4 Matching Annotations
  1. Oct 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome
    1
    1. ThompsonA 26 Oct 2022
      X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

      PMID: 11326334

      Gene: SLC6A8

      Disease: creatine transporter deficiency

      Inheritance: X-linked

      General Gene:SLC6A8 HGNC:11055
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    ncbi.nlm.nih.gov/pmc/articles/PMC1226136/
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Disorders of creatine transport and metabolism
    2
    1. felicity_jg 26 Oct 2022
      Disorders of creatine transport and metabolism†

      PMID: 21308988

      Gene: SLC6A8

      Disease: Creatine transporter deficiency

      Inheritance: X-linked

      eneral, Gene:SLC6A8, HGNC:11055
    2. felicity_jg 26 Oct 2022

      Title annotation

      PMID: 21308988

      Gene: SLC6A8

      Disease: Creatine transporter deficiency

      Inheritance: X-linked

      Case annotation

      Case#: N/A

      DiseaseAssertion: AGAT Deficiency

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0000729, HP:0001249, HP:0002373, HP:0001252

      CaseHPOFreeText: mental retardation, autistic behavior, febrile seizures, hypotonia

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Developmental Delays, slow somatic growth

      Biochemical analyte testing: Plasma Creatine: low/normal and Urine Creatine: low/normal

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      Creatine uptake assay:

      Variant:

      ClinVarID:

      CAID:

      gnomAD:

      Zygosity:

      MaternalGenotype:

      AdditionalParentalTesting:

      AlsoPublished:

      General, Gene:SLC6A8, HGNC:11055
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    onlinelibrary.wiley.com/doi/10.1002/ajmg.c.30292
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Inborn errors of creatine metabolism and epilepsy
    1
    1. ThompsonA 26 Oct 2022
      Inborn errors of creatine metabolism and epilepsy

      PMID: 23157605

      Gene: SLC6A8

      Disease: Creatine transporter deficiency

      Inheritance: X-linked

      General Gene:SLC6A8 HGNC:11055
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    URL

    onlinelibrary.wiley.com/doi/10.1111/epi.12020