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Service de Génétique Moléculaire (Hôpital Robert Debré)

General information

Service de Génétique Moléculaire
Hôpital Robert Debré
48 boulevard Sérurier
Paris
France - 75019

Organization ID: 505368

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 530

    Gene

    GeneSubmissionsLast Updated
    A2ML11Aug 4, 2020
    ADGRG12Nov 19, 2020
    ALG131Mar 26, 2020
    ANKH1Nov 19, 2020
    ANKRD118Nov 19, 2020
    ARCN12Apr 26, 2020
    ARHGEF91Nov 19, 2020
    ARID1A1Nov 19, 2020
    ARID1B2Nov 19, 2020
    ASH1L1Mar 26, 2020
    ASNS3Apr 26, 2020
    ASPM18Apr 26, 2020
    ATR1Apr 26, 2020
    ATRX1Nov 19, 2020
    AUTS21Nov 19, 2020
    BCL11A1Nov 19, 2020
    BLM2Apr 26, 2020
    BRAF33Mar 26, 2020
    BRWD31Nov 19, 2020
    CAMK2A1Nov 19, 2020
    CAMTA11Nov 19, 2020
    CASK4Apr 26, 2020
    CDH231Nov 19, 2020
    CDK131Nov 19, 2020
    CDK5RAP25Apr 26, 2020
    CENPJ3Apr 26, 2020
    CEP1354Apr 26, 2020
    CEP1523Apr 26, 2020
    CEP632Apr 26, 2020
    CHD81Mar 26, 2020
    CLASP17Apr 26, 2020
    CLCN42Nov 19, 2020
    CLTC2Nov 19, 2020
    CREBBP5Apr 26, 2020
    CSNK2A11Nov 19, 2020
    CUL4B2Nov 19, 2020
    CZ1P-ASNS3Apr 26, 2020
    DCHS12Apr 26, 2020
    DCX1Apr 26, 2020
    DDX3X5Nov 19, 2020
    DEPDC53Apr 26, 2020
    DLG41Nov 19, 2020
    DNMT3A1Mar 26, 2020
    DOCK81Nov 19, 2020
    DONSON1Apr 26, 2020
    DUSP291Nov 19, 2020
    DYNC1H15Apr 26, 2020
    DYRK1A7Apr 26, 2020
    EFTUD24Apr 26, 2020
    EHHADH2Apr 26, 2020
    EP3004Apr 26, 2020
    ERCC21Apr 26, 2020
    ERCC51Apr 26, 2020
    ERCC62Apr 26, 2020
    ERMARD1Apr 26, 2020
    ESR11Mar 26, 2020
    EXOSC32Apr 26, 2020
    FBXO111Nov 19, 2020
    FIG42Apr 26, 2020
    FLNA4Nov 19, 2020
    FOXG15Nov 19, 2020
    FOXP12Mar 26, 2020
    GATAD2B1Nov 19, 2020
    GLI34Apr 26, 2020
    GNAO11Mar 26, 2020
    GPT23Feb 22, 2021
    GRIN2B2Nov 19, 2020
    HRAS8Mar 26, 2020
    HUWE11Mar 26, 2020
    IRAK1BP11Mar 26, 2020
    IRF2BPL1Mar 26, 2020
    KANK12Mar 26, 2020
    KAT6A2Nov 19, 2020
    KAT6B1Nov 19, 2020
