SARS

seryl-tRNA synthetase
OMIM: 607529, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green SARS in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709
Tags
  • new-gene-name
Green SARS in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709
    • Autosomal dominant SARS1-related neurodevelopmental disorder
    Tags
    • new-gene-name
    • de novo
    Red SARS in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709
    Tags
    • new-gene-name
    Green SARS in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709
    Tags
    • watchlist_moi
    • new-gene-name
    Green SARS in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709
    Tags
    • new-gene-name
    Green SARS in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • hereditary peripheral neuropathy, MONDO:0020127
    Tags
    • new-gene-name