OBSCN

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
OMIM: 608616, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green OBSCN in Rhabdomyolysis and metabolic muscle disorders


Level 2: Neurology
Version 5.14
Latest signed off version: v5.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235
    Green OBSCN in Acute rhabdomyolysis


    Level 2: Neurology
    Version 2.7
    Latest signed off version: v2.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235