PUS1

pseudouridylate synthase 1
OMIM: 608109, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green PUS1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462

    Green PUS1 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462

    Green PUS1 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462

    Green PUS1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462

    Green PUS1 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Victorian Clinical Genetics Services
    Phenotypes
    • myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553

    Green PUS1 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
    • Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)

    Green PUS1 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462

    Green PUS1 in IBMDx study


    Version 0.35

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • IBMDx Study
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462

    Green PUS1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)

    Green PUS1 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)