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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (1 May 2024)

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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

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