SingHealth Duke-NUS Institute of Precision Medicine (SingHealth), PRISM

General information

SingHealth Duke-NUS Institute of Precision Medicine, PRISM
SingHealth
9 College Drive
Singapore
Singapore - 1696016
https://research.singhealth.com.sg/Pages/PRISM-Overview.aspx
Organization ID: 506534

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 82

    Gene

    GeneSubmissionsLast Updated
    ACAT11Apr 9, 2018
    AGA1Apr 9, 2018
    AMN1Apr 9, 2018
    APTX1Apr 9, 2018
    ARSA2Apr 9, 2018
    ATP7B4Apr 9, 2018
    BCKDHB1Apr 9, 2018
    BTD3Apr 9, 2018
    COQ23Apr 9, 2018
    COQ8A3Apr 9, 2018
    CPS12Apr 9, 2018
    CUBN4Apr 9, 2018
    CYP27A11Apr 9, 2018
    DBT2Apr 9, 2018
    DHCR71Apr 9, 2018
    ETFA1Apr 9, 2018
    ETFB3Apr 9, 2018
    ETFDH2Apr 9, 2018
    FOLR11Apr 9, 2018
    GCDH1Apr 9, 2018
    GLDC1Apr 9, 2018
    GUSB2Apr 9, 2018
    HLCS2Apr 9, 2018
    HMGCS21Apr 9, 2018
    IDUA1Apr 9, 2018
    IVD2Apr 9, 2018
    LOC1129975401Apr 9, 2018
    MAN2B12Apr 9, 2018
    MMACHC2Apr 9, 2018
    MMUT3Apr 9, 2018
    MOCS11Apr 9, 2018
    MOCS21Apr 9, 2018
    MTHFR1Apr 9, 2018
    NAGLU2Apr 9, 2018
    NAGS1Apr 9, 2018
    NPC11Apr 9, 2018
    OTC2Apr 9, 2018
    OXCT11Apr 9, 2018
    PAH2Apr 9, 2018
    PDHA12Apr 9, 2018
    PDHX1Apr 9, 2018
    PTS2Apr 9, 2018
    SLC19A31Apr 9, 2018
    SLC25A134Apr 9, 2018
    SLC2A11Apr 9, 2018
    SPR1Apr 9, 2018
    SYCE21Apr 9, 2018
    TAT1Apr 9, 2018
    TAT-AS11Apr 9, 2018
    TH3Apr 9, 2018

    Condition

    NameSubmissionsLast Updated
    Aspartylglucosaminuria1Apr 9, 2018
    Autosomal recessive DOPA responsive dystonia3Apr 9, 2018
    BH4-deficient hyperphenylalaninemia A2Apr 9, 2018
    Biotin-responsive basal ganglia disease1Apr 9, 2018
    Biotinidase deficiency3Apr 9, 2018
    Cerebral folate transport deficiency1Apr 9, 2018
    Cholestanol storage disease1Apr 9, 2018
    Coenzyme Q10 deficiency, primary 17Apr 9, 2018
    Congenital hyperammonemia, type I2Apr 9, 2018
    Deficiency of acetyl-CoA acetyltransferase1Apr 9, 2018
    Deficiency of alpha-mannosidase1Apr 9, 2018
    Dopa-responsive dystonia due to sepiapterin reductase deficiency1Apr 9, 2018
    GLUT1 deficiency syndrome 11Apr 9, 2018
    Glutaric aciduria, type 11Apr 9, 2018
    Holocarboxylase synthetase deficiency2Apr 9, 2018
    Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Apr 9, 2018
    Hurler syndrome1Apr 9, 2018
    Hyperammonemia, type III1Apr 9, 2018
    Imerslund-Gräsbeck syndrome5Apr 9, 2018
    Isovaleryl-CoA dehydrogenase deficiency2Apr 9, 2018
    Maple syrup urine disease3Apr 9, 2018
    Metachromatic leukodystrophy2Apr 9, 2018
    Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency6Apr 9, 2018
    Molybdenum cofactor deficiency, complementation group A2Apr 9, 2018
    Mucopolysaccharidosis type 72Apr 9, 2018
    Mucopolysaccharidosis, MPS-III-B2Apr 9, 2018
    Multiple acyl-CoA dehydrogenase deficiency6Apr 9, 2018
    Neonatal intrahepatic cholestasis caused by citrin deficiency4Apr 9, 2018
    Niemann-Pick disease type C11Apr 9, 2018
    Non-ketotic hyperglycinemia1Apr 9, 2018
    Ornithine carbamoyltransferase deficiency2Apr 9, 2018
    Phenylketonuria2Apr 9, 2018
    Pyruvate dehydrogenase E1-alpha deficiency3Apr 9, 2018
    Smith-Lemli-Opitz syndrome1Apr 9, 2018
    Succinyl-CoA acetoacetate transferase deficiency1Apr 9, 2018
    Tyrosinemia type II1Apr 9, 2018
    Wilson disease4Apr 9, 2018
    mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Apr 9, 2018
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