Genomics England
GMS Panels
Panels
Genes and Entities

OBSCN

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
OMIM: 608616
PanelMode of inheritanceDetails
2 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhabdomyolysis, myopathy
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 5.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Rhabdomyolysis, susceptibility to, 1}, OMIM:620235