OBSCN

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

3 panels

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0 (22 Mar 2023)

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
    Red OBSCN in Other rare neuromuscular disorders


    Version 19.202
    Latest signed off version: v19.1 (22 Mar 2023)

    review Unknown
    Sources
    • Expert Review Red
    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