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Hehr Laboratory (Center for Human Genetics Regensburg)

General information

Hehr Laboratory
Center for Human Genetics Regensburg
Luitpoldstr. 4
Regensburg
Bayern
Germany - 93047
http://www.humangenetik-regensburg.de/
Organization ID: 226585

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 22

    Gene

    GeneSubmissionsLast Updated
    BRWD31Jan 30, 2017
    CCM21Jan 30, 2017
    CREBBP1Oct 24, 2016
    EDAR3Jan 30, 2017
    FKRP1Oct 24, 2016
    FLNA1Jan 30, 2017
    FMO32Jan 30, 2017
    GPC31Jan 30, 2017
    HESX11Oct 24, 2016
    KRIT11Jan 30, 2017
    L1CAM1Jan 30, 2017
    LARGE11Jan 30, 2017
    LOC1268059162Jan 30, 2017
    MCPH11Oct 24, 2016
    PDCD101Jan 30, 2017
    PTCH11Jan 30, 2017
    RANBP23Jan 30, 2017
    REEP11Jan 30, 2017
    TUBA81Jan 30, 2017
    TUBB31Oct 24, 2016
    ZIC21Jan 30, 2017

    Condition

    NameSubmissionsLast Updated
    Cerebral cavernous malformation1Jan 30, 2017
    Cerebral cavernous malformation 21Jan 30, 2017
    Cerebral cavernous malformation 31Jan 30, 2017
    Complex cortical dysplasia with other brain malformations 11Oct 24, 2016
    Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1Oct 24, 2016
    Gorlin syndrome1Jan 30, 2017
    Hereditary spastic paraplegia 311Jan 30, 2017
    Heterotopia, periventricular, X-linked dominant1Jan 30, 2017
    Holoprosencephaly 51Jan 30, 2017
    Intellectual disability, X-linked 931Jan 30, 2017
    Microcephaly 1, primary, autosomal recessive1Oct 24, 2016
    Mitochondrial DNA depletion syndrome 4b2Jan 30, 2017
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51Oct 24, 2016
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A61Jan 30, 2017
    Polymicrogyria with optic nerve hypoplasia1Jan 30, 2017
    Progressive sclerosing poliodystrophy2Jan 30, 2017
    Rubinstein-Taybi syndrome due to CREBBP mutations1Oct 24, 2016
    Septo-optic dysplasia sequence1Oct 24, 2016
    Simpson-Golabi-Behmel syndrome type 11Jan 30, 2017
    Trimethylaminuria2Jan 30, 2017
    X-linked hydrocephalus syndrome1Jan 30, 2017

    Testing in GTR

    Disease nameNumber of tests
    3 beta-Hydroxysteroid dehydrogenase deficiency1 test
    Benign recurrent intrahepatic cholestasis type 11 test
    Benign recurrent intrahepatic cholestasis type 21 test
    Ellis-van Creveld syndrome2 tests
    Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
    Progressive familial intrahepatic cholestasis type 11 test
    Progressive familial intrahepatic cholestasis type 21 test