LARS

leucyl-tRNA synthetase
OMIM: 151350, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber LARS in Cholestasis


Level 2: Gastroenterological disorders
Version 0.240

Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Infantile liver failure syndrome 1, MIM# 615438
    Tags
    • new gene name

    Green LARS in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Infantile liver failure syndrome 1, MIM# 615438
    • Seizures
    • Intellectual disability
    • Encephalopathy
    Tags
    • new gene name

    Green LARS in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Infantile liver failure syndrome 1, MIM# 615438
    • Seizures
    • Intellectual disability
    • Encephalopathy
    Tags
    • new gene name

    Green LARS in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Infantile liver failure syndrome 1, MIM# 615438
    • Seizures
    • Intellectual disability
    • Encephalopathy
    Tags
    • new gene name

    Green LARS in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Infantile liver failure syndrome 1, MIM# 615438
    Tags
    • new gene name

    Red LARS in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Infantile liver failure syndrome

    Green LARS in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Infantile liver failure syndrome 1, MIM# 615438

    Green LARS in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Infantile liver failure syndrome 1 MIM#615438
    • disorder of leucine metabolism

    Green LARS in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Infantile liver failure syndrome 1, MIM# 615438

    Red LARS in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Infantile liver failure syndrome

    Green LARS in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Infantile liver failure syndrome 1, MIM# 615438