GIPC1_GGC

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red GIPC1_GGC STR in Distal myopathies


Level 2: Neurology
Version 6.16
Latest signed off version: v6.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • Oculopharyngodistal myopathy 2, OMIM:618940
    Tags
    • STR
    • NGS Not Validated