    KCNB11Mar 26, 2020
    KCNQ51Nov 19, 2020
    KDM5C2Nov 19, 2020
    KDM6A1Nov 19, 2020
    KIF1111Apr 26, 2020
    KIF5C1Apr 26, 2020
    KIF71Mar 26, 2020
    KMT2A4Nov 19, 2020
    KMT2B2Nov 19, 2020
    KMT2C1Mar 26, 2020
    KMT2D2Nov 19, 2020
    KMT5B1Mar 26, 2020
    KNL12Apr 26, 2020
    KRAS4Mar 26, 2020
    L1CAM1Nov 19, 2020
    LAMA23Jun 8, 2022
    LAMB11Apr 26, 2020
    LIG42Apr 26, 2020
    LRRC568Mar 26, 2020
    MAP2K110Mar 26, 2020
    MAP2K216Mar 26, 2020
    MECP22Nov 19, 2020
    MED13L4Mar 26, 2020
    MTHFR1Mar 26, 2020
    MTOR2Apr 26, 2020
    MYCN2Apr 26, 2020
    MYCNOS2Apr 26, 2020
    NAA151Nov 19, 2020
    NIPBL1Nov 19, 2020
    NR2F11Nov 19, 2020
    NRAS5Mar 26, 2020
    NSD11Nov 19, 2020
    OFD11Mar 26, 2020
    ORC62Apr 26, 2020
    PACS11Nov 19, 2020
    PAFAH1B11Apr 26, 2020
    PCNT4Apr 26, 2020
    PHIP1Mar 26, 2020
    PLK41Apr 26, 2020
    PMM21Apr 26, 2020
    PNKP5Apr 26, 2020
    PPP1CB4Aug 4, 2020
    PQBP13Nov 19, 2020
    PTCHD14Nov 19, 2020
    PTPN1129Mar 26, 2020
    RAF121Mar 26, 2020
    RAI11Mar 26, 2020
    RIT122Mar 26, 2020
    RNF171Apr 26, 2020
    RNU4ATAC7Apr 26, 2020
    RTTN1Apr 26, 2020
    SCN2A4Nov 19, 2020
    SETBP11Nov 19, 2020
    SETD52Mar 26, 2020
    SH3BP22Mar 26, 2020
    SHANK32Nov 19, 2020
    SHOC29Feb 7, 2022
    SIN3A1Mar 26, 2020
    SLC9A62Nov 19, 2020
    SMARCA22Nov 19, 2020
    SNAPC51Oct 2, 2017
    SON1Nov 19, 2020
    SOS131Mar 26, 2020
    SOS215Aug 4, 2020
    SOX51Nov 19, 2020
    SPRED110Mar 26, 2020
    SPRED21Aug 25, 2021
    SRCAP2Nov 19, 2020
    STXBP11Nov 19, 2020
    SYNE13Nov 19, 2020
    TLK21Mar 26, 2020
    TRAPPC92Apr 26, 2020
    TTC36-AS11Nov 19, 2020
    TTN2Mar 26, 2020
    TTN-AS11Mar 26, 2020
    TUBA1A4Apr 26, 2020
    TUBB1Apr 26, 2020
    TUBB2A1Apr 26, 2020
    TUBG11Apr 26, 2020
    TUBGCP64Apr 26, 2020
    UPF3B1Nov 19, 2020
    USP71Nov 19, 2020
    USP9X1Nov 19, 2020
    VPS13B8Apr 26, 2020
    WAC1Mar 26, 2020
    WDFY31Apr 26, 2020
    WDR625Apr 26, 2020
    WDR815Apr 26, 2020
    ZBTB181Nov 19, 2020
    ZEB21Apr 26, 2020

