ISCA-46290-Gain

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ISCA-46290-Gain Region in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.414

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801
    • intellectual disability
    • seizures

    Green ISCA-46290-Gain Region in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.780

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801
    • intellectual disability
    • seizures

    Green ISCA-46290-Gain Region in Common deletion and duplication syndromes


    Version 0.158

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801
    • intellectual disability
    • seizures