SARS2

seryl-tRNA synthetase 2, mitochondrial
OMIM: 612804, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SARS2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845

Green SARS2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green SARS2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845

    Red SARS2 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.76

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Progressive spastic paraplegia

    Green SARS2 in Pulmonary Arterial Hypertension


    Level 2: Cardiovascular disorders
    Version 1.39

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845

    Green SARS2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)

    Green SARS2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)

    Green SARS2 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_Magnesium v38.1.0
    • Expert Review Green
    • KidGen_MetabolicRenal v38.1.0
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • neurodevelopmental disorder MONDO#070009, SARS1-related