Open access
2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing
E. Pion
M. Cossée
Valérie Biancalana
C. A. Bourdain
C. Bouchet-Séraphin
Julien Fauré
R. Froissart
F. Leturcq
R. Menassa
C. Métay
Laurence Michel-Calemard
J. Nectoux
F. Petit
J. Rendu
P. Richard
D. Sternberg
Sandrine Vuillaumier-Barrot
Charles Van Goethem
Corinne Thèze
S. Attarian
M. Krahn
Svetlana Gorokhova
Medicine
Abstract
Diagnosing rare muscle diseases can be challenging due to their genetic heterogeneity. The French National Network for Rare Neuromuscular Diseases (FILNEMUS) has previously established a pioneering nationwide strategy based on gene lists organized in 13 phenotype-specific gene panels. We now revise these lists and add recently described genes. Using data collected from all FILNEMUS diagnostic laboratories, we also establish a “Major Muscle Genes” panel that includes genes responsible for the most frequent genetic muscle diseases. The updated diagnostic strategy of the FILNEMUS network will help reduce the turn-around time for genetic results and facilitate rapid access to the French national genome sequencing platforms.