ISCA-37432-Gain

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ISCA-37432-Gain Region in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 0.207

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Chromosome 17q12 duplication syndrome 614526
    • intellectual disability
    • seizures
    • congenital anomalies

    Green ISCA-37432-Gain Region in Congenital anomalies of the kidney and urinary tract (CAKUT)


    Level 2: Renal and urinary tract disorders
    Version 0.207

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Chromosome 17q12 duplication syndrome 614526
    • intellectual disability
    • seizures
    • congenital anomalies

    Green ISCA-37432-Gain Region in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.434

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 17q12 duplication syndrome 614526
    • intellectual disability
    • seizures
    • congenital anomalies

    Green ISCA-37432-Gain Region in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.414

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 17q12 duplication syndrome 614526
    • intellectual disability
    • seizures
    • congenital anomalies

    Green ISCA-37432-Gain Region in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.593

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 17q12 duplication syndrome 614526
    • intellectual disability
    • seizures
    • congenital anomalies

    Green ISCA-37432-Gain Region in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.780

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 17q12 duplication syndrome 614526
    • intellectual disability
    • seizures
    • congenital anomalies

    Green ISCA-37432-Gain Region in Common deletion and duplication syndromes


    Version 0.158

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 17q12 duplication syndrome 614526
    • intellectual disability
    • seizures
    • congenital anomalies