KARS

lysyl-tRNA synthetase
OMIM: 601421, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green KARS in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with or without deafness (LEPID), MIM#619147
  • Deafness, autosomal recessive 89, MIM# 613916
  • Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196

Green KARS in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leukoencephalopathy, progressive, infantile-onset, with or without deafness MIM#619147

    Green KARS in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green KARS in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.213

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
    • Deafness, autosomal recessive 89, MIM# 613916
    Tags
    • new gene name

    Green KARS in Predominantly Antibody Deficiency


    Level 2: Immunological disorders
    Version 1.0

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893

    Green KARS in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy with or without deafness (LEPID), MIM#619147
    • Combined mitochondrial oxidative phosphorylation deficiency
    • epilepsy
    • intellectual disability
    • microcephaly

    Green KARS in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy with or without deafness (LEPID), MIM#619147

    Amber KARS in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641
    • MONDO:0013338)

    Green KARS in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.67

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Deafness Flagship
    Phenotypes
    • Deafness, autosomal recessive 89, MIM# 613916

    Green KARS in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • deafness with progressive leukodystrophy

    Red KARS in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Leukoencephalopathy with or without deafness (LEPID), MIM#619147

    Red KARS in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Leukoencephalopathy with or without deafness (LEPID), MIM#619147
    • Deafness, autosomal recessive 89, MIM# 613916
    • Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196