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UOSD Laboratory of Genetics & Genomics of Rare Diseases (Istituto Giannina Gaslini)

General information

UOSD Laboratory of Genetics & Genomics of Rare Diseases
Istituto Giannina Gaslini
Genova
Italy - 161432

Organization ID: 507502

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 85

    Gene

    GeneSubmissionsLast Updated
    ABCC61Mar 17, 2020
    ADA24May 22, 2020
    AIRE2May 22, 2020
    AP3B11May 22, 2020
    C21May 22, 2020
    C91May 22, 2020
    CARD111May 22, 2020
    CASP84May 22, 2020
    CD192May 22, 2020
    CFB1May 22, 2020
    CFP1May 22, 2020
    CHD71May 22, 2020
    COL4A12Mar 17, 2020
    CTC11May 22, 2020
    CTLA42May 22, 2020
    CXCR41May 22, 2020
    DNASE11May 22, 2020
    ELANE1May 22, 2020
    FAN11May 22, 2020
    FANCA1May 22, 2020
    FANCG1May 22, 2020
    G6PC11May 22, 2020
    GATA21May 22, 2020
    GFAP1Aug 17, 2021
    IL21R1May 22, 2020
    ITK1May 22, 2020
    LIG41May 22, 2020
    LOC1060293121May 22, 2020
    LRBA6May 22, 2020
    LYST1May 22, 2020
    MPL1May 22, 2020
    MVK1May 22, 2020
    NCF11May 22, 2020
    NCF21May 22, 2020
    NFKBID2May 22, 2020
    NHP21May 22, 2020
    NOD21May 22, 2020
    PCNT1Mar 17, 2020
    PIK3CD1May 22, 2020
    PIK3CG1May 22, 2020
    PRKCD1May 22, 2020
    RAC21May 22, 2020
    RAG14May 22, 2020
    RAG21May 22, 2020
    RNF311May 22, 2020
    RPS241May 22, 2020
    RTEL12May 22, 2020
    RTEL1-TNFRSF6B2May 22, 2020
    SH3BP21May 22, 2020
    STAT31May 22, 2020
    STAT5B1May 22, 2020
    STXBP21May 22, 2020
    TCF31May 22, 2020
    TERT4May 22, 2020
    TNFAIP31May 22, 2020
    TNFRSF13B1May 22, 2020
    UNC13D1May 22, 2020
    USB12May 22, 2020
    VPS451May 22, 2020
    WDR11May 22, 2020
    WIPF11May 22, 2020
    WRAP532May 22, 2020

    Condition

    NameSubmissionsLast Updated
    Agammaglobulinemia 8, autosomal dominant1May 22, 2020
    Alexander disease1Aug 17, 2021
    Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency2May 22, 2020
    Autoimmune lymphoproliferative syndrome type 2B4May 22, 2020
    Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1May 22, 2020
    Autoinflammatory syndrome, familial, Behcet-like1May 22, 2020
    BENTA disease1May 22, 2020
    Blau syndrome1May 22, 2020
    Brain small vessel disease 1 with or without ocular anomalies2Mar 17, 2020
    CHARGE association1May 22, 2020
    Cerebroretinal microangiopathy with calcifications and cysts 11May 22, 2020
    Ch├ędiak-Higashi syndrome1May 22, 2020
    Combined immunodeficiency due to LRBA deficiency6May 22, 2020
    Complement component 2 deficiency1May 22, 2020
    Complement component 9 deficiency1May 22, 2020
    Complement factor b deficiency1May 22, 2020
    Congenital neutropenia-myelofibrosis-nephromegaly syndrome1May 22, 2020
    Cryptosporidiosis-chronic cholangitis-liver disease syndrome1May 22, 2020
    DNA ligase IV deficiency1May 22, 2020
    Deficiency of ADA22Mar 17, 2020
    Diamond-Blackfan anemia 31May 22, 2020
    Dyskeratosis congenita, autosomal dominant 24May 22, 2020
    Dyskeratosis congenita, autosomal recessive 21May 22, 2020
    Dyskeratosis congenita, autosomal recessive 32May 22, 2020
    Dyskeratosis congenita, autosomal recessive 52May 22, 2020
    Familial hemophagocytic lymphohistiocytosis 31May 22, 2020
    Familial hemophagocytic lymphohistiocytosis 51May 22, 2020
    Fanconi anemia complementation group A1May 22, 2020
    Fanconi anemia complementation group G1May 22, 2020
    Fibrous dysplasia of jaw1May 22, 2020
    Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1May 22, 2020
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11May 22, 2020
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 21May 22, 2020
    Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1May 22, 2020
    Hermansky-Pudlak syndrome 21May 22, 2020
    Hyperimmunoglobulin D with periodic fever1May 22, 2020
    Immunodeficiency 141May 22, 2020
    Immunodeficiency, common variable, 122May 22, 2020
    Immunodeficiency, common variable, 21May 22, 2020
    Immunodeficiency, common variable, 32May 22, 2020
    Karyomegalic interstitial nephritis1May 22, 2020
    Lymphoproliferative syndrome 11May 22, 2020
    Microcephalic osteodysplastic primordial dwarfism type II1Mar 17, 2020
    Monocytopenia with susceptibility to infections1May 22, 2020
    Neutropenia, severe congenital, 1, autosomal dominant1May 22, 2020
    Neutrophil immunodeficiency syndrome1May 22, 2020
    Poikiloderma with neutropenia2May 22, 2020
    Polyglandular autoimmune syndrome, type 12May 22, 2020
    Polyglucosan body myopathy type 11May 22, 2020
    Properdin deficiency, X-linked1May 22, 2020
    Pseudoxanthoma elasticum1Mar 17, 2020
    STAT3-related early-onset multisystem autoimmune disease1May 22, 2020
    Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive5May 22, 2020
    Systemic lupus erythematosus1May 22, 2020
    Thrombocythemia 21May 22, 2020
    Vasculitis due to ADA2 deficiency2May 22, 2020
    WDR1 deficiency1May 22, 2020
    Warts, hypogammaglobulinemia, infections, and myelokathexis1May 22, 2020
    Wiskott-Aldrich syndrome 21May 22, 2020
    not provided1May 22, 2020
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