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GenomeConnect-Association for Creatine Deficiencies (Association for Creatine Deficiencies), ACD

General information

GenomeConnect-Association for Creatine Deficiencies, ACD
Association for Creatine Deficiencies
Lewisburg
United States
http://creatineinfo.iamrare.org
Organization ID: 507206

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 62

    Gene

    GeneSubmissionsLast Updated
    AFF41Feb 18, 2025
    AHNAK21Feb 18, 2025
    ARSG1Feb 18, 2025
    ARX1Nov 8, 2024
    ATN11Feb 18, 2025
    ATXN21Feb 18, 2025
    BRPF11Feb 18, 2025
    C3orf202Oct 24, 2019
    CBS1Oct 24, 2019
    CCDC88A1Oct 24, 2019
    CDC271Feb 18, 2025
    CFC13Feb 18, 2025
    CLCN51Feb 18, 2025
    DKC11Oct 24, 2019
    FANCI1Oct 24, 2019
    GABBR21Feb 18, 2025
    GAMT7Dec 30, 2022
    GNL22Oct 24, 2019
    KAT6A1Oct 24, 2019
    KMT2B1Feb 18, 2025
    KMT2C1Feb 18, 2025
    KRBA12Oct 24, 2019
    LOC1086639961Feb 18, 2025
    LOC1094614841Feb 18, 2025
    LOC1096106311Nov 8, 2024
    LOC1268057051Oct 24, 2019
    LOC1268632581Feb 18, 2025
    LOC1300629452Oct 24, 2019
    LOC1300688861Oct 24, 2019
    MT-TI1Oct 24, 2019
    MUC191Feb 18, 2025
    MUC41Feb 18, 2025
    NRXN11Dec 29, 2021
    OR11H121Feb 18, 2025
    PEX71Oct 24, 2019
    POLG1Oct 24, 2019
    POLGARF1Oct 24, 2019
    PRKAR1A1Feb 18, 2025
    PRSS11Feb 18, 2025
    SAGE11Feb 18, 2025
    SLC6A61Feb 18, 2025
    SLC6A811Feb 18, 2025
    TAF51Oct 24, 2019
    TBP1Feb 18, 2025
    TRB1Feb 18, 2025
    TSHR1Feb 18, 2025
    TSHR-AS11Feb 18, 2025
    WIPI11Feb 18, 2025
    ZNF7462Oct 24, 2019

    Condition

    NameSubmissionsLast Updated
    Acrodysostosis 1 with or without hormone resistance1Feb 18, 2025
    Association with valproate-induced liver toxicity1Oct 24, 2019
    Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Oct 24, 2019
    Chromosome 2p16.3 deletion syndrome1Dec 29, 2021
    Classic homocystinuria1Oct 24, 2019
    Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Feb 18, 2025
    Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1Feb 18, 2025
    Corpus callosum agenesis-abnormal genitalia syndrome1Nov 8, 2024
    Creatine transporter deficiency10Feb 18, 2025
    Deficiency of guanidinoacetate methyltransferase6Dec 30, 2022
    Dent disease type 11Feb 18, 2025
    Developmental and epileptic encephalopathy, 11Nov 8, 2024
    Dyskeratosis congenita, X-linked1Oct 24, 2019
    Dystonia 28, childhood-onset1Feb 18, 2025
    Guanidinoacetate methyltransferase (GAMT) deficiency1Oct 24, 2019
    Hereditary pancreatitis1Feb 18, 2025
    Heterotaxy, visceral, 2, autosomal3Feb 18, 2025
    Hypothyroidism due to TSH receptor mutations1Feb 18, 2025
    Intellectual developmental disorder with dysmorphic facies and ptosis1Feb 18, 2025
    Intellectual disability, X-linked, with or without seizures, ARX-related1Nov 8, 2024
    Kleefstra syndrome 21Feb 18, 2025
    Neurodevelopmental disorder with poor language and loss of hand skills1Feb 18, 2025
    PEHO syndrome1Oct 24, 2019
    Parkinson disease, late-onset2Feb 18, 2025
    Partington syndrome1Nov 8, 2024
    Pitt-Hopkins-like syndrome 21Dec 29, 2021
    Rhizomelic chondrodysplasia punctata type 11Oct 24, 2019
    not provided22Feb 18, 2025