PanelApp
  1. Genes and Genomic Entities
  2. QARS1

QARS1

glutaminyl-tRNA synthetase 1
OMIM: 603727, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green QARS1 in Mendeliome


Version 2.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760

Green QARS1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760

    Green QARS1 in Mitochondrial disease


    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
    • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760

    Green QARS1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760

    Green QARS1 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
    • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
    Tags
    • new gene name

    Green QARS1 in Fetal anomalies


    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760

    Green QARS1 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760