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Inherited Neuropathy Consortium Ii (University Of Miami), Lab-SZU

General information

Inherited Neuropathy Consortium Ii, Lab-SZU
University Of Miami
Miami
Florida
United States

Organization ID: 508951

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 795

    Gene

    GeneSubmissionsLast Updated
    AARS16Jun 2, 2023
    AIFM14Jun 2, 2023
    ARHGEF101Jun 2, 2023
    ATL127Jun 2, 2023
    ATL31Jun 2, 2023
    ATP1A18Jun 2, 2023
    ATP1A1-AS17Jun 2, 2023
    ATP7A223Jun 2, 2023
    BICD28Jun 2, 2023
    BSCL234Jun 2, 2023
    DCTN127Dec 6, 2023
    DHTKD14Dec 6, 2023
    DNAJB23Dec 6, 2023
    DNM232Dec 6, 2023
    DNMT115Dec 6, 2023
    DST4Dec 6, 2023
    DYNC1H131Dec 6, 2023
    EGR218Dec 6, 2023
    FBLN519Dec 6, 2023
    FBXO382Dec 6, 2023
    FGD417Dec 6, 2023
    FIG443Dec 6, 2023
    GAN66Dec 6, 2023
    GARS124Dec 6, 2023
    GDAP172Dec 6, 2023
    GJB195Dec 6, 2023
    HNRNPUL2-BSCL234Jun 2, 2023
    LOC1268620601Dec 6, 2023
    LOC1299937341Dec 6, 2023
    LOC1300006226Dec 6, 2023
    LOC1300565021Dec 6, 2023
    LOC13005949810Dec 6, 2023
    MFN21Feb 24, 2023
    PDK31Feb 24, 2023
    RAB33A4Jun 2, 2023
    RETREG15Dec 6, 2023
    RETREG1-AS11Dec 6, 2023
    SETX3Jun 2, 2023
    SH3TC21Feb 24, 2023

    Condition

    NameSubmissionsLast Updated
    Age-related macular degeneration10Dec 6, 2023
    Amyotrophic lateral sclerosis10Dec 6, 2023
    Amyotrophic lateral sclerosis type 111Feb 24, 2023
    Amyotrophic lateral sclerosis type 43Jun 2, 2023
    Autosomal dominant Charcot-Marie-Tooth disease type 2K4Dec 6, 2023
    Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures4Jun 2, 2023
    Autosomal dominant hereditary axonal motor and sensory neuropathy1Jun 2, 2023
    Autosomal dominant slowed nerve conduction velocity1Jun 2, 2023
    Autosomal recessive distal spinal muscular atrophy 23Dec 6, 2023
    Berardinelli-Seip congenital lipodystrophy34Jun 2, 2023
    Bilateral parasagittal parieto-occipital polymicrogyria1Dec 6, 2023
    Charcot-Marie-Tooth disease X-linked dominant 195Dec 6, 2023
    Charcot-Marie-Tooth disease X-linked dominant 61Feb 24, 2023
    Charcot-Marie-Tooth disease X-linked recessive 44Jun 2, 2023
    Charcot-Marie-Tooth disease axonal type 2K47Dec 6, 2023
    Charcot-Marie-Tooth disease axonal type 2N7Jun 2, 2023
    Charcot-Marie-Tooth disease axonal type 2O31Dec 6, 2023
    Charcot-Marie-Tooth disease dominant intermediate B32Dec 6, 2023
    Charcot-Marie-Tooth disease recessive intermediate A1Dec 6, 2023
    Charcot-Marie-Tooth disease type 1D15Dec 6, 2023
    Charcot-Marie-Tooth disease type 2A212Dec 6, 2023
    Charcot-Marie-Tooth disease type 2D18Dec 6, 2023
    Charcot-Marie-Tooth disease type 4A20Dec 6, 2023
    Charcot-Marie-Tooth disease type 4C1Feb 24, 2023
    Charcot-Marie-Tooth disease type 4H17Dec 6, 2023
    Charcot-Marie-Tooth disease type 4J25Dec 6, 2023
    Charcot-marie-tooth disease, axonal, type 2DD1Feb 24, 2023
    Cutis laxa, X-linked12Jun 2, 2023
    Cutis laxa, autosomal dominant7Dec 6, 2023
    Dejerine-Sottas disease2Dec 6, 2023
    Distal hereditary motor neuropathy type 21Dec 6, 2023
    ERG2-related disorder1Feb 24, 2023
    Giant axonal neuropathy 166Dec 6, 2023
    Hereditary sensorimotor neuropathy with hyperelastic skin2Dec 6, 2023
    Hereditary sensory and autonomic neuropathy type 25Dec 6, 2023
    Hereditary sensory and autonomic neuropathy type 64Dec 6, 2023
    Hereditary sensory neuropathy-deafness-dementia syndrome15Dec 6, 2023
    Hereditary spastic paraplegia 3A29Jun 2, 2023
    Menkes kinky-hair syndrome211Jun 2, 2023
    Neuronopathy, distal hereditary motor, type 2D1Feb 24, 2023
    Neuronopathy, distal hereditary motor, type 56Dec 6, 2023
    Neuronopathy, distal hereditary motor, type 5B1Jun 2, 2023
    Perry syndrome27Dec 6, 2023
    Yunis-Varon syndrome6Dec 6, 2023