RARS

arginyl-tRNA synthetase
OMIM: 107820, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RARS in White matter disorders and cerebral calcification - narrow panel


Version 1.208
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Leukodystrophy, hypomyelinating, 9 616140
    Tags
    • new-gene-name

    Green RARS in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.141

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 9 616140
    Tags
    • new-gene-name

    Amber RARS in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 9 616140
    Tags
    • new-gene-name
    • for-review

    Amber RARS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1371
    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 Amber
    • Literature
    Phenotypes
    • Cerebral hypomyelination
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Cerebral atrophy
    • Nystagmus
    • Ataxia
    • Feeding difficulties
    Tags
    • new-gene-name
    • for-review

    Green RARS in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 9, 616140
    Tags
    • new-gene-name