    Condition

    NameSubmissionsLast Updated
    Acquired hemoglobin H disease1Nov 19, 2020
    Alpha thalassemia-X-linked intellectual disability syndrome1Nov 19, 2020
    Arthrogryposis multiplex congenita 3, myogenic type1Nov 19, 2020
    Autism spectrum disorder due to AUTS2 deficiency1Nov 19, 2020
    Autism, susceptibility to, X-linked 31Nov 19, 2020
    Autism, susceptibility to, X-linked 43Nov 19, 2020
    Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2Nov 19, 2020
    Autosomal recessive ataxia, Beauce type1Nov 19, 2020
    Autosomal recessive nonsyndromic hearing loss 121Nov 19, 2020
    Bilateral frontoparietal polymicrogyria2Nov 19, 2020
    Bilateral parasagittal parieto-occipital polymicrogyria2Apr 26, 2020
    Blepharophimosis - intellectual disability syndrome, SBBYS type1Nov 19, 2020
    Bloom syndrome2Apr 26, 2020
    Bosch-Boonstra-Schaaf optic atrophy syndrome1Nov 19, 2020
    Cardio-facio-cutaneous syndrome17Mar 26, 2020
    Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 25Apr 26, 2020
    Cerebrooculofacioskeletal syndrome 21Apr 26, 2020
    Cerebrooculofacioskeletal syndrome 31Apr 26, 2020
    Chondrocalcinosis 21Nov 19, 2020
    Christianson syndrome2Nov 19, 2020
    Cobblestone lissencephaly without muscular or ocular involvement1Apr 26, 2020
    Cockayne syndrome type 22Apr 26, 2020
    Coffin-Siris syndrome 11Nov 19, 2020
    Cohen syndrome8Apr 26, 2020
    Combined immunodeficiency due to DOCK8 deficiency1Nov 19, 2020
    Complex cortical dysplasia with other brain malformations 21Apr 26, 2020
    Complex cortical dysplasia with other brain malformations 41Apr 26, 2020
    Complex cortical dysplasia with other brain malformations 51Apr 26, 2020
    Complex cortical dysplasia with other brain malformations 61Apr 26, 2020
    Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Nov 19, 2020
    Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome3Apr 26, 2020
    Cornelia de Lange syndrome 11Nov 19, 2020
    Costello syndrome5Mar 26, 2020
    Craniometaphyseal dysplasia, autosomal dominant1Nov 19, 2020
    DNA ligase IV deficiency2Apr 26, 2020
    DYRK1A-related intellectual disability syndrome7Apr 26, 2020
    Developmental and epileptic encephalopathy, 114Nov 19, 2020
    Developmental and epileptic encephalopathy, 272Nov 19, 2020
    Developmental and epileptic encephalopathy, 41Nov 19, 2020
    Developmental and epileptic encephalopathy, 81Nov 19, 2020
    Dias-Logan syndrome1Nov 19, 2020
    Dystonia 28, childhood-onset1Nov 19, 2020
    Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Nov 19, 2020
    Epilepsy, familial focal, with variable foci 13Apr 26, 2020
    Episodic ataxia, type 94Nov 19, 2020
    FG syndrome 23Apr 26, 2020
    Fanconi renotubular syndrome 32Apr 26, 2020
    Feingold syndrome type 12Apr 26, 2020
    Fibrous dysplasia of jaw3Mar 26, 2020
    Floating-Harbor syndrome1Nov 19, 2020
    Genitopatellar syndrome1Nov 19, 2020
    Glutamate pyruvate transaminase 2 deficiency2Feb 22, 2021
    Greig cephalopolysyndactyly syndrome4Apr 26, 2020
    Hao-Fountain syndrome1Nov 19, 2020
    Heterotopia, periventricular, X-linked dominant1Nov 19, 2020
    Intellectual developmental disorder 621Nov 19, 2020
    Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Nov 19, 2020
    Intellectual disability, X-linked 1011Nov 19, 2020
    Intellectual disability, X-linked 1022Nov 19, 2020
    Intellectual disability, X-linked 491Nov 19, 2020
    Intellectual disability, X-linked 931Nov 19, 2020
    Intellectual disability, X-linked 991Nov 19, 2020
    Intellectual disability, autosomal dominant 135Apr 26, 2020
    Intellectual disability, autosomal dominant 141Nov 19, 2020
    Intellectual disability, autosomal dominant 221Nov 19, 2020
    Intellectual disability, autosomal dominant 291Nov 19, 2020
    Intellectual disability, autosomal dominant 461Nov 19, 2020
    Intellectual disability, autosomal dominant 501Nov 19, 2020
    Intellectual disability, autosomal dominant 531Nov 19, 2020
    Intellectual disability, autosomal dominant 562Nov 19, 2020
    Intellectual disability, autosomal dominant 62Nov 19, 2020
    Intellectual disability, autosomal recessive 132Apr 26, 2020
