1. Genes and Genomic Entities
  2. SARS

SARS

seryl-tRNA synthetase
OMIM: 607529, Gene2Phenotype

6 panels

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

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0 (22 Mar 2023)

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 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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
    Red SARS in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Amber SARS in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • hereditary peripheral neuropathy, MONDO:0020127
    Tags
    • new-gene-name
    • Q4_23_promote_green
    • Q4_23_NHS_review