GLS_GCA

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red GLS_GCA STR in Ataxia and cerebellar anomalies - narrow panel


Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
    Tags
    • STR
    • NGS Not Validated
    Red GLS_GCA STR in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
    Tags
    • STR
    • NGS Not Validated
    Red GLS_GCA STR in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
    Tags
    • STR
    • NGS Not Validated