    Intellectual disability, autosomal recessive 631Nov 19, 2020
    Intellectual disability-hypotonic facies syndrome, X-linked, 11Nov 19, 2020
    KBG syndrome2Nov 19, 2020
    Kabuki syndrome 11Nov 19, 2020
    Kabuki syndrome 21Nov 19, 2020
    Lamb-Shaffer syndrome1Nov 19, 2020
    Lissencephaly due to LIS1 mutation1Apr 26, 2020
    Lissencephaly due to TUBA1A mutation3Apr 26, 2020
    Lissencephaly type 1 due to doublecortin gene mutation1Apr 26, 2020
    MASA syndrome1Nov 19, 2020
    Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Apr 26, 2020
    Mandibulofacial dysostosis-microcephaly syndrome4Apr 26, 2020
    Meier-Gorlin syndrome 32Apr 26, 2020
    Melnick-Needles syndrome1Nov 19, 2020
    Merosin deficient congenital muscular dystrophy2Jun 8, 2022
    Metachondromatosis1Mar 26, 2020
    Microcephalic osteodysplastic primordial dwarfism type II4Apr 26, 2020
    Microcephalic primordial dwarfism due to RTTN deficiency1Apr 26, 2020
    Microcephaly 18, primary, autosomal dominant1Apr 26, 2020
    Microcephaly 2, primary, autosomal recessive, with or without cortical malformations5Apr 26, 2020
    Microcephaly 3, primary, autosomal recessive5Apr 26, 2020
    Microcephaly 4, primary, autosomal recessive2Apr 26, 2020
    Microcephaly 5, primary, autosomal recessive18Apr 26, 2020
    Microcephaly 6, primary, autosomal recessive3Apr 26, 2020
    Microcephaly 8, primary, autosomal recessive4Apr 26, 2020
    Microcephaly 9, primary, autosomal recessive3Apr 26, 2020
    Microcephaly and chorioretinopathy 14Apr 26, 2020
    Microcephaly and chorioretinopathy 21Apr 26, 2020
    Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability11Apr 26, 2020
    Microcephaly, seizures, and developmental delay5Apr 26, 2020
    Microcephaly, short stature, and limb abnormalities1Apr 26, 2020
    Mowat-Wilson syndrome1Apr 26, 2020
    Neurofibromatosis-Noonan syndrome3Mar 26, 2020
    Nicolaides-Baraitser syndrome2Nov 19, 2020
    Nonprogressive cerebellar atxia with intellectual disability1Nov 19, 2020
    Noonan syndrome190Feb 7, 2022
    Noonan syndrome with multiple lentigines4Mar 26, 2020
    Okur-Chung neurodevelopmental syndrome1Nov 19, 2020
    Osteodysplastic primordial dwarfism, type 17Apr 26, 2020
    Oto-palato-digital syndrome, type I1Nov 19, 2020
    Oto-palato-digital syndrome, type II1Nov 19, 2020
    PMM2-CDG1Apr 26, 2020
    Periventricular nodular heterotopia 61Apr 26, 2020
    Phelan-McDermid syndrome2Nov 19, 2020
    Pituitary adenoma 5, multiple types1Nov 19, 2020
    Polymicrogyria, bilateral perisylvian, autosomal recessive1Nov 19, 2020
    Pontocerebellar hypoplasia type 1B2Apr 26, 2020
    Rare genetic intellectual disability57Mar 26, 2020
    Renpenning syndrome3Nov 19, 2020
    Rett syndrome1Nov 19, 2020
    Rett syndrome, congenital variant5Nov 19, 2020
    Rubinstein-Taybi syndrome due to CREBBP mutations3Apr 26, 2020
    Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3Apr 26, 2020
    Schinzel-Giedion syndrome1Nov 19, 2020
    Schizophrenia 152Nov 19, 2020
    Schuurs-Hoeijmakers syndrome1Nov 19, 2020
    Seckel syndrome 11Apr 26, 2020
    Seckel syndrome 62Apr 26, 2020
    Seizures, benign familial infantile, 34Nov 19, 2020
    Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Nov 19, 2020
    Severe neonatal-onset encephalopathy with microcephaly2Nov 19, 2020
    Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay2Apr 26, 2020
    Sotos syndrome 11Nov 19, 2020
    Syndromic X-linked intellectual disability 141Nov 19, 2020
    Syndromic X-linked intellectual disability Claes-Jensen type1Nov 19, 2020
    Syndromic X-linked intellectual disability Lubs type1Nov 19, 2020
    Syndromic X-linked intellectual disability Najm type4Apr 26, 2020
    Usher syndrome type 1D1Nov 19, 2020
    Van Maldergem syndrome 12Apr 26, 2020
    Wiedemann-Steiner syndrome2Nov 19, 2020
    X-linked complicated corpus callosum dysgenesis1Nov 19, 2020
    X-linked hydrocephalus syndrome1Nov 19, 2020
    X-linked intellectual disability Cabezas type2Nov 19, 2020
    X-linked intellectual disability-psychosis-macroorchidism syndrome1Nov 19, 2020
    ZTTK syndrome1Nov 19, 2020
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