Genomics England
GMS Panels
Panels
Genes and Entities

OBSCN

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
OMIM: 608616
PanelMode of inheritanceDetails
1 panel
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhabdomyolysis, myopathy