1. Genes and Genomic Entities
  2. GIPC1

GIPC1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red GIPC1 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, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Oculopharyngodistal myopathy 2, OMIM:618940
    • oculopharyngodistal myopathy 2, MONDO:0030134
    Tags
    • STR
    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