Medical Genetics Laboratory, Kennedy Center (Juliane Marie Center, Rigshospitalet)

General information

Medical Genetics Laboratory, Kennedy Center
Juliane Marie Center, Rigshospitalet
Glostrup
Hovedstaden
Denmark - DK-2600
http://www.kennedy.dk/
Organization ID: 1147

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 503

    Gene

    GeneSubmissionsLast Updated
    ABCA479Dec 5, 2018
    ADGRA31Dec 5, 2018
    ADGRV12Dec 5, 2018
    AIPL15Dec 5, 2018
    ALMS11Dec 5, 2018
    BBS18Dec 5, 2018
    BBS102Dec 5, 2018
    BBS122Dec 5, 2018
    BBS24Dec 5, 2018
    BBS41Dec 5, 2018
    BBS51Dec 5, 2018
    BBS71Dec 5, 2018
    BBS92Dec 5, 2018
    BEST119Dec 5, 2018
    BLOC1S1-RDH51Dec 5, 2018
    C10orf1051Dec 5, 2018
    CA41Dec 5, 2018
    CABP45Dec 5, 2018
    CACNA1F7Dec 5, 2018
    CACNA2D41Dec 5, 2018
    CDH237Dec 5, 2018
    CDH23-AS11Dec 5, 2018
    CDH31Dec 5, 2018
    CDHR13Dec 5, 2018
    CEP2909Dec 5, 2018
    CERKL4Dec 5, 2018
    CHM2Dec 5, 2018
    CLRN11Dec 5, 2018
    CNGA13Dec 5, 2018
    CNGB111Dec 5, 2018
    CNGB37Dec 5, 2018
    CNNM41Dec 5, 2018
    CRB117Dec 5, 2018
    CRX7Dec 5, 2018
    EYS28Dec 5, 2018
    FAM161A4Dec 5, 2018
    FLVCR11Dec 5, 2018
    GNAT11Dec 5, 2018
    GPHN5Dec 5, 2018
    GPR1792Dec 5, 2018
    GRK11Dec 5, 2018
    GRM64Dec 5, 2018
    GUCA1A2Dec 5, 2018
    GUCY2D5Dec 5, 2018
    IDH3B1Dec 5, 2018
    IMPDH14Dec 5, 2018
    IMPG23Dec 5, 2018
    IQCB12Dec 5, 2018
    KCNV22Dec 5, 2018
    LOC1001307982Dec 5, 2018
    LOC1019271573Dec 5, 2018
    LOC1181427572Dec 5, 2018
    LRAT1Dec 5, 2018
    MAK2Dec 5, 2018
    MERTK8Dec 5, 2018
    MKKS3Dec 5, 2018
    MKS12Dec 5, 2018
    MYO7A7Dec 5, 2018
    NR2E37Dec 5, 2018
    PCARE3Dec 5, 2018
    PCDH152Dec 5, 2018
    PDE6A9Dec 5, 2018
    PDE6B11Dec 5, 2018
    PHF34Dec 5, 2018
    PITPNM32Dec 5, 2018
    PROM16Dec 5, 2018
    PRPF3115Dec 5, 2018
    PRPF81Dec 5, 2018
    PRPH218Dec 5, 2018
    RAB281Dec 5, 2018
    RDH125Dec 5, 2018
    RDH51Dec 5, 2018
    RGS91Dec 5, 2018
    RHO13Dec 5, 2018
    RLBP11Dec 5, 2018
    ROM11Dec 5, 2018
    RP115Dec 5, 2018
    RP26Dec 5, 2018
    RPE654Dec 5, 2018
    RPGR13Dec 5, 2018
    RPGRIP11Dec 5, 2018
    SAG1Dec 5, 2018
    SNRNP2002Dec 5, 2018
    TOPORS2Dec 5, 2018
    TRPM12Dec 5, 2018
    TTC83Dec 5, 2018
    TULP13Dec 5, 2018
    USH1C1Dec 5, 2018
    USH2A55Dec 5, 2018
    USH2A-AS13Dec 5, 2018
    USH2A-AS27Dec 5, 2018
    WHRN1Dec 5, 2018
    ZDHHC248Dec 5, 2018
    ZFYVE261Dec 5, 2018

    Testing in GTR

    Disease nameNumber of tests
    Albinism, oculocutaneous, type V1 test
    Albinism, oculocutaneous, type VI1 test
    Albinism, oculocutaneous, type VII1 test
    Aniridia 12 tests
    Anophthalmia-microphthalmia syndrome1 test
    Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
    Anterior segment anomalies with or without cataract1 test
    Anterior segment dysgenesis 12 tests
    Autosomal dominant optic atrophy classic form1 test
    Autosomal recessive DOPA responsive dystonia1 test
    Axenfeld-Rieger syndrome type 13 tests
    Axenfeld-Rieger syndrome type 33 tests
    Axenfeld-rieger anomaly1 test
    BH4-deficient hyperphenylalaninemia A1 test
    Beckwith-Wiedemann syndrome1 test
    Brain small vessel disease with axenfeld-rieger anomaly1 test
    Brain small vessel disease with hemorrhage1 test
    Branchiooculofacial syndrome1 test
    Cataract 23, multiple types1 test
    Cornea plana 21 test
    Cornelia de Lange syndrome 11 test
    Cornelia de Lange syndrome 31 test
    Cornelia de Lange syndrome 41 test
    Cornelia de Lange syndrome 51 test
    Dihydropteridine reductase deficiency1 test
    Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
    Dystonia 11 test
    Epileptic encephalopathy, early infantile, 11 test
    Focal dermal hypoplasia2 tests
    Focal segmental glomerulosclerosis 71 test
    Frontonasal dysplasia 31 test
    GTP cyclohydrolase I deficiency1 test
    Glaucoma 1, open angle, A1 test
    Glaucoma 3, primary congenital, A1 test
    Irido-corneo-trabecular dysgenesis2 tests
    Leber congenital amaurosis 21 test
    Linear skin defects with multiple congenital anomalies 11 test
    Lissencephaly 2, X-linked1 test
    Menkes kinky-hair syndrome1 test
    Mental retardation, with or without seizures, ARX-related, X-linked1 test
    Nance-Horan syndrome1 test
    Oculocutaneous albinism1 test
    Oculocutaneous albinism type 12 tests
    Oculocutaneous albinism type 1B1 test
    Oculocutaneous albinism type 32 tests
    Oculocutaneous albinism type 42 tests
    Oculotrichoanal syndrome1 test
    Optic atrophy1 test
    Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
    Pallister-Hall syndrome1 test
    Partington syndrome1 test
    Peters plus syndrome2 tests
    Phenylketonuria1 test
    Pierson syndrome1 test
    Primary Open Angle Glaucoma (Adult Onset)1 test
    Russell-Silver syndrome2 tests
    Silver-Russell syndrome due to an imprinting defect of 11p151 test
    Syndromic microphthalmia1 test
    Syndromic microphthalmia type 51 test
    Torsion dystonia 61 test
    Tuberous sclerosis 11 test
    Tuberous sclerosis 21 test
    Tyrosinase-negative oculocutaneous albinism1 test
    Tyrosinase-positive oculocutaneous albinism2 tests
    West syndrome1 test
    Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome1 test
    Wilson disease1 test
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