LARS1

leucyl-tRNA synthetase 1
OMIM: 151350, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber LARS1 in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

Component of the following Super Panels:

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

    Green LARS1 in Mendeliome


    Version 2.10

    2 reviews 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 LARS1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 3 reviews 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 LARS1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1

    2 reviews 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 LARS1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    1 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 LARS1 in Additional findings_Paediatric


    Level 2: Screening
    Version 1.0

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

    Green LARS1 in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 2.0

    Component of the following Super Panels:

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

    Green LARS1 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 2.0

    Component of the following Super Panels:

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

    Green LARS1 in Prepair 1000+


    Level 2: Screening
    Version 3.0

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

    Red LARS1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

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

    Green LARS1 in Prepair 500+


    Level 2: Screening
    Version 3.0

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