Autoinflammatory diseases unit (CHU de Montpellier)

General information

Autoinflammatory diseases unit
CHU de Montpellier
371 Avenue du Doyen Gaston Giraud
Montpellier
Languedoc-Roussillon
France - 34090
https://umai-montpellier.fr/
Organization ID: 507272

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 202

    Gene

    GeneSubmissionsLast Updated
    ANKRD1121Jul 22, 2020
    ARID1B4Jul 22, 2020
    CHD77Jul 22, 2020
    CREBBP3Jul 22, 2020
    DUSP291Jul 22, 2020
    DVL11Jul 22, 2020
    EFTUD21Jul 22, 2020
    EHMT11Jul 22, 2020
    EP3001Jul 22, 2020
    IRF63Jul 22, 2020
    KANSL11Jul 22, 2020
    KAT6B1Jul 22, 2020
    KDM5C1Jul 22, 2020
    KDM6A13Jul 22, 2020
    KMT2A3Jul 22, 2020
    KMT2D115Jul 22, 2020
    LOC1153081611Jul 22, 2020
    MASP11Jul 22, 2020
    MED13L2Jul 22, 2020
    MID11Jul 22, 2020
    NIPBL1Jul 22, 2020
    PHF61Jul 22, 2020
    SATB21Jul 22, 2020
    SETD55Jul 22, 2020
    SMARCA23Jul 22, 2020
    SMARCA41Jul 22, 2020
    SNRPB2Jul 22, 2020
    TBX11Jul 22, 2020
    TCOF13Jul 22, 2020
    TFAP2A4Jul 22, 2020
    TFAP2A-AS22Jul 22, 2020
    TTC36-AS11Jul 22, 2020

    Condition

    NameSubmissionsLast Updated
    3MC syndrome 11Jul 22, 2020
    Branchiooculofacial syndrome3Jul 22, 2020
    CHARGE association4Jul 22, 2020
    Cerebro-costo-mandibular syndrome1Jul 22, 2020
    Chromatinopathy8Jul 22, 2020
    Cleft lip1Jul 22, 2020
    Cleft palate3Jul 22, 2020
    Coffin-Siris syndrome 12Jul 22, 2020
    Cornelia de Lange syndrome 11Jul 22, 2020
    Cornelia de Lange-like syndrome1Jul 22, 2020
    Craniofacial-ulnar-renal syndrome1Jul 22, 2020
    Hirsutism5Jul 22, 2020
    Intellectual disability7Jul 22, 2020
    KBG syndrome23Jul 22, 2020
    Kabuki syndrome 1115Jul 22, 2020
    Kabuki syndrome 213Jul 22, 2020
    Kabuki-like syndrome2Jul 22, 2020
    Kleefstra syndrome 11Jul 22, 2020
    Nicolaides-Baraitser syndrome2Jul 22, 2020
    Opitz GBBB syndrome, type I1Jul 22, 2020
    Robin sequence1Jul 22, 2020
    Robinow syndrome, autosomal dominant 21Jul 22, 2020
    Rubinstein-Taybi syndrome 13Jul 22, 2020
    Treacher Collins syndrome 13Jul 22, 2020
    Wiedemann-Steiner syndrome4Jul 22, 2020
    van der Woude syndrome 13Jul 22, 2020
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