marie Tooth disease, recessive intermediate, B, 613641
    • Deafness, autosomal recessive 89, 613916
    Tags
    • new-gene-name

    Green KARS in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
    • Deafness, autosomal recessive 89, 613916
    Tags
    • new-gene-name

    Green KARS in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Charcot-Marie-Tooth disease, recessive intermediate, B - 613641
    • Deafness, autosomal recessive 89 - 613916
    Tags
    • new-gene-name

    Green KARS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
    • Deafness, autosomal recessive 89, 613916
    Tags
    • new-gene-name

    Green KARS in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.117
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
    • Deafness, autosomal recessive 89, 613916
    Tags
    • new-gene-name

    Red KARS in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Red
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • NHS GMS
    • South West GLH
    Phenotypes
    • Deafness, autosomal recessive 89, 613916
    • Charcot-Marie-Tooth, Intermediate (Dominant)
    • Charcot-Marie-Tooth, Intermediate (Dominant).
    • Charcot Marie Tooth disease, recessive intermediate, B, 613641

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


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    • Expert Review Red
    • London North GLH

    Green KARS in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
    • Deafness, autosomal recessive 89, 613916
    Tags
    • new-gene-name