GIPC1

GIPC PDZ domain containing family member 1
OMIM: 605072, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red GIPC1 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Oculopharyngodistal myopathy 2, OMIM:618940
    • oculopharyngodistal myopathy 2, MONDO:0030134
    Tags
    • STR