GLS_GDPAG_GCA

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GLS_GDPAG_GCA STR in Mendeliome


Version 1.4851

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Tags
  • paediatric-onset

Green GLS_GDPAG_GCA STR in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.414

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412

    Green GLS_GDPAG_GCA STR in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.780

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412

    Green GLS_GDPAG_GCA STR in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.60

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412

    Green GLS_GDPAG_GCA STR in Repeat Disorders


    Version 0.272

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
    Tags
    • paediatric-onset

    Green GLS_GDPAG_GCA STR in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.143